Publications

atpase-defective mammalian vps4 localizes to aberrant endosomes and impairs cholesterol trafficking.	the yeast vacuolar sorting protein vps4p is an atpase required for endosomal trafficking that couples membrane association to its atpase cycle. to investigate the function of mammalian vps4 in endosomal trafficking, we have transiently expressed wild-type or atpase-defective human vps4 (hvps4) in cultured cells. wild-type hvps4 was cytosolic, whereas a substantial fraction of hvps4 that was unable to either bind or hydrolyze atp was localized to membranes, including those of specifically induced ...	2000	10637304
molecular characterization of mesoderm-restricted basic helix-loop-helix protein, pod-1/capsulin.	members of the basic helix-loop-helix (bhlh) family of transcription factors have been implicated in the regulation of cell proliferation and differentiation. here we describe molecular characterization of mesoderm-specific bhlh protein, pod-1/capsulin. northern blot analysis showed that pod-1/capsulin are preferentially expressed in human vascular smooth muscle cells, and are enriched in mouse heart, kidney, testis, spleen, and lung. ectopic expression of the ha-tagged pod-1/capsulin in 293t ce ...	2000	10601570
mitop, the mitochondrial proteome database: 2000 update.	mitop (http://www.mips.biochem.mpg.de/proj/medgen/mitop/) is a comprehensive database for genetic and functional information on both nuclear- and mitochondrial-encoded proteins and their genes. the five species files--saccharomyces cerevisiae, mus musculus, caenorhabditis elegans, neurospora crassa and homo sapiens--include annotated data derived from a variety of online resources and the literature. a wide spectrum of search facilities is given in the overlapping sections 'gene catalogues', 'pr ...	2000	10592209
the 1999 swiss-2dpage database update.	swiss-2dpage (http://www.expasy.ch/ch2d/ ) is an annotated two-dimensional polyacrylamide gel electro-phoresis (2-de) database established in 1993. the current release contains 24 reference maps from human and mouse biological samples, as well as from saccharomyces cerevisiae, escherichia coli and dictyostelium discoideum origin. these reference maps have now 2824 identified spots, corresponding to 614 separate protein entries in the database, in addition to virtual entries for each swiss-prot s ...	2000	10592248
involvement of the tom complex in external nadh transport into yeast mitochondria depleted of mitochondrial porin1.	the protein(s) responsible for metabolite transport through the outer membrane of the yeast saccharomyces cerevisiae mitochondria depleted of mitochondrial porin (also known as voltage-dependent anion selective channel), termed here porin1, is (are) still unidentified. it is postulated that the transport may be supported by the protein import machinery of the outer membrane, the tom complex (translocase of the outer membrane). we demonstrate here that in the absence of functional porin1, the blo ...	2000	11118520
interaction of the c-terminal tail region of the metabotropic glutamate receptor 7 with the protein kinase c substrate pick1.	group iii metabotropic glutamate receptors (mglurs) are highly enriched in the presynaptic terminals of glutamatergic synapses where they mediate feedback inhibition of neurotransmitter release. here, we used the yeast two-hybrid system to identify a direct interaction of the c-terminal tail region of mglur7 with the rat homologue of the protein kinase c substrate pick1. this interaction is specifically mediated by the very c-terminal amino acids of the receptor and can be reconstituted in human ...	2000	11122333
candidate mutator genes in mismatch repair-deficient thymic lymphomas: no evidence of mutations in the dna polymerase delta gene.	dna mismatch repair (mmr) proteins recognize nucleotides that are incorrectly paired. deficiencies in mmr lead to increased genomic instability reflected in an increased mutation frequency and predisposition to tumorigenesis. mice lacking the mmr gene, msh2, develop thymic lymphomas that exhibit much higher mutational frequencies than other msh2(-/-) tumours and msh2(-/-) normal thymic tissue, suggesting that an additional mutator may have been acquired in a tissue-specific manner. clustered mut ...	2000	11133819
vezatin, a novel transmembrane protein, bridges myosin viia to the cadherin-catenins complex.	defects in myosin viia are responsible for deafness in the human and mouse. the role of this unconventional myosin in the sensory hair cells of the inner ear is not yet understood. here we show that the c-terminal ferm domain of myosin viia binds to a novel transmembrane protein, vezatin, which we identified by a yeast two-hybrid screen. vezatin is a ubiquitous protein of adherens cell-cell junctions, where it interacts with both myosin viia and the cadherin-catenins complex. its recruitment to ...	2000	11080149
the murine dscr1-like (down syndrome candidate region 1) gene family: conserved synteny with the human orthologous genes.	a recently recognized gene family, conserved from yeast to humans, includes down syndrome candidate region 1 gene (dscr1), adapt78 (recognized as the hamster ortholog of the dscr1 isoform 4), zaki-4 (renamed dscr1-like 1, dscr1l1) and dscr1l2 (a novel gene on human chromosome 1), along with yeast and c. elegans single members (strippoli p., lenzi l., petrini m., carinci p., zannotti m., 2000. a new gene family including dscr1 (down syndrome candidate region 1) and zaki-4: characterization from y ...	2000	11080588
the human preprotachykinin-a gene promoter has been highly conserved and can drive human-like marker gene expression in the adult mouse cns.	toward an understanding of the mechanisms controlling preprotachykinin-a (ppta) transcription, we introduced a 380-kb human yeast artificial chromosome containing the ppta gene tagged with the beta-galactosidase gene into transgenic mice. this resulted in a pattern of lacz expression in the central nervous system (cns) remarkably similar to that reported for ppta mrna in the rat. however, the human gene drove expression in areas of the mouse cns not associated with strong ppta expression in rode ...	2000	11083923
identification of ribonucleotide reductase protein r1 as an activator of microtubule nucleation in xenopus egg mitotic extracts.	microtubule nucleation on the centrosome and the fungal equivalent, the spindle pole body (spb), is activated at the onset of mitosis. we previously reported that mitotic extracts prepared from xenopus unfertilized eggs convert the interphase spb of fission yeast into a competent state for microtubule nucleation. in this study, we have purified an 85-kda spb activator from the extracts and identified it as the ribonucleotide reductase large subunit r1. we further confirmed that recombinant mouse ...	2000	11102516
construction and characterization of bispecific costimulatory molecules containing a minimized cd86 (b7-2) domain and single-chain antibody fragments for tumor targeting.	efficient t-cell activation requires two signals. the first signal, which confers specificity, is provided by interaction of the t-cell receptor with peptides presented by mhc molecules. one of the second costimulatory signals is induced by binding of b7 proteins on the surface of antigen-presenting cells to cd28 on the t-cell surface. expression of b7 molecules on tumor cells can result in the activation of tumor specific t lymphocytes and induce protective antitumor immunity. however, at prese ...	2000	11106249
the mouse spo11 gene is required for meiotic chromosome synapsis.	the spo11 protein initiates meiotic recombination by generating dna double-strand breaks (dsbs) and is required for meiotic synapsis in s. cerevisiae. surprisingly, spo11 homologs are dispensable for synapsis in c. elegans and drosophila yet required for meiotic recombination. disruption of mouse spo11 results in infertility. spermatocytes arrest prior to pachytene with little or no synapsis and undergo apoptosis. we did not detect rad51/dmc1 foci in meiotic chromosome spreads, indicating dsbs a ...	2000	11106738
cloning and characterization of human vps35 and mouse vps35 and mapping of vps35 to human chromosome 16q13-q21.	maintenance of different organelles in eukaryotic cells depends on sorting proteins, which ensure the proper delivery of organelle-specific proteins. the studies on yeast (saccharomyces cerevisiae) vps35, a hydrophilic membrane protein having a direct role in the retrieval of cargo proteins, suggest a mechanism underlying a possible lysosomal protein-sorting pathway in mammalian cells. here, we report the isolation of human and mouse vps35 cdnas, which are 3208 and 3186 bp in length, respectivel ...	2000	11112353
distinct regions of the chicken p46 polypeptide are required for its in vitro interaction with histones h2b and h4 and histone acetyltransferase-1.	we cloned cdna encoding the chicken p46 polypeptide, chp46, homologous to the p48 subunit of chicken chromatin assembly factor-1, chcaf-1p48. it comprises 424 amino acids including a putative initiation met, is a member of the wd protein family, with seven wd repeat motifs, and exhibits 90.3% identity to chcaf-1p48 and 94.3% identity to the human and mouse p46 polypeptides (hup46 and mop46). the in vitro immunoprecipitation experiment established that chp46 interacts with histones h2b and h4 and ...	2000	11112423
n-linked oligosaccharide processing enzyme glucosidase ii produces 1,5-anhydrofructose as a side product.	alpha-1,4-glucan lyase cleaves alpha-1,4-linkages of nonreducing termini of alpha-1,4-glucans to produce 1,5-anhydrofructose (1,5-anfru). the enzymes isolated from fungi and algae show high homology with glycoside hydrolase family 31. purification of alpha-1,4-glucan lyase from rat liver using deae cellulose chromatography resulted in separation of two enzymatic active fractions, one was bound to the column and the other was in the flow-through. partial amino acid sequence determined from the ly ...	2000	11159920
characterization of sphingolipid long-chain base kinase in arabidopsis thaliana.	sphingolipid long-chain base (lcb) kinase catalyses the phosphorylation of sphingolipid lcb to form lcb 1-phosphate. based on sequence identity to a murine sphingosine kinase (murine sphk1a), we isolated and characterized a lcb kinase-like cdna in arabidopsis thaliana. the deduced amino acid sequence of the homologous cdna shows several regions that are highly conserved in lcb kinases from mouse, yeast, human and caenorhabditis elegans. these regions are not similar to those of other known kinas ...	2000	11171192
expression and catalytic activity of mouse leukotriene b4 omega-hydroxylase, cyp4f14.	we have isolated a cdna for a mouse leukotriene b4 omega-hydroxylase, cyp4f14. the cdna encoded a protein with 524 amino acids, whose sequence similarity is 95% that of rat cyp4f1. the microsomes from yeast cells transfected with cyp4f14 expression vector showed 0.1 nmol p450/mg protein and catalyzed omega-hydroxylations of leukotriene b4, 6-trans-leukotriene b4, lipoxin a4, prostaglandin a1, and several hydroxyeicosatetraeonic acids (hetes), with 8-hete being the most active substrate. in contr ...	2000	11185557
pathogenesis of prion diseases: a progress report.	almost 20 years have passed since stanley prusiner proposed that the agent causing transmissible spongiform encephalopathies consists exclusively of a protein and termed it prion. a mixed balance can be drawn from the enormous research efforts that have gone into prion research during this time. on the negative side, the protein-only hypothesis has not been conclusively proven yet. on the positive side, our understanding of spongiform encephalopathies has experienced tremendous advances, mostly ...	2000	11279534
characterization of mouse ire1 alpha: cloning, mrna localization in the brain and functional analysis in a neural cell line.	in yeast, an endoplasmic reticulum (er)-associated protein, ire1p, is believed to initiate the unfolded protein response (upr), that is responsible for protein folding in the er under stressed conditions. two mammalian homologs of ire1p have been identified, ire1 alpha and ire1 beta. we have previously reported that familial alzheimer's disease linked presenilin-1 variants downregulate the signaling pathway of the upr by affecting the phosphorylation of ire1 alpha. in the present study, we clone ...	2000	11146108
direct interactions of the five known fanconi anaemia proteins suggest a common functional pathway.	fanconi anaemia (fa) is an autosomal recessive inherited disorder associated with a progressive aplastic anaemia, diverse congenital abnormalities and cancer. the condition is genetically heterogeneous, with at least seven complementation groups (a-g) described. cells from individuals who are homozygous for mutations in fa genes are characterized by chromosomal instability and hypersensitivity to dna interstrand crosslinking agents. these features suggest a possible role for the encoded proteins ...	2001	11157805
two distinct nuclear receptor-interaction domains and creb-binding protein-dependent transactivation function of activating signal cointegrator-2.	asc-2 is a recently isolated transcriptional cointegrator molecule, which is amplified in human cancers and stimulates transactivation by nuclear receptors, ap-1, nuclear factor kappab (nfkappab), serum response factor (srf), and numerous other transcription factors. asc-2 contained two nuclear receptor-interaction domains, both of which are dependent on the integrity of their core lxxll sequences. surprisingly, the c-terminal lxxll motif specifically interacted with oxysterol receptor lxrss, wh ...	2001	11158331
molecular effects of eya1 domain mutations causing organ defects in bor syndrome.	eya1 is a critical gene for mammalian organogenesis. mutations in human eya1 cause branchio-oto-renal (bor) syndrome, an autosomal dominant disorder characterized by varying combinations of branchial, otic and renal anomalies, whereas deletion of mouse eya1 results in the absence of multiple organ formation. eya1 and other eya gene products share a highly conserved 271 amino acid eya domain that is required for protein-protein interaction. recently, several point mutations that result in single ...	2001	11734542
interaction of dna polymerase beta with grip1 during meiosis.	dna polymerase beta (pol beta) is an essential enzyme that has been shown to localize as discrete foci to the synaptonemal complex during meiosis in the mouse. to identify proteins that associate with pol beta during meiosis, we employed the yeast two-hybrid screen. here we show that a multiple pdz domain-containing protein, the glutamate receptor interacting protein 1 (grip1), interacts specifically with pol beta. the pdz domain-containing proteins, including grip1, act as scaffolds to promote ...	2001	11734998
crystal structure of sar1-gdp at 1.7 a resolution and the role of the nh2 terminus in er export.	the sar1 gtpase is an essential component of copii vesicle coats involved in export of cargo from the er. we report the 1.7-a structure of sar1 and find that consistent with the sequence divergence of sar1 from arf family gtpases, sar1 is structurally distinct. in particular, we show that the sar1 nh2 terminus contains two regions: an nh2-terminal extension containing an evolutionary conserved hydrophobic motif that facilitates membrane recruitment and activation by the mammalian sec12 guanine n ...	2001	11739406
gene expression profiling of low selenium status in the mouse intestine: transcriptional activation of genes linked to dna damage, cell cycle control and oxidative stress.	the essential trace mineral selenium (se) has been shown previously to inhibit intestinal, prostate, lung and liver tumor development and associated mortality in both experimental animals and humans. although se is likely to be one of the most powerful cancer chemopreventive agents in the human diet, its mechanism of action is unknown. to better understand the biological consequences of alterations in se status, the gene expression profile associated with low se status in the intestine of c57bl/ ...	2001	11739862
expression of ccaat/enhancer binding protein family genes in monolayer and sandwich culture of hepatocytes: induction of stress-inducible gadd153.	removal of hepatocytes from their physiological environment for experimentation in vitro activates loss of liver-specific phenotype. hepatocytes cultured in a sandwich configuration reportedly maintain greater expression of certain liver-specific genes than hepatocytes in monolayer cultures. we show that sandwich culture of rat hepatocytes improves retention of expression of a liver-enriched transcription factor, c/ebpalpha (ccaat/enhancer binding protein alpha), which regulates many liver-speci ...	2001	11741281
regulation of meiotic recombination and prophase i progression in mammals.	meiosis is the process by which diploid germ cells divide to produce haploid gametes for sexual reproduction. the process is highly conserved in eukaryotes, however the recent availability of mouse models for meiotic recombination has revealed surprising regulatory differences between simple unicellular organisms and those with increasingly complex genomes. moreover, in these higher eukaryotes, the intervention of physiological and sex-specific factors may also influence how meiotic recombinatio ...	2001	11746216
classification of pdz domains.	a diverse family of pdz domains has been identified, but the rules that govern their ligand specificity are not clear. here we propose a novel classification of pdz domains based on the nature of amino acids in the two critical positions in the pdz domain fold. using these principles, we classified pdz domains present in the smart database. using yeast two-hybrid, in vitro pull-down and plasmon surface resonance assays, we demonstrated that in agreement with their position in the proposed classi ...	2001	11749973
specific tetraspanin functions.	relatively little attention has been given to the large family of abundantly expressed transmembrane proteins known as tetraspanins. now, the importance of tetraspanins is strongly supported by emerging genetic evidence, coupled with new insights into the biochemistry and functions of tetraspanin protein complexes.	2001	11756464
[study on anti-inflammatory, analgesic and antipyretic effects of bagmaking tea of sanyaku].	to observe anti-inflammatory, analgesic and antipyretic effects of the bagmaking tea of sanyaku in rats.	2001	11799781
design and application of a cytokine-receptor-based interaction trap.	ligand-induced clustering of type i cytokine receptor subunits leads to trans-phosphorylation and activation of associated cytosolic janus kinases (jaks). in turn, jaks phosphorylate tyrosine residues in the receptor tails, leading to recruitment and activation of signalling molecules. among these, signal transducers and activators of transcription (stats) are important in the direct transmission of signals to the nucleus. here, we show that incorporation of an interaction trap in a signalling-d ...	2001	11781573
identification and characterization of two genes encoding the eukaryotic initiation factor 4a in rice.	a cdna encoding eukaryotic translation initiation factor 4a (eif4a) was isolated from a cdna library of rice (oryza sativa l.). based on this dna sequence, a 414-amino acid protein exhibiting 67, 64 and 59% homology to the mouse, schizosaccharomyces pombe and saccharomyces cerevisiae eif4a, respectively, was predicted. the deduced amino acid sequence contains the characteristic motifs shared by the dead box supergene family. another cdna of rice eif4a was reported previously. comparison of the c ...	2001	11913775
regulation of eosinophil and neutrophil apoptosis--similarities and differences.	apoptosis is the most common form of physiologic cell death and a necessary process to maintain cell numbers in multicellular organisms. in many chronic inflammatory diseases, reduced cell death of different types of granulocytes is one important mechanism for cell accumulation. granulocytes are constantly produced in large amounts in the bone marrow and the same numbers die, under normal circumstances, within a defined time period. changing the rate of apoptosis rapidly changes cell numbers in ...	2001	11292018
its8, a fission yeast homolog of mcd4 and pig-n, is involved in gpi anchor synthesis and shares an essential function with calcineurin in cytokinesis.	in fission yeast, calcineurin is required for cytokinesis and ion homeostasis; however, most of its physiological roles remain obscure. to identify genes that share an essential function with calcineurin, we screened for mutations that confer sensitivity to the calcineurin inhibitor fk506 and high temperature and isolated the mutant its8-1. its8(+) encodes a homolog of the budding yeast mcd4 and human pig-n that are involved in glycosylphosphatidylinositol (gpi) anchor synthesis. consistently, r ...	2001	11297516
the cryptococcus neoformans ste11alpha gene is similar to other fungal mitogen-activated protein kinase kinase kinase (mapkkk) genes but is mating type specific.	partial sequence analysis of the cryptococcus neoformans matalpha mating type locus revealed the presence of a gene with substantial sequence similarity to other fungal mitogen-activated protein (map) kinase kinase kinase (mapkkk) genes. the c. neoformans gene, designated ste11alpha, showed the highest degree of similarity to the neurospora crassa nrc-1, schizosaccharomyces pombe byr2 and saccharomyces cerevisiae ste11 genes. a polymerase chain reaction-mediated sib-selection technique was succe ...	2001	11298287
tumor-associated antigens identified by mrna expression profiling induce protective anti-tumor immunity.	defined tumor-associated antigens (taa) are attractive targets for anti-tumor immunotherapy. here, we describe a novel genome-wide approach to identify multiple taa from any given tumor. a panel of transplantable thymomas was established from an inbred p53-/- mouse strain. the resulting tumors were examined for gene expression by mrna microarray scanning. this analysis revealed heterogeneity of the tumors in agreement with the assumption that they represent different tumorigenic events. several ...	2001	11298350
cloning, organisation, chromosomal localization and expression analysis of the mouse prkag1 gene.	the mammalian 5'-amp-activated protein kinase (ampk) is a heterotrimeric protein consisting of alpha-, beta- and gamma-subunits. the alpha-subunit is the catalytic subunit. the non-catalytic subunits ampk-beta and ampk-gamma form, together with the catalytic ampk-alpha, the active kinase complex in mammals and its homologue in yeast. the gene for ampk-gamma-1 has been designated recently as prkag1. we have isolated mouse prkag1 cdna from testis (1623 nt) coding for 330 aa and we have shown its u ...	2001	11306812
a novel snare n-terminal domain revealed by the crystal structure of sec22b.	intra-cellular membrane fusion is facilitated by the association of snares from opposite membranes into stable alpha-helical bundles. many snares, in addition to their alpha-helical regions, contain n-terminal domains that likely have essential regulatory functions. to better understand this regulation, we have determined the 2.4-a crystal structure of the 130-amino acid n-terminal domain of mouse sec22b (msec22b), a snare involved in endoplasmic reticulum/golgi membrane trafficking. the domain ...	2001	11309394
osp/claudin-11 forms a complex with a novel member of the tetraspanin super family and beta1 integrin and regulates proliferation and migration of oligodendrocytes.	oligodendrocyte-specific protein (osp)/claudin-11 is a major component of central nervous system myelin and forms tight junctions (tjs) within myelin sheaths. tjs are essential for forming a paracellular barrier and have been implicated in the regulation of growth and differentiation via signal transduction pathways. we have identified an osp/claudin-11-associated protein (oap)1, using a yeast two-hybrid screen. oap-1 is a novel member of the tetraspanin superfamily, and it is widely expressed i ...	2001	11309411
a novel actin-related protein gene of colletotrichum gloeosporioides f. sp. malvae shows altered expression corresponding with spore production.	a novel actin-related protein (arp) was found in the plant pathogenic fungus, colletotrichum gloeosporioides f. sp. malvae (cgm), which causes anthracnose disease of round-leaved mallow (malva pusilla). sequence comparisons showed that this gene, arpa, belongs to the highly divergent 'other arps' category in the current arp classification system. arpa is most similar to the arp11 gene of mus musculus but has a unique structure with deletions at the c-terminus similar to that of the arp10 gene of ...	2001	11313136
runx2: a novel oncogenic effector revealed by in vivo complementation and retroviral tagging.	the runx2 (cbfa1, pebp2alphaa, aml3) gene was previously identified as a frequent target for transcriptional activation by proviral insertion in t-cell lymphomas of cd2-myc transgenic mice. we have recently shown that over-expression of the full-length, most highly expressed runx2 isoform in the thymus perturbs t-cell development, leads to development of spontaneous lymphomas at low frequency and is strongly synergistic with myc. to gain further insight into the relationship of runx2 to other ly ...	2001	11313958
human itch is a coregulator of the hematopoietic transcription factor nf-e2.	we have cloned a new protein that interacts with the hematopoietic dna-binding transcription factor, p45/nf-e2, by screening a human erythroleukemia cell cdna library with the yeast two-hybrid approach. predicted peptide sequence and chromosomal mapping identified the cloned molecule to be the product of the human ortholog of the mouse itch gene, which has been implicated previously in the regulation of growth and differentiation of erythroid and lymphoid cells. transfection experiments indicate ...	2001	11318614
intersection of interferon and hypoxia signal transduction pathways in nitric oxide-induced tumor apoptosis.	activated macrophages play a central role in antitumor immunity. however, the stimuli that activate macrophages to kill tumor cells are not completely understood. because the center of solid tumors can be hypoxic, we hypothesized that hypoxia may be an important signal in activating macrophages to kill tumor cells. hypoxia stimulates ifn-primed macrophages to express the inducible nitric oxide synthase (nos2) and to synthesize nitric oxide (no). we show that this synergy between ifn and hypoxia ...	2001	11325839
cloning and identification of mypt3: a prenylatable myosin targetting subunit of protein phosphatase 1.	to identify novel protein phosphatase 1 (pp1)-interacting proteins, a yeast two-hybrid 3t3-l1 adipocyte cdna library was screened with the catalytic subunit of pp1 as bait. in the present work, the isolation, identification and initial biochemical characterization of a novel pp1-interacting protein, mypt3, which is homologous with the myosin phosphatase targetting subunit (mypt) family, is described. mypt3 aligns >99% with a region of mouse genomic dna clone rp23-156p23 and localizes to chromoso ...	2001	11336659
from xeroderma pigmentosum to the biological clock contributions of dirk bootsma to human genetics.	this paper commemorates the multiple contributions of dirk bootsma to human genetics. during a scientific 'bootsma' cruise on his sailing-boat 'de losbol', we visit a variety of scenery locations along the lakes and canals in friesland, passing the highlights of dirk bootsma's scientific oeuvre. departing from 'de fluessen', his homeport, with his phd work on the effect of x-rays and uv on cell cycle progression, we head for the pioneering endeavours of his team on mapping genes on human chromos ...	2001	11341993
identification of human and mouse hira-interacting protein-5 (hirip5), two mammalian representatives in a family of phylogenetically conserved proteins with a role in the biogenesis of fe/s proteins.	the human hira protein is encoded from a region of chromosome 22q that is critical for the digeorge syndrome and the velocardiofacial syndrome. we have previously reported that it directly interacts with core histones, with a novel histone-binding protein, hirip3, and during mouse embryogenesis, with the developmentally regulated homeodomain protein pax3, suggesting a promoter-targeted function at the chromatin level. we here report on hira-interacting protein 5 (hirip5), a small acidic protein ...	2001	11342215
effects of cysteine to serine substitutions in the two inter-chain disulfide bonds of insulin.	using site-directed mutagenesis we deleted the two inter-chain disulfide bonds of insulin, separately or both, by substitution of the cysteine residues with serine. deletion of a20-b19 or both of the two inter-chain disulfide bonds resulted in the complete loss of secretion of the mutant single-chain porcine insulin precursor (pip) from saccharomyces cerevisiae cells. removal of the a7-b7 disulfide bond resulted in a large reduction of secretion, but we could obtain the mutant for analysis of it ...	2001	11347892
friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (review).	friedreich's ataxia is an autosomal recessive neuro-degenerative disorder involving both central and peripheral nervous system. patients also show a systemic clinical picture presenting heart disease and diabetes mellitus or glucose intolerance. the disease is caused by mutations in the frda gene mapped on chromosome 9q13. the product of the gene is frataxin, an 18 kda soluble mitochondrial protein with 210 amino acids. crystal structure suggests a new, not previously reported, protein fold. the ...	2001	11351269
genomic organization, expression, and localization of murine ran-binding protein 2 (ranbp2) gene.	the ran-binding protein 2 (ranbp2) is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the ran-gtpase cycle. there are no orthologs of the ranbp2 gene in yeast and drosophila genomes. in humans, this bona fide gene is partially duplicated in a ranbp2 gene cluster and lies in a hot spot for recombination on chromosome (chr) 2q. this genetic heterogeneity renders further significance of this genomic region in human disease due to its possible involvement in genetically lin ...	2001	11353387
unravelling the complex genetics of cleft lip in the mouse model.	nonsyndromic cleft lip in "a" strain mice and humans is genetically complex and is distinct from isolated cleft palate. cleft lip embryos recovered in 2.4% of 1485 first backcross (bc1) segregants from a cross of a/wysnj (24% cleft lip) and c57bl/6j (no cleft lip) in a/wysnj mothers, and in testcrosses of 10 recombinant inbred (ri) strains (axb/pgn or bxa/pgn), were used for gene mapping and for inference of genetic architecture. the a/wysnj maternal genotype increased cleft lip risk in reciproc ...	2001	11353389
dqx1, an rna-dependent atpase homolog with a novel deaq box: expression pattern and genomic sequence comparison of the human and mouse genes.	dqx1 is a novel gene related to the rna-dependent atpases. the gene was classified as a member of the dead/h family on the basis of the conserved order and spacing of ten short protein motifs. the unique features of dqx1 include replacement of the signature deah motif with deaq and the absence of the helicase motif. we determined the coding sequences of human and mouse dqx1, which encode proteins of 717 and 718 amino acids with 84% amino acid sequence identity. the 3.2-kb dqx1 transcript has hig ...	2001	11353393
identification and characterization of the cryptococcus neoformans phosphomannose isomerase-encoding gene, man1, and its impact on pathogenicity.	the polysaccharide capsule surrounding cryptococcus neoformans comprises manose, xylose and glucuronic acid, of which mannose is the major constituent. the gdp-mannose biosynthesis pathway is highly conserved in fungi and consists of three key enzymes: phosphomannose isomerase (pmi), phosphomannomutase (pmm) and gdp-mannose pyrophosphorylase (gmp). the man1 gene, encoding for the pmi enzyme, was isolated and sequenced from c. neoformans, and a disruption of the man1 gene was generated. one man1 ...	2001	11359567
ucs15a, a non-kinase inhibitor of src signal transduction.	src tyrosine kinase plays key roles in signal transduction following growth factor stimulation and integrin-mediated cell-substrate adhesion. since src-signal transduction defects are implicated in a multitude of human diseases, we have sought to develop new ways to identify small molecule inhibitors using a yeast-based, activated-src over-expression system. in the present study, we describe the identification of a unique src-signal transduction inhibitor, ucs15a. ucs15a was found to inhibit the ...	2001	11360191
regulation of the p21-activated kinase (pak) by a human gbeta -like wd-repeat protein, hpip1.	the family of p21-activated protein kinases (paks) is composed of serine-threonine kinases whose activity is regulated by the small guanosine triphosphatases (gtpases) rac and cdc42. in mammalian cells, paks have been implicated in the regulation of mitogen-activated protein cascades, cellular morphological and cytoskeletal changes, neurite outgrowth, and cell apoptosis. although the ability of cdc42 and rac gtpases to activate pak is well established, relatively little is known about the negati ...	2001	11371639
lung krüppel-like factor contains an autoinhibitory domain that regulates its transcriptional activation by binding wwp1, an e3 ubiquitin ligase.	lung krüppel-like factor (lklf/krüppel-like factor 2), a member of the krüppel-like factor family of transcription factors, is expressed predominantly in the lungs, with low levels of expression in other organs such as heart, spleen, skeletal muscle, and testis. lklf is essential during pulmonary development and single-positive t-cell development and is indispensable during mouse embryogenesis. in this study, we performed a series of experiments to define the activation domain of lklf as a means ...	2001	11375995
fibroblast growth factor homologous factor 1b binds to the c terminus of the tetrodotoxin-resistant sodium channel rnav1.9a (nan).	in this study we demonstrate a direct interaction between a cytosolic fibroblast growth factor family member and a sodium channel. a yeast two-hybrid screen for proteins that associate with the cytoplasmic domains of the tetrodotoxin-resistant sodium channel rna(v)1.9a (nan) led to the identification of fibroblast growth factor homologous factor 1b (fhf1b), a member of the fibroblast growth factor family, as an interacting partner of rna(v)1.9a. fhf1b selectively interacts with the c-terminal re ...	2001	11376006
three loci on mouse chromosome 6 influence onset and final incidence of type i diabetes in nod.c3h congenic strains.	the development of insulin-dependent diabetes mellitus in both human and mouse is dependent on the interaction between genetic and environmental factors. the analysis of newly created nod.c3h congenic strains for spontaneous and cyclophosphamide-induced diabetes has allowed the definition of three controlling genetic loci on mouse chromosome 6. a nod-derived susceptibility allele at the idd6 locus strongly influences the onset of diabetes in spontaneous diabetes. a nod-derived resistance allele ...	2001	11386752
mutations in cdh23 cause nonsyndromic hearing loss in waltzer mice.	mutations at the waltzer (v) locus result in deafness and vestibular dysfunction due to degeneration of the neuroepithelium within the inner ear. here, we use a positional cloning approach to show that waltzer encodes a novel cadherin (cdh23), which is most closely related to the drosophila fat protein. a single nucleotide deletion in the v(j) allele and a single nucleotide insertion in the v allele are predicted to truncate each protein near the n-terminus and produce a functional null allele. ...	2001	11386759
genetic and molecular characterization of skb15, a highly conserved inhibitor of the fission yeast pak, shk1.	the p21-activated kinase, shk1, is essential for viability, establishment and maintenance of cell polarity, and proper mating response in the fission yeast, schizosaccharomyces pombe. here we describe the characterization of a highly conserved, wd repeat protein, skb15, which negatively regulates shk1 in fission yeast. a null mutation in the skb15 gene is lethal and results in deregulation of actin polymerization and localization, microtubule biogenesis, and the cytokinetic machinery, as well as ...	2001	11389855
bcl-2 targets protein phosphatase 1 alpha to bad.	the diverse forms of protein phosphatase 1 (pp1) in vivo result from the association of the catalytic subunit with different regulatory subunits. we recently have described that pp1alpha is a ras-activated bad phosphatase that regulates il-2 deprivation-induced apoptosis. with the yeast two-hybrid system, gst fusion proteins, indirect immunofluorescence, and coimmunoprecipitation, we found that bcl-2 interacts with pp1alpha and bad. in contrast, bad did not interact with 14-3-3 protein. bcl-2 de ...	2001	11390485
rhythmic expression of nocturnin mrna in multiple tissues of the mouse.	nocturnin was originally identified by differential display as a circadian clock regulated gene with high expression at night in photoreceptors of the african clawed frog, xenopus laevis. although encoding a novel protein, the nocturnin cdna had strong sequence similarity with a c-terminal domain of the yeast transcription factor ccr4, and with mouse and human ests. since its original identification others have cloned mouse and human homologues of nocturnin/ccr4, and we have cloned a full-length ...	2001	11394964
recent molecular advances in studies of the concentrative na+-dependent nucleoside transporter (cnt) family: identification and characterization of novel human and mouse proteins (hcnt3 and mcnt3) broadly selective for purine and pyrimidine nucleosides (system cib).	the human concentrative (na+-linked) plasma membrane transport proteins hcnt1 and hcnt2, found primarily in specialized epithelia, are selective for pyrimidine nucleosides (system cit) and purine nucleosides (system cif), respectively. both have orthologs in other mammalian species and belong to a gene family (cnt) that also includes members in lower vertebrates, insects, nematodes, pathogenic yeast and bacteria. the cnt transporter family also includes a newly identified human and mouse cnt3 tr ...	2001	11396613
biochemical studies of zmpste24-deficient mice.	genetic studies in saccharomyces cerevisiae identified two genes, ste24 and rce1, involved in cleaving the three carboxyl-terminal amino acids from isoprenylated proteins that terminate with a caax sequence motif. ste24p cleaves the carboxyl-terminal "-aax" from the yeast mating pheromone a-factor, whereas rce1p cleaves the -aax from both a-factor and ras2p. ste24p also cleaves the amino terminus of a-factor. the mouse genome contains orthologues for both yeast rce1 and ste24. we previously demo ...	2001	11399759
mouse fatty acid transport protein 4 (fatp4): characterization of the gene and functional assessment as a very long chain acyl-coa synthetase.	fatp4 (slc27a4) is a member of the fatty acid transport protein (fatp) family, a group of evolutionarily conserved proteins that are involved in cellular uptake and metabolism of long and very long chain fatty acids. we cloned and characterized the murine fatp4 gene and its cdna. from database analysis we identified the human fatp4 genomic sequence. the fatp4 gene was assigned to mouse chromosome 2 band b, syntenic to the region 9q34 encompassing the human gene. the open reading frame was determ ...	2001	11404000
cloning, characterization and mapping of the mouse trehalase (treh) gene.	trehalase is the least studied of the membrane-bound alpha- glucosidase enzymes. here we report the isolation and characterization of the mouse trehalase (treh) gene. initially, pcr using primers based on published rat cdna sequence was used to clone a partial mouse cdna. this allowed design of mouse primers which identified a single positive clone in a bacterial artificial chromosome (bac) library of mouse genomic dna. analysis of bac subclones showed that the treh structural gene spans approxi ...	2001	11404018
heterogeneous rna-binding protein m4 is a receptor for carcinoembryonic antigen in kupffer cells.	here we report the isolation of the recombinant cdna clone from rat macrophages, kupffer cells (kc) that encodes a protein interacting with carcinoembryonic antigen (cea). to isolate and identify the cea receptor gene we used two approaches: screening of a kc cdna library with a specific antibody and the yeast two-hybrid system for protein interaction using as a bait the n-terminal part of the cea encoding the binding site. both techniques resulted in the identification of the rat heterogeneous ...	2001	11406629
requirement of cdc45 for postimplantation mouse development.	cdc45 is required for the initiation of dna replication in saccharomyces cerevisiae and functions as a dna polymerase alpha loading factor in xenopus, but its role in mammalian dna replication is unknown. to investigate the genetic and physiological functions of cdc45, we used a gene targeting strategy to generate mice lacking a functional cdc45 gene. homozygous mutant mice lacking a functional cdc45 gene underwent uterine implantation and induced uterine decidualization but did not develop subs ...	2001	11416137
the mammalian guanine nucleotide exchange factor msec12 is essential for activation of the sar1 gtpase directing endoplasmic reticulum export.	the sar1 gtpase is an essential component of copii vesicle coats involved in export of cargo from the endoplasmic reticulum of mammalian cells. to begin to elucidate its mechanism of action, we now report the identity of the mammalian homolog to the yeast sec12 guanine nucleotide exchange factor (18% identity) that promotes sar1 activation. mammalian sec12 (msec12) is a type ii transmembrane protein with a large cytosolic domain, a fragment of which has previously been reported as the transcript ...	2001	11422940
the synovial sarcoma associated protein syt interacts with the acute leukemia associated protein af10.	as a result of the synovial sarcoma associated t(x;18) translocation, the human syt gene on chromosome 18 is fused to either the ssx1 or the ssx2 gene on the x chromosome. although preliminary evidence indicates that the (fusion) proteins encoded by these genes may play a role in transcriptional regulation, little is known about their exact function. we set out to isolate interacting proteins through yeast two hybrid screening of a human cdna library using syt as a bait. of the positive clones i ...	2001	11423977
protein dispensability and rate of evolution.	if protein evolution is due in large part to slightly deleterious amino acid substitutions, then the rate of evolution should be greater in proteins that contribute less to individual fitness. the rationale for this prediction is that relatively dispensable proteins should be subject to weaker purifying selection, and should therefore accumulate mildly deleterious substitutions more rapidly. although this argument was presented over twenty years ago, and is fundamental to many applications of ev ...	2001	11429604
rim1 and rabphilin-3 bind rab3-gtp by composite determinants partially related through n-terminal alpha -helix motifs.	rim1 is a protein of the presynaptic active zone, the area of the plasma membrane specialized for neurotransmitter exocytosis, and interacts with rab3, a small gtpase implicated in neurotransmitter vesicle dynamics. here, we have studied the molecular determinants of rim1 that are responsible for rab3 binding, employing surface plasmon resonance and recombinant, bacterially expressed rab3 and rim1 proteins. a site that binds gtp- but not gdp-saturated rab3 was localized to a short alpha-helical ...	2001	11431472
molecular and biochemical characterization of rat epsilon -n-trimethyllysine hydroxylase, the first enzyme of carnitine biosynthesis.	epsilon-n-trimethyllysine hydroxylase (ec ) is the first enzyme in the biosynthetic pathway of l-carnitine and catalyzes the formation of beta-hydroxy-n-epsilon-trimethyllysine from epsilon-n-trimethyllysine, a reaction dependent on alpha-ketoglutarate, fe(2+), and oxygen. we purified the enzyme from rat kidney and sequenced two internal peptides by quadrupole-time-of-flight mass spectroscopy. the peptide sequences were used to search the expressed sequence tag data base, which led to the identi ...	2001	11431483
reconstruction of ligand-dependent transactivation of choristoneura fumiferana ecdysone receptor in yeast.	ecdysteroids play an important role in regulating development and reproduction in insects. interaction of 20-hydroxyecdysone (20e) with ecdysone receptor (ecr) as a heterodimer with ultraspiracle (usp) protein triggers the activation of 20e-responsive genes. in this paper we describe a ligand-mediated transactivation system in yeast using the spruce budworm choristoneura fumiferana ecdysone receptor (cfecr). coexpression of c. fumiferana usp (cfusp) with cfecr in yeast led to constitutive transc ...	2001	11435614
phosphorylation of mcm4 at specific sites by cyclin-dependent kinase leads to loss of mcm4,6,7 helicase activity.	mcm proteins that play an essential role in eukaryotic dna replication are phosphorylated in vivo, and cyclin-dependent protein kinase is at least in part responsible for the phosphorylation of mcm4. our group reported that the dna helicase activity of mcm4,6,7 complex, which may be involved in initiation of dna replication, is inhibited following phosphorylation by cdk2/cyclin a in vitro. here, we further examined the interplay between mouse mcm4,6,7 complex and cyclin-dependent kinases and det ...	2001	11454864
specific association of nitric oxide synthase-2 with rac isoforms in activated murine macrophages.	nitric oxide synthase-2 (nos2) is responsible for high-output nitric oxide production important in renal inflammation and injury. using a yeast two-hybrid assay, we identified rac2, a rho gtpase member, as a nos2-interacting protein. nos2 and rac2 proteins coimmunoprecipitated from activated raw 264.7 macrophages. the two proteins colocalized in an intracellular compartment of these cells. glutathione-s-transferase (gst) pull-down assays revealed that both rac1 and rac2 associated with gst-nos2 ...	2001	11457725
the mouse mps1p-like kinase regulates centrosome duplication.	the yeast mps1p protein kinase acts in centrosome duplication and the spindle assembly checkpoint. we demonstrate here that a mouse mps1p ortholog (esk, which we designate mmps1p) regulates centrosome duplication. endogenous mmps1p and overexpressed gfp-mmps1p localize to centrosomes and kinetochores in mouse cells. overexpression of gfp-mmps1p causes reduplication of centrosomes during s phase arrest. in contrast, a kinase-deficient mutant blocks centrosome duplication altogether. control of ce ...	2001	11461705
the orphan nuclear receptor tr2 interacts directly with both class i and class ii histone deacetylases.	a combination of in vivo and in vitro assays was employed to describe the ligand-independent interaction of the orphan nuclear receptor tr2 and histone deacetylase proteins. the repressive effect of tr2 on transcription of a luciferase reporter driven by a promoter containing a direct repeat-5 (dr5) derived from the human rarbeta gene was suppressed by the addition of the histone deacetylase inhibitor trichostatin a. immunoprecipitation with flag-epitope (mdykddddk)-tagged histone deacetylase pr ...	2001	11463856
induction of a mitosis delay and cell lysis by high-level secretion of mouse alpha-amylase from saccharomyces cerevisiae.	some foreign proteins are produced in yeast in a cell cycle-dependent manner, but the cause of the cell cycle dependency is unknown. in this study, we found that saccharomyces cerevisiae cells secreting high levels of mouse alpha-amylase have elongated buds and are delayed in cell cycle completion in mitosis. the delayed cell mitosis suggests that critical events during exit from mitosis might be disturbed. we found that the activities of pp2a (protein phosphatase 2a) and mpf (maturation-promoti ...	2001	11472949
mammalian golgi-associated bicaudal-d2 functions in the dynein-dynactin pathway by interacting with these complexes.	genetic analysis in drosophila suggests that bicaudal-d functions in an essential microtubule-based transport pathway, together with cytoplasmic dynein and dynactin. however, the molecular mechanism underlying interactions of these proteins has remained elusive. we show here that a mammalian homologue of bicaudal-d, bicd2, binds to the dynamitin subunit of dynactin. this interaction is confirmed by mass spectrometry, immunoprecipitation studies and in vitro binding assays. in interphase cells, b ...	2001	11483508
mammalian stag3 is a cohesin specific to sister chromatid arms in meiosis i.	cohesins, which have been characterized in budding yeast and xenopus, are multisubunit protein complexes involved in sister chromatid cohesion. regulation of the interactions among different cohesin subunits and the assembly/disassembly of the cohesin complex to chromatin are key steps in chromosome segregation. we previously characterized the mammalian stag3 protein as a component of the synaptonemal complex that is specifically expressed in germinal cells, although its function in meiosis rema ...	2001	11483963
a membrane protein enriched in endoplasmic reticulum exit sites interacts with copii.	although all mammalian copii components have now been cloned, little is known of their interactions with other regulatory proteins involved in exit from the endoplasmic reticulum (er). we report here that a mammalian protein (yip1a) that is about 31% identical to s. cerevisiae and which interacts with and modulates copii-mediated er-golgi transport. yip1a transcripts are ubiquitously expressed. transcripts of a related mammalian homologue, yip1b, are found specifically in the heart. indirect imm ...	2001	11489904
analysis of the stress resistance of commercial wine yeast strains.	alcoholic fermentation is an essential step in wine production that is usually conducted by yeasts belonging to the species saccharomyces cerevisiae. the ability to carry out vinification is largely influenced by the response of yeast cells to the stress conditions that affect them during this process. in this work, we present a systematic analysis of the resistance of 14 commercial s. cerevisiae wine yeast strains to heat shock, ethanol, oxidative, osmotic and glucose starvation stresses. signi ...	2001	11491086
brca1 mediates ligand-independent transcriptional repression of the estrogen receptor.	mutational inactivation of brca1 confers a cumulative lifetime risk of breast and ovarian cancers. however, the underlying basis for the tissue-restricted tumor-suppressive properties of brca1 remains poorly defined. here we show that brca1 mediates ligand-independent transcriptional repression of the estrogen receptor alpha (eralpha), a principal determinant of the growth, differentiation, and normal functional status of breasts and ovaries. in brca1-null mouse embryo fibroblasts and brca1-defi ...	2001	11493692
cloning and characterization of mouse ubpy, a deubiquitinating enzyme that interacts with the ras guanine nucleotide exchange factor cdc25(mm)/ras-grf1.	we used yeast "two-hybrid" screening to isolate cdna-encoding proteins interacting with the n-terminal domain of the ras nucleotide exchange factor cdc25(mm). three independent overlapping clones were isolated from a mouse embryo cdna library. the full-length cdna was cloned by race-polymerase chain reaction. it encodes a large protein (1080 amino acids) highly homologous to the human deubiquitinating enzyme hubpy and contains a well conserved domain typical of ubiquitin isopeptidases. therefore ...	2001	11500497
effects of dna nonhomologous end-joining factors on telomere length and chromosomal stability in mammalian cells.	dna repair by nonhomologous end-joining (nhej) relies on the ku70:ku80 heterodimer in species ranging from yeast to man. in saccharomyces cerevisiae and schizosaccharomyces pombe, ku also controls telomere functions. here, we show that ku70, ku80, and dna-pkcs, with which ku interacts, associate in vivo with telomeric dna in several human cell types, and we show that these associations are not significantly affected by dna-damaging agents. we also demonstrate that inactivation of ku80 or ku70 in ...	2001	11516951
interaction between growth arrest-dna damage protein 34 and src kinase lyn negatively regulates genotoxic apoptosis.	genotoxic stresses activate intracellular signaling molecules, which lead to growth arrest, dna repair, and/or apoptosis. among these molecules are the growth arrest and dna damage protein 34 (gadd34) and the src-related protein tyrosine kinase lyn. here, we report that these two proteins physically and functionally interact to regulate dna damage-induced apoptosis. multiple isolates of gadd34 and the related murine protein myd116 were identified as binding partners of lyn in a yeast two-hybrid ...	2001	11517336
characterization of a saccharomyces cerevisiae mutant with oversecretion phenotype.	an oversecreting mutant of saccharomyces cerevisiae was obtained from about 400 meiotic segregants derived from thediploid cells made by crossing the hbsag-induced mutant ni-c with the wild-type strain sey6211. when transformed with a plasmid containing mouse alpha-amylase cdna, the mutant (ni-c-d4) exhibited an increased capacity (up to 13-fold) for the secretion of mouse alpha-amylase, higher than the parental strains and other standard wild-type strains. it was also shown that alpha-amylase s ...	2001	11525619
norc--a novel member of mammalian iswi-containing chromatin remodeling machines.	transcription by rna polymerase i on nucleosomal templates requires binding of the transcription termination factor ttf-i to a cognate site 160 bp upstream of the transcription start site. binding of ttf-i is accompanied by changes in the chromatin architecture which suggests that ttf-i recruits a remodeling activity to the rdna promoter. we have cloned a cdna that encodes tip5 (ttf-i-interacting protein 5), a 205 kda protein that shares a number of important protein domains with wstf (williams ...	2001	11532953
cloning and characterization of hmap126, a new member of mitotic spindle-associated proteins.	one novel gene product, hmap126, was demonstrated to interact with p29 in the yeast two-hybrid assay. the full-length cdna of hmap126 has been obtained and encodes a protein of 1120 amino acids. multiple tissue northern blot analysis showed that hmap126 was abundantly expressed in the testis. polyclonal antiserum against hmap126 was raised and affinity-purification of anti-hmap126 antibodies was performed. the subcellular distribution of hmap126 was localized to the mitotic spindle. furthermore, ...	2001	11549262
functional interaction of jun and homeodomain proteins.	we have used the yeast two-hybrid system to identify proteins that interact with the n-terminal region of c-jun, which is known to be involved in regulatory interactions. one of the proteins identified is the homeodomain-containing protein hex. the hex homeodomain is sufficient for interaction; moreover, the homeodomains of several other transcription factors also interact. mutations within helix iii of the hex homeodomain greatly reduce the interaction. in vitro, c-jun/c-fos, junb/c-fos, and ju ...	2001	11551904
connexin45 directly binds to zo-1 and localizes to the tight junction region in epithelial mdck cells.	zonula occludens protein 1 (zo-1) is a cytosolic tight junction protein that tethers transmembrane proteins such as occludin, claudin and junctional adhesion molecule to the actin cytoskeleton. the interaction between zo-1 and claudin or junctional adhesion molecule occurs via the amino-terminal psd95/dlg/zo-1 (pdz) domains in zo-1. a yeast two-hybrid screen to search for proteins that interact with the pdz domains of zo-1 identified connexin (cx) 45. cx45 interacts with the pdz domains of zo-1 ...	2001	11557048
molecular cloning of a cdna encoding mouse dna helicase b, which has homology to escherichia coli recd protein, and identification of a mutation in the dna helicase b from tsft848 temperature-sensitive dna replication mutant cells.	dna helicase b is a major dna helicase in mouse fm3a cells. a temperature-sensitive mutant defective in dna replication, tsft848, isolated from fm3a cells, has a heat-labile dna helicase b. in this study, we purified dna helicase b from mouse fm3a cells and determined partial amino acid sequences of the purified protein. by using a dna probe synthesized according to one of the partial amino acid sequences, a cdna was isolated, which encoded a 121.5 kda protein containing seven conserved motifs f ...	2001	11557815
msy2 and msy4 bind a conserved sequence in the 3' untranslated region of protamine 1 mrna in vitro and in vivo.	y-box proteins are major constituents of ribonucleoprotein particles (rnps) which contain translationally silent mrnas in gametic cells. we have recently shown that a sequence-specific rna binding activity present in spermatogenic cells contains the two y-box proteins msy2 and msy4. we show here that msy2 and msy4 bind a sequence, 5'-uccauca-3', present in the 3' untranslated region of the translationally repressed protamine 1 (prm1) mrna. using pre- and post-rnase t1-digested substrate rnas, it ...	2001	11564883
murine models for down syndrome.	the availability of the recently published dna sequence of human chromosome 21 (hsa21) is a landmark contribution that will have an immediate impact on the study of the role of specific genes to down syndrome (ds). trisomy 21 or ds is the only autosomal aneuploidy that is not lethal in the fetal or early postnatal period. ds phenotypes show variable penetrance, affecting many different organs, including brain (mental retardation, early onset of alzheimer's disease, ad), muscle (hypotonia), skele ...	2001	11566219
molecular characterization of the breakpoint region associated with a constitutional t(2;15)(q34;q26) in a patient with multiple myeloma.	the molecular cloning of the translocation breakpoints from constitutional chromosome rearrangements in patients with a variety of human diseases has consistently led to the isolation of genes important in the development of the phenotype. we used fluorescence in situ hybridization (fish) to analyze the breakpoint region of a constitutional chromosome translocation involving regions 2q34 and 15q26 observed in a patient with multiple myeloma (mm), a malignant disorder of plasma cells secreting mo ...	2001	11566340
characterization of the human beta -glucan receptor and its alternatively spliced isoforms.	beta-1,3-d-glucans are biological response modifiers with potent effects on the immune system. a number of receptors are thought to play a role in mediating these responses, including murine dectin-1, which we recently identified as a beta-glucan receptor. in this study we describe the characterization of the human homologue of this receptor and show that it is structurally and functionally similar to the mouse receptor. the human beta-glucan receptor is a type ii transmembrane receptor with a s ...	2001	11567029
prpc directly interacts with proteins involved in signaling pathways.	the cellular prion protein (prp(c)) is a conserved glycoprotein predominantly expressed in neuronal cells. its purpose in living cells is still enigmatic. to elucidate on its cellular function, we performed a yeast two-hybrid screen for interactors. we used murine prp(c) (amino acids 23-231) as bait to search a mouse brain cdna expression library. several interaction partners were identified. three of them with a high homology to known sequences were further characterized. these candidates were ...	2001	11571277
pnrc2 is a 16 kda coactivator that interacts with nuclear receptors through an sh3-binding motif.	pnrc2 (proline-rich nuclear receptor co-regulatory protein 2) was identified using mouse steroidogenic factor 1 (sf1) as bait in a yeast two-hybrid screening of a human mammary gland cdna expression library. pnrc2 is an unusual coactivator in that it is the smallest coactivator identified so far, with a molecular weight of 16 kda, and interacts with nuclear receptors using a proline-rich sequence. in yeast two-hybrid assays pnrc2 interacted with orphan receptors sf1 and estrogen receptor-related ...	2001	11574675
cloning and characterization of gonadotropin-inducible ovarian transcription factors (giot1 and -2) that are novel members of the (cys)(2)-(his)(2)-type zinc finger protein family.	gonadotropins are essential for ovarian follicular development and differentiation. to identify genes that are rapidly induced by gonadotropin in the immature rat ovary, ovarian genes were screened by a subtraction cloning procedure. cdna clones encoding novel members of the (cys)(2)-(his)(2)-type zinc finger protein family giot1 and -2 (gonadotropin-inducible transcription factor 1 and 2), were identified. two isoforms of giot2 (giot2 alpha and 2 beta), which are probably produced by alternativ ...	2001	11579202