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The intron-containing gene for human ribosomal protein RPL23A has been cloned, sequenced, and localized. The gene is approximately 4.0 kb in length and contains five exons and four introns. All splice sites exactly match the AG/GT consensus rule. The transcript is about 0.6 kb and is detected in all tissues examined. In adult tissues, the RPL23A transcript is dramatically more abundant in pancreas,...
Ppyr1, Npy5r,andNpy6r,the genes encoding mouse type 4, type 5, and type 6 members of the neuropeptide Y receptor family, have been mapped by interspecific backcross analysis to conserved linkage groups on mouse Chr 14, Chr 8, and Chr 18, respectively. The human genes,PPYR1andNPY5R,have been localized to chromosomes 10q and 4q, respectively, by analysis of a panel of rodent–human somatic cell hybrids...
TheCaenorhabditis elegansgenome sequencing project has completed over half of this nematode's 100-Mb genome. Proteins predicted in the finished sequence have been compiled and released in the database Wormpep. Presented here is a comprehensive analysis of protein domain families in Wormpep 11, which comprises 7299 proteins. The relative abundance of common protein domain families was counted by comparing...
Loci conferring susceptibility to schizophrenia, coeliac disease, and orofacial clefting have been assigned to the 6p23–p25 region of human chromosome 6. To facilitate the identification of candidate genes we have sublocalized and ordered 39 ESTs assigned to this interval by radiation hybrid mapping. This was achieved by generating PAC contigs containing the ESTs, genetic markers, and random STSs...
The most frequent type of complete hydatidiform mole is a 46, XX homozygote formed by the fertilization of an empty ovum by a single haploid sperm that later duplicates its chromosomes to give a diploid tumor. The homozygous nature of these complete hydatidiform moles makes them unique resources for human genome studies. They can serve as homozygous controls in the development of single nucleotide...
Transforming growth factor-β (TGFβ) regulates cell cycle progression by a unique signaling mechanism that involves its binding to the type II (TβR-II) TGFβ receptor and activation of type I (TβR-I). Both are transmembrane serine-threonine receptor kinases. As various types of human tumor cells are often refractory to TGFβ-mediated cell cycle arrest, it is likely that the TβR-I receptor is inactivated...
We have identified a novel human gene on chromosome 10q24 located contiguously to the 3′ end of theNFKB2/lyt-10gene in a tail to tail arrangement. We describe here a cDNA of 4307 bp, isolated from an adult human brain cDNA library, which contains an open reading frame encoding a putative protein of 645 amino acids with a predicted molecular weight of 71 kDa. Database homology searches indicate that...
The genes for type XIII collagen (COL13A1) and prolyl 4-hydroxylase (P4HA) were previously assigned to human chromosome 10q by radioactivein situhybridization. Here we have applied fluorescencein situhybridization combined with targets representing different levels of resolution to determine, first, the order of these genes along chromosome 10; second, their transcriptional orientation; and third,...
The genomic structure, transcription start site, polyadenylation signals, and promoter of the human Na+/myo-inositol cotransporter (SLC5A3) gene have been elucidated through cloning, sequencing, mRNA analyses, and reporter gene assays. The gene consists of one promoter and two exons spanning approximately 26 kb. Exon 1 contains 175 bp of 5′ untranslated sequence and is 15 kb upstream of exon 2. The...
The recent cloning of a growth hormone secretagogue receptor (GHS-R) from human pituitary gland and brain identified a third G protein-coupled receptor (GPC-R) involved in the control of growth hormone release. The nucleotide sequence of the GHS-R is most closely related to the neurotensin receptor-1 (NT-R1) (35% overall protein identity). Two human GPC-Rs related to both the type 1a GHS-R and NT-Rs...
There is a family of genes encoding TFIIS-related proteins in human cells. We have focused upon the genomic organization of one family member expressed primarily in the testis. This gene encodes a transcription elongation factor similar to but distinct from that encoded by a previously reported TFIIS gene. Also in contrast to the previously reported TFIIS gene, the testis gene contains introns. All...
Mouse genomic DNA harboring the full coding sequence of cyclin G1 was cloned and analyzed. The locations of five coding exons and the intron–exon boundary sequences were found to be conserved between the mouse and the human genes. Two putative binding sites for thep53tumor suppressor gene product were found around the first exon: one was located in the 5′ regulatory region, and the other was in the...
The transfer of lipids in aqueous environments such as serum has been attributed to a recently characterized class of proteins. Abnormal regulation of serum lipids by these proteins is thought to be a key event in the pathophysiology of cardiovascular diseases. Lipopolysaccharide (endotoxin) binding protein (LBP) was identified by virtue of its ability to bind bacterial lipid A. We have analyzed the...
We report on the analysis of a human gene homologous to the rat ventral prostate.1 protein (RVP.1), which is transcriptionally induced in the regressing rat prostate after castration. EST database searching and Northern blotting reveal that this is one of at least four different members of a gene family in the human genome that produce transcripts of 3.4, 2.4, 1.9, and 1.2 kb, expressed in a wide...
In a previous large-scale analysis of gene expression in pancreatic cancer using gridded arrays of cDNA libraries and differential hybridizations, a gene that was a homolog to human mss4 was identified. Mss4 is a guanine-nucleotide-exchange factor for the Sec4/Ypt1/Rab family of small GTP-binding proteins involved in the regulation of intracellular vesicular transport. By fluorescencein situhybridization...
Genomic and cDNA clones encoding mouse inhibitor of apoptosis protein 1 and 2 (Miap1andMiap2) were isolated and characterized. The genes encoding the 602-amino-acid MIAP1 protein and the 612-amino-acid MIAP2 protein are contained within a 57-kb locus in a tandem head-to-tail arrangement. TheMiap1gene consists of nine exons spanning 24 kb, and theMiap2gene consists of seven exons spanning 21 kb. Fluorescencein...
We recently identified the winged-helix/fork head transcription factor Trident in mouse and described its expression in cycling cells. Here we report the isolation and characterization of the humanTRIDENT(HGMW-approved symbolFKHL16) cDNA and gene. Homology between the human and the mouse Trident proteins was 79%. The gene consists of 10 exons and is located on chromosome 12 band p13. The winged-helix...
Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo,...
The gene content of the MHC class I telomerically adjacent region, in linkage disequilibrium with hereditary hemochromatosis, has not been well characterized yet. In the present work, we established three bacterial clone contigs, including mainly P1-derived artificial chromosomes. These contigs cover 89% of the 1.2-Mb 6p-subtelomeric region encompassing locusD6S105.Terminal exon trapping was applied...
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