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Human p55 is an abundantly palmitoylated phosphoprotein of the erythroid membrane. It is the prototype of a newly discovered family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologues). The MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. Here, we report the complete intron–exon map of...
The LIM domain is present in a wide variety of proteins with diverse functions and exhibits characteristic arrangements of Cys and His residues with a novel zinc-binding motif. LIM domain proteins have been implicated in development, cell regulation, and cell structure. A LIM domain protein was identified by screening a human cDNA library with rat cysteine-rich intestinal protein (CRIP) as a probe,...
Recent studies have designated endothelins (ETs) as morphogenetic factors in embryonic development. In the present study, we cloned and characterized the mouse preproendothelin-1 (preproET-1) gene (Edn1) and examined its expression in reference to development.Edn1comprises five exons, and the open reading frame encodes the 202-amino-acid preproET-1. The sequences and structural organization ofEdn1are...
A full-length cDNA encoding mouse annexin V (ANX5) was cloned, sequenced, and utilized for chromosomal mapping. The gene lies on mouse chromosome 3 in close linkage with the fibroblast growth factor 2 (basic) gene and is syntenic with other genes known to have orthologous counterparts on human chromosome 4q. The open reading frame encoded a protein of 319 amino acids (aa), with 92–96% identity to...
The Na/H exchanger genesSlc9a1, Slc9a2, Slc9a3,andSlc9a4have been mapped in the mouse using an interspecific backcross panel. These loci map to previously defined homologous regions between human and mouse chromosomes and provide additional information regarding human/mouse comparative mapping.
A search for new genes was performed in a 220-kb region around the tumor necrosis factor gene cluster in the human central major histocompatibility complex region using a cDNA hybridization and selection method. In addition to the seven known genes in this region, we identified a new gene that is preferentially expressed in spleen. We also identified two pseudogenes that have high degrees of homology...
The CAMLG gene encodes a novel cyclophilin B-binding protein called calcium-modulating cyclophilin ligand, which appears to be involved in the regulation of calcium signaling in T lymphocytes and other cells. The murine homolog,Caml,was localized by interspecific backcross analysis to the middle of chromosome 13. By fluorescencein situhybridization, this gene was localized to human chromosome 5 in...
A simple and rapid strategy for restriction mapping based on sequence-specific triple-helix affinity capture (TAC) was developed. The strategy was applied to the analysis of cosmid clones by the construction of a new cosmid vector, ScosTriplex-II, containing two different triple-helix-forming sequences flanking the cloning site of the original SuperCos-1 cosmid vector. For restriction mapping, the...
TheADH7gene encoding human Class IV (σ) alcohol dehydrogenase (ADH) was cloned from a Caucasian genomic DNA library and characterized. It has nine exons and eight introns that span about 22 kb, and its intron insertion is identical to that of the otherADHgenes (ADH1toADH5). The nucleotide sequences of the exons encoding 374 amino acids are identical to the previously reported cDNA sequence of σ ADH...
The human gene (PCOLCE) for the C-proteinase enhancer, a glycoprotein that enhances the enzymatic activity that cleaves the type I procollagen C-propeptide, was previously mapped to the same cytogenetic region (7q21.3–q22) asCOL1A2,the type I collagen pro-α2 chain gene. The apparent proximity of these two genes, whose products interact, might have reflected some mechanism for coregulation of expression...
Metabotropic glutamate receptors (GRMs) are neurotransmitter receptors that respond to glutamate stimulations by activating GTP-binding proteins and modulating second-messsenger cascades. Eight related GRMs have been identified to date. In this study, we have mappedGRM3andGRM8to human chromosome 7q21.1–q21.2 and 7q31.3–q32.1, respectively, using somatic cell hybrid and fluorescencein situhybridization...
Transcription factors are a major determinant of developmental fate. The chromosomal localization of the genes encoding these proteins provides important information that can link them to known genetic abnormalities. Here, we report the mapping of the mouse gene for transcription factor AP-2, a protein that has been implicated in human oncogenesis. Using FISH, we have mapped the gene encoding the...
Genetic linkage analysis has previously mapped the locus for the autosomal dominant disorder branchio-oto-renal syndrome (BOR) to the pericentric region of chromosome 8q. A YAC contig spanning the putative BOR region, from D8S543 to D8S541, was constructed and confirmed by sequence-tagged site content mapping using microsatellite markers and by DNA hybridization analysis. YACs spanning the BOR interval...
The discs-large family is a collection of proteins that have a common structural organization and are thought to be involved in signal transduction and mediating protein–protein interactions at the cytoplasmic surface of the cell membrane. The defining member of this group of proteins is the gene product of the Drosophila lethal (1) discs large (dlg) 1 locus, which was originally identified by the...
The U7 snRNA, together with both common and unique snRNP proteins, forms the U7 snRNP particle. This particle is a major component of the 3′ processing machinery that converts histone pre-mRNA into mature mRNA in the eukaryotic nucleus. The genes for many snRNAs are present in multiple copies and often have many pseudogenes. Southern blot experiments using U7 oligonucleotide and gene probes have identified...
The human insulin-like growth factor type 2 receptor gene (IGF2R) is biallelically expressed in a variety of fetal and adult tissues. In contrast, the imprinted mouseIgf2rgene is expressed exclusively from the maternally inherited chromosome. The mouse gene contains two CpG islands that are methylated in a parent-specific manner. Methylation of the CpG island in the promoter region occurs on the repressed...
PTPN13 is a protein tyrosine phosphatase that associates with the C-terminal negative regulatory domain in the Fas (APO-1/CD95) receptor. The PTPN13 protein contains six GLGF repeats that have been found in the rat postsynaptic density protein (PSD-95) and theDrosophilatumor suppressor protein, lethal-(1)-disc-large-1 (dlg-1). The localization of the PTPN13 gene to human chromosome 4q21.3 was determined...
Familial arrhythmogenic right ventricular cardiomyopathy or dysplasia (ARVD) is an idiopathic heart muscle disease with an autosomal-dominant pattern of transmission, characterized by fibro-fatty replacement of the right ventricular myocardium and ventricular arrhythmias. Recently, linkage to the chromosome 14q23–q24 (locus D14S42) has been reported in two families. In the present study, three unrelated...
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