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We report the cloning and characterization of a murine epidermal differentiation gene, repetin (Rptn), exhibiting striking similarity to the genes of the intermediate filament-associated proteins profilaggrin and trichohyalin. The repetin gene consists of three exons and two introns. The first exon is short and untranslated. The deduced amino acid sequence distributed between exons II and III contains...
The humanSP100gene encodes an autoantigen that colocalizes with two other proteins, PML and NDP52, in distinct nuclear domains, called “nuclear dots” (NDs). NDs do not overlap with other known subnuclear structures, and their function is still unknown. Patients suffering from the autoimmune disease primary biliary cirrhosis often produce antibodies against the SP100 protein. The present study describes...
DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and isolated and familial forms of conotruncal cardiac defects have been associated with deletions of chromosomal region 22q11.2. This report describes the identification, cloning, and characterization of the humanTBX1gene, which maps to the center of the DiGeorge chromosomal region. Further, we have extended the mouse...
The aquaporins (AQPs) are a family of water-transporting proteins that facilitate osmotically driven water movement across cell plasma membranes. Among the seven human aquaporins cloned to date (AQPs 0–6), genes encoding the four most closely related aquaporins (AQP0, AQP2, AQP5, and AQP6) have been mapped to chromosome band 12q13, suggesting an aquaporin family gene cluster at this locus. To construct...
We have constructed a 1-Mb contig in human chromosomal band 11p15.5, a region implicated in the etiology of several embryonal tumors, including Wilms tumor, and in Beckwith–Wiedemann syndrome. Cosmid, P1, PAC, and BAC clones were characterized byNotI/SalI digestion and hybridized to a variety of probes to generate a detailed physical map that extends from D11S517 to L23MRP. Included in the map are...
The imprinted mouse insulin-like growth factor type 2 receptor (Igf2r) maps to the middle of a gene-rich region in band A2 of mouse chromosome 17. The t Lub2 chromosome 17 variant contains a small deletion that removes at least seven genes including Igf2r. We have constructed a YAC contig spanning the entire t Lub2 deletion and created a restriction map that covers 700 kb. The position,...
Notch proteins are a family of closely related transmembrane receptors proven to be instrumental in cell fate decisions. Recently, Notch ligands Delta and Jagged have been identified inDrosophilaand rat, respectively. We have isolated the human homolog of the ratJagged1gene,JAG1,from a CpG island in a YAC clone covering the Alagille syndrome critical region at chromosome 20p12 (tel–SNAP–D20S186–cen)...
High-molecular-weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. The ov-serpins are a subset of the serpin superfamily and are characterized by their high degree of homology to chicken ovalbumin, the lack...
Uroguanylin, a member of the guanylin peptide family, is a novel peptide regulator in intestinal salt and water transport. We isolated the gene for uroguanylin from a human genomic library and determined its structure. This gene consists of three exons and two introns within an overall length of 2.5 kb. The 5′ flanking region has TATA and CAAT boxes. The gene also has multiple binding sites for promoter-specific...
Radiation hybrid mapping has become an established tool for building physical maps. It represents a powerful way of constructing YAC contigs and high-resolution maps for positional cloning experiments. Ideally, radiation hybrids should not only provide support for the true order of the markers, but also accurate estimates of the physical distances between them. Statistical analysis of radiation hybrids...
The inheritance of obesity has been analyzed in an intercross between the mouse strains AKR/J and C57L/J. Two novel obesity quantitative trait loci (QTLs) have been identified using the strategy of selective DNA pooling. One QTL affecting adiposity,Obq3,was mapped to a 39-cM segment near the middle of Chromosome 2, with a peak lod score (5.1) just distal to theD2Mit15locus. The AKR/JObq3allele confers...
Pleomorphic adenomas are benign epithelial tumors originating from the major and minor salivary glands. Extensive cytogenetic studies have demonstrated that they frequently show chromosome abnormalities involving chromosome 8, with consistent breakpoints at 8q12. In previous studies, we have shown that these breakpoints are located in a 9-cM interval betweenMOS/D8S285 and D8S260. Here, we describe...
The murine B-lymphocyte differentiation antigen BP-1/6C3 has been identified as glutamyl aminopeptidase (EAP), the gene symbol for which isENPEP.Using genomic DNA encoding for human EAP as a probe, we identified theENPEPgene location on human chromosome 4q25 by polymerase chain reaction analysis of a human/rodent somatic cell hybrid mapping panel and by fluorescencein situhybridization. Using a radiation...
Faciogenital dysplasia (FGDY; MIM 305400), or Aarskog syndrome, is an X-linked developmental disorder that adversely affects the formation of specific skeletal structures including elements of the face, the cervical vertebrae, and the distal extremities. FGD1, the gene responsible for faciogenital dysplasia, encodes a guanine nucleotide exchange factor that specifically activates Cdc42, a member of...
We cloned a novel human β-defensin gene and determined its full-length cDNA sequence. The entire gene spanned more than 7 kb and included a large 6962-bp intron. The 362-bp cDNA encoded a prepropeptide that corresponded precisely to the recently identified human β-defensin HBD-1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. By two-color fluorescencein...
We present a method for genome comparisons and high-resolution hybridization analyses using megabase stretches of known DNA sequences as a reference. The method employs two-dimensional gel electrophoresis, separating genomic segments cut with different restriction endonucleases in the first and second dimensions, to generate filters suitable for image analysis and repeated nucleic acid hybridizations...
The tandem array of color pigment genes on chromosome Xq28 contains nested exons of a distinct gene. This gene (termed TEX28) is composed of five exons that span almost the entire distance between the protein-coding regions of the color pigment genes and a transketolase-related gene. Although most of the TEX28 gene is repeated within the color pigment gene array, the exclusion of exon 1 from the array...
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