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Vascular endothelial cadherin (VE-cadherin) is located strictly at endothelial junctions and appears to be a major adhesive component of cell to cell contacts. Genomic clones spanning 36 kb and encompassing the mouse VE-cadherin gene have been isolated and characterized. The gene is composed of 12 exons that exhibit conventional vertebrate splicing. The first exon is entirely untranslated, and both...
We have isolated a novel human cDNA clone that encodes a protein with 80% identity in amino acid sequence to DROER, the enhancer of the rudimentary gene inDrosophila melanogaster.The rudimentary gene product is thought to have significant enzymatic functions in the pyrimidine metabolic pathway, as well as a critical role in development of the wings. The human cDNA, termed ERH, consists of 797 nucleotides,...
By comparing lists of 3′-directed partial cDNA sequences (gene signatures) randomly collected from various tissues, genes unique to each tissue can be identified. A full-size cDNA clone, corresponding to one such tissue-specific gene signature that recurred only in a retina library, was isolated and analyzed. This clone encoded 83 amino acids highly homologous to the bovine blue cone cGMP phosphodiesterase...
The physical locations on human metaphase chromosomes of over 950 yeast artificial chromosome (YAC) clones from the CEPH library have been determined by fluorescencein situhybridization and described as fractional chromosome length relative to the terminus of the short arm. Collectively, these clones contain approximately 1 billion basepairs of human DNA, about one-third of the human genome. In addition,...
Using a polymerase chain reaction (PCR)-based strategy that distinguishes functional intron-containing genes from pseudogenes, the chromosomal location of the human intron-containing L35a ribosomal protein gene (rpL35a, HGMW-approved symbol RPL35A) was previously deduced to be on chromosome 18 using DNAs from a panel of human–rodent somatic cell hybrids. The inability to detect rpL35a in a human–hamster...
TheMYCNproto-oncogene is amplified in 25% of neuroblastomas, and amplification is strongly correlated with advanced disease stage and with rapid tumor progression. We have generated a high-resolution restriction map of nearly 500 kb spanning theMYCNlocus by subcloning yeast artificial chromosomes into cosmids. Cosmids plus additional amplified probes were hybridized to DNA from 33MYCNamplified neuroblastomas,...
Small cell lung cancer (SCLC) has been correlated with a deletion in the short arm of chromosome 3, with the region 3p21 being lost from one homolog in almost all cases. Two SCLC cell lines have homozygous deletions in 3p21, and these deletions overlap with a fragment of chromosome 3 that has tumor suppression activityin vivo.We have isolated some cDNA clones from this region that are homologous to...
The high-affinity receptor for interleukin-11 (IL-11) is composed of two subunits, IL-11 receptor α chain (IL-11Rα) and gp130, the common subunit of the interleukin-6 (IL-6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor, and oncostatin M receptors. The IL-11 receptor-specific α chain shares homologies with the α chain of the CNTF and IL-6 receptors. We isolated and characterized...
Linkage maps of rat chromosomes 15, 16, 17, 19, and X were constructed by multipoint genetic linkage analysis of 22 polymorphic markers in 40 F2progeny of Fischer (F344/N) and Lewis (LEW/N) inbred rat strains. These markers are associated with eight genes (angiotensin receptor A, M3 muscarinic acetylcholine receptor, heme oxygenase, endothelin receptor A, haptoglobin, tyrosine aminotransferase, phosphoribosylpyrophosphate...
Three human chromosome 2-specific clone libraries were constructed and characterized. Chromosome 2-specific cosmid and fosmid clone libraries were constructed using flow-sorted DNA from the monochromosomal hybrid cell line GM10826. The cosmid and fosmid libraries consist of 38,496 and 26,400 arrayed clones, respectively, with an average size of 40 kb. Colony hybridization of a representative number...
The gene (POLR2L) encoding a 7.6-kDa subunit (hRPB7.6) of human RNA polymerase has been cloned. It comprises two exons, 116 and 227 bp, respectively, interspaced with an intron of about 2.1 kb. This gene, whose localization has been assigned to the short arm of chromosome 11 (position 11p15), is transcribed in HeLa cells as one major messenger RNA, which encodes a 67-residue polypeptide (7645 Da)...
A glutamate binding subunit gene, GRINA, has been previously mapped to human chromosome 8. A form of inherited epilepsy, benign familial neonatal convulsions (BFNC), has also been localized to chromosome 8. As NMDA receptors have been implicated in the pathogenesis of epilepsy, we were interested in determining whether GRINA mapped to the same region of chromosome 8 as BFNC. Fluorescencein situhybridization...
We have isolated a human cDNA encoding a protein of 334 amino acids that shows 96% identity in amino acid sequence to murine cytosolic malate dehydrogenase. Heart and skeletal muscle expressed this gene most highly among the adult human tissues examined by Northern blot analysis. By fluorescencein situhybridization, we determined its chromosomal location to be 2p15.
Two thousand nine hundred and thirty-one tri- and tetranucleotide short tandem repeat polymorphisms (STRPs) developed by the Cooperative Human Linkage Center were assigned to chromosomes using the NIGMS somatic cell hybrid mapping panel 2 and an efficient pooling strategy. Approximately 82% of all STRPs tested were assigned by this method, with 96.7% accuracy. Many of the single chromosome cell lines...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a nonarteriosclerotic, nonamyloid angiopathy characterized by recurrent subcortical ischemic strokes starting in midadulthood and frequently leading to pseudobulbar palsy and dementia. The disease locus has recently been mapped to chromosome 19q12. We have identified a chromosomal crossover in a...
GD3 synthase (CMP-NeuAc:NeuAcα2-3Galβ1-4Glc- β1-1′Cer α2,8-sialyltransferase) is a member of the sialyltransferase family, whose members are characterized by having the sialyl motif and a key regulatory enzyme that controls the ganglioside biosynthesis pathway. The chromosomal location of the GD3 synthase gene (SIAT8) was determined in human and mouse using fluorescencein situhybridization and interspecific...
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