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Sodium butyrate (NaB) was shown to induce growth inhibition and apoptosis in a human pancreatic cancer cell line (AsPC-1). To identify the genes that are differentially regulated by NaB, we generated subtracted EST libraries highly enriched for up- or down-regulated transcripts using the suppression subtraction hybridization technique. One of the ESTs identified in the down-regulated library showed...
The mousehigh growth(hg) gene was identified in a selection experiment for rapid growth. It produces a 30–50% increase in weight gain of homozygous individuals without resulting in obesity. Recently,hgwas mapped to a deletion around markerD10Mit69.Here we report a map of yeast artificial chromosome and bacterial artificial chromosome clones spanning the entire region deleted in high-growth mice. The...
We have identified and characterized a cDNA encoding a novel FK506-binding protein (FKBP), named FKBP23, from mouse heart by the signal sequence trap method. The deduced amino acid sequence has significant homology to other FKBP family members around the peptidylprolylcis-trans-isomerase motifs. FKBP23 also has two Ca 2+ -binding (EF-hand) motifs, and purified FKBP23 protein was shown to have...
Bfp (brain finger protein) is a member of the RING finger protein family, which is highly expressed in the brain. We have previously shown that one copy of the human bfp gene, mapped at 17p11.2, was actually deleted in six of six Smith–Magenis syndrome (SMS) patients. Now we have isolated the mouse bfp cDNA. Usingin situhybridization and immunohistochemistry, the distribution of mouse bfp mRNA and...
Similar toDrosophila,murinePolycomb-group (PcG) genes regulate anterior–posterior patterning of segmented axial structures by transcriptional repression of homeotic gene expression. The murinePcGgeneeed(embryonic ectoderm development) encodes a 441-amino-acid protein with five WD motifs which, except for the amino terminus, is highly homologous toDrosophilaESC (Extra Sex Combs). Here, sequence and...
Kenny–Caffey syndrome (KCS) is an osteosclerotic bone dysplasia with associated hypocalcemia and ocular abnormalities. Both autosomal dominant (MIM127000) and autosomal recessive (MIM244460) inheritance patterns have been described. Using eight consanguineous Kuwaiti kindreds, a genome-wide search for linkage to the gene causing the autosomal recessive form of KCS was performed with polymorphic short...
In this report, we have identified, sequenced, and characterized the expression pattern of a novel human gene, mammaglobin B. Mammaglobin B (MGB2) is highly homologous to mammaglobin (MGB1), a previously characterized human gene whose expression is limited to the mammary epithelium and frequently up-regulated in human breast cancer cells. Based upon amino acid sequence similarities, both mammaglobin...
The cDNA and the gene of human aquaporin8 (AQP8) were cloned from human testis cDNA and a genomic library, respectively. The AQP8 cDNA encodes 261 amino acids. The identity of the amino acid sequence to other aquaporins is highest with a plant water channel, γ-TIP (40.4%), while AQP2 and AQP3 are 28.9 and 29.5% identical to human AQP8, respectively. The human AQP8 is only 74.9% identical to rat AQP8...
Whole-genome association studies using single-nucleotide polymorphisms (SNPs) are the proposed method of choice for the identification of loci associated with complex diseases. In this report, we address the feasibility of generating high-density SNP maps (with <100-kb spacing). As a pilot study, we concentrated on a 4-Mb region around the human APOE locus on chromosome 19. We compared the efficiency...
We have cloned a novel gene encoding a human ubiquitin-specific protease (USP1). The product, which consists of 785 amino acids with a deduced molecular mass of 88.2 kDa, possesses His and Cys domains that are highly conserved in all members of the ubiquitin-specific processing (UBP) family of proteases. Recombinant USP1 protein showed genuine UBP activity, correctly cleaving Ub-β-galactosidase to...
The glycoprotein macrosialin is expressed specifically in murine monocytes and macrophages. In the murine genome the macrosialin gene lies 877 bp 3′ of the ubiquitously expressed elongation initiation factor 4A1 (eIF-4AI) gene on chromosome 11. The macrosialin gene promoter directs high-level expression in transiently transfected murine macrophage cell lines, but significant levels of expression are...
We recently described a novel gene, melastatin, whose expression is inversely correlated with melanoma aggressiveness. Chromosomal localization of this gene places it on mouse chromosome 7 and in the 15q13–q14 region of the human genome. Although expression patterns and chromosomal localization in the mouse are consistent with involvement of melastatin mutations in the mouse ruby-eye-2 defect, congenic...
We report the characterization of a new gene mapped at chromosome band 13q14.3 telomeric to the retinoblastoma gene. This gene, designated CHC1L (for chromosome condensation 1-like), is composed of 14 exons spanning 30 kb of genomic DNA and encodes a ubiquitously expressed 3-kb mRNA. The N-terminal half of the deduced amino acid sequence shows strong homology with the seven tandem repeat structure...
We have isolated cDNA clones for a novel human protein, TRPC7 (transient receptor potential-related channels), which consists of 1503 amino acid residues from the fetal brain and caudate nucleus cDNA libraries. Northern blot analysis indicated that the TRPC7 gene is highly expressed as a 6.5-kb transcript in brain. The TRPC7 protein has significant homology withCaenorhabditis eleganshypothetical proteins...
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