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Two isoforms of the human ribosomal protein S4 gene,RPS4XandRPS4Y,are located on the X and Y chromosomes. It has been postulated that haploinsufficiency of these genes may contribute to Turner syndrome. We show here that several animal species that show the Turner-like phenotype on monosomy X have no Y-linkedRps4homolog. There may be another gene(s) that contributes to abnormal phenotypes of monosomy...
The gene for X-linked cleft palate (CPX) has previously been mapped in an Icelandic kindred between the unordered proximal markers DXS1002/DXS349/DXS95 and the distal marker DXYS1X, which maps to the proximal end of the X–Y homology region in Xq21.3. Using six sequence-tagged sites (STSs) within the region, a total of 91 yeast artificial chromosome (YAC) clones were isolated and overlapped in a single...
ORC2 is a subunit of the origin recognition complex in yeast and has been implicated in the initiation of DNA replication and transcriptional silencing. We have isolated mouse and human cDNA clones encoding proteins with 47.9 and 46.3% similarity, respectively, to yeast ORC2. This degree of similarity and the alignment of sequences suggest that these clones may represent a mammalian ORC2 homologue...
The p120 cas gene encodes a protein tyrosine kinase substrate that associates with the cell–cell adhesion protein complex containing E-cadherin and its cytoplasmic cofactors α-catenin, β-catenin, and plakoglobin. Like other components of the cadherin/catenin complex, defects in p120 cas may contribute to cell malignancy. We have determined the chromosomal location of the p120 cas...
A novel X-linked gene, DXS8237E, was isolated from human fetal brain cDNA, and its 3′ end was mapped to within 20 kb upstream of UBE1 in Xp11.23. A 1.3-kb cDNA for DXS8237E detects homologous sequences in other mammals and a 3-kb mRNA that is widely expressed in human cell lines and mouse tissues. Sequence analysis indicated that the 1.3-kb cDNA contains the 3′ end of the DXS8237E gene, but the sequence...
The transcriptional silencing of the human gene, fragile X mental retardation 1 (FMR1), is due to abnormal methylation in response to an expanded 5′-untranslated CGG trinucleotide repeat and accounts for most cases of fragile X syndrome, a frequent inherited form of mental retardation. Although the encoded fragile X mental retardation protein (FMRP) is known to have properties of a RNA-binding protein,...
Branchio–oto–renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial abnormality, hearing loss, and renal anomalies. Recently, the disease gene has been localized to chromosome 8q. Here, we report genetic studies that further refine the disease gene region to a smaller interval and identify several YACs from the critical region. We studied two large, clinically well-characterized...
The eukaryotic genome contains a large family of ATPases in which each member has at least one highly conserved domain of approximately 200 amino acids with an ATP binding motif (the “AAA” domain). AAA ATPases play diverse roles in the cell and are of considerable interest to researchers investigating a number of different phenomena, including control of the cell cycle. We have characterized the mouseP26s4AAA...
Defensins, a family of antimicrobial peptides isolated from several mammalian species, have a proposed functional role in innate host defense. In humans, certain defensin genes are expressed in phagocytic cells of hematopoietic origin, while others are expressed in Paneth cells, epithelial cells of the small intestine. In this study, we determined the chromosomal localization of the human defensin...
TheSaccharomyces cerevisiae RAD23gene is involved in nucleotide excision repair (NER). Two human homologs ofRAD23, HHR23AandHHR23B(HGMW-approved symbols RAD23A and RAD23B), were previously isolated. The HHR23B protein is complexed with the protein defective in the cancer-prone repair syndrome xeroderma pigmentosum, complementation group C, and is specifically involved in the global genome NER subpathway...
We have cloned and sequenced the human B1 bradykinin receptor gene (BDKRB1), which contains an uninterrupted coding exon. A putative promoter was identified by linking various lengths of the 5′-flanking region of the B1 receptor gene coding sequence to a CAT reporter and assaying for CAT activity. Deletion analysis showed that a 300-bp fragment in the promoter region is sufficient to direct the synthesis...
The receptor tyrosine kinaseDtk/Tyro 3/Sky/rse/brt/tifis a member of a new subfamily of receptors that also includesAxl/Ufo/ArkandEyk/Mer.These receptors are characterized by the presence of two immunoglobulin-like loops and two fibronectin type III repeats in their extracellular domains. The structure of the murineDtkgene has been determined. The gene consists of 21 exons that are distributed over...
Using DNA from sorted human chromosomes and two-dimensional gel electrophoresis, we assigned 2295NotI sites, 43% of the total, to specific chromosomes and designated the procedure CA-RLGS (chromosome-assigned restriction landmark genomic scanning). Although theNotI enzyme is sensitive to DNA methylation, our results suggested that the majority of the spots did not seem to be affected by this modification...
Single-pass DNA sequencing of cDNAs selected at random from a human mixed tissue cDNA library have generated a series of more than 2000 expressed sequence tags. One hundred twenty-eight unique cDNA fragments with little or no known protein or nucleic acid homologies have been selected for further analysis. Oligonucleotide primer pairs have been designed from the cDNAs and used in PCR amplification...
A subset of patients with rheumatoid arthritis occasionally develops skin reactions and glomerulonephritis and exhibits an increase in serum IgE concentration when treated with gold salts. Brown-Norway (BN) rats injected with aurothiopropanolsulfonate (ATPS) also manifest an autoimmune glomerulonephritis and increased serum IgE concentration, whereas Lewis (LEW) rats are resistant to complications...
TheTLEgenes are the human homologues ofDrosophila groucho,a member of theNotchsignaling pathway. This pathway controls a number of different cell-fate choices in invertebrates and vertebrates. We are interested in investigating the functions of theTLEgene family during epithelial determination and carcinogenesis. We show that expression of individualTLEgenes correlates with immature epithelial cells...
The human gene coding for the interleukin-11 receptor (IL11RA) was cloned and its structure analyzed. The gene is composed of 13 exons comprising nearly 10 kb of DNA that was completely sequenced. The intron–exon boundaries were determined based on the mouse Etl2 and interleukin-11 receptor cDNAs that were recently cloned. The protein sequence predicted by the human gene was over 83% identical with...
Physical maps of the human genome are being constructed by many groups using a mapping strategy that relies on the development of sequence-tagged sites (STSs). Thousands of physically mapped STSs, representing hundreds of kilobases (kb) of unique human DNA sequence, have been generated by these efforts. Since sequence variations are found every 1–2 kb in the genome, it is possible to extract additional...
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