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The recessive male sterility and histoincompatibility (mshi) mutation in the mouse generates pleiotropic effects on histocompatibility and male reproduction, while female mutants appear to be reproductively normal. We have mapped themshimutation to mouse Chromosome (Chr) 10 by analysis of 126 progeny from an intraspecific backcross. Our analysis both places the male sterility and histoincompatibility...
Charcot–Marie–Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem DNA duplication in chromosome 17p11.2–p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. The 1.5-Mb CMT1A monomer unit duplicated in CMT1A and deleted in HNPP is flanked by low-copy repeats termed CMT1A-REPs. Both diseases appear to be caused by...
Sipa1,previously calledSpa1,is transcriptionally induced in the murine lymphoid cells following mitogenic stimulation and encodes a protein with a domain related to Rap1 GTPase activating protein (Rap1GAP) at the N-terminus and to PEST sequences followed by a leucine zipper motif at the C-terminus. Herein mouse genomicSipa1,which consisted of 16 exons, was cloned. Gene linkage analysis using (BXD)...
The human AE2 gene (HGMW-approved symbol SLC4A2) encompasses over 17 kb and contains 23 exons intervened by 22 introns. The size range for the exons is 90–255 bp, whereas that for the introns is 80 bp to 2.2 kb. Exon 1 consists solely of 5′-untranslated sequence, and exon 2 encodes the amino-terminal end of the antiport protein. Primer extension experiments suggest that there are multiple transcription...
To identify genes differentially expressed in association with metastatic potential of K-1735 mouse melanoma cells, the mRNA differential display method was applied to compare mRNAs from high- and low-metastatic K-1735 cells. A novel gene was identified as being expressed in high-metastatic cells but not in low-metastatic cells. Sequence analysis revealed that this gene had an open reading frame of...
The locus control region (LCR) of mammalian β-globin genes covers at least 17 kb at the 5′ end of the gene cluster and has been implicated in chromatin domain opening, enhancement, and insulation from neighboring sequences. Functional dissection of the LCR has defined the minimal cores for four of the five major DNase hypersensitive sites (HSs) that mark this regulatory region. To examine fully the...
Hirschsprung disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of enteric ganglia. Three genes for HSCR have been identified: theRETproto-oncogene, the gene coding for the endothelin B receptor (EDNRB), and the endothelin 3 gene (EDN3). In mice, natural andin vitro-induced mutations affecting theRet, Ednrb,andEdn3genes generate a phenotype similar to...
K+channels are essential for a variety of cellular functions in both excitable and nonexcitable cells, and K+channel gene alteration has been recently described in cardiac and neurological disorders. To explore further the relations between hereditary human diseases and K+channels, we isolated from a human cosmid library the gene encoding the inwardly rectifying K+channel α-subunit Kir 2.2 (KCNJ12)...
X-linked lymphoproliferative disease (XLP) is characterized by a marked vulnerability to Epstein–Barr virus (EBV) infection. Infection of XLP patients with EBV invariably results in fatal mononucleosis, agammaglobulinemia, or malignant lymphoma. Initially the XLP gene was assigned to a 10-cM region in Xq25 between DXS42 and DXS37. Subsequently, an interstitial, cytogenetically visible deletion in...
In a previous study, we isolated a novel human cDNA with two domains of homology to secreted phospholipase A2(sPLA2) embedded within a much larger open reading frame. The corresponding gene, termed PLA2L, is also unusual in that it is transcribed from an endogenous retroviral long terminal repeat promoter in teratocarcinoma cell lines. The associated retroviral element, a member of the HERV-H family...
A library, containingM. spretusDNA in a half-YAC vector, was made and screened for clones hybridizing with an oligomer of the telomere hexamer TTAGGG. FISH to metaphase spreads of spleen cells showed hybridization of clone YTY3 to the distal ends of both X and Y chromosomes, consistent with localization to the pseudoautosomal region (PAR). Recombinational mapping in the BXD RI strains and an interspecies...
Because Wolfram (or DIDMOAD) syndrome is supposed to be a mitochondrial (mt)-mediated disease, we investigated a group of eight DIDMOAD patients with respect to point mutations of the mtDNA thus far described as being associated with defined mitochondrial disorders such as MELAS, MERRF, and LHON. Furthermore, to screen DIDMOAD patients for other mtDNA defects we used Southern blot analysis to detect...
TheTFDPgenes encode a family of transcription factors that can form heterodimers withE2Ffamily proteinsin vivo.The E2F–TFDP transcription factors are major regulators of genes that are required for the progression of S-phase, such as DHFR and DNA polymerase α, and they play a critical role in cell cycle regulation and differentiation. The retinoblastoma tumor suppressor protein has been shown to induce...
A comparative linkage map of human chromosome 13 and bovine chromosome 12 was constructed using eight polymorphic microsatellite markers associated with six specific genes. Linkage of these was also examined relative to five previously mapped anonymous microsatellite markers. Seven gene-linked markers were developed from bovine large-insert genomic clones containing one of five genes of interest (serotonin...
A cDNA sequencing project was initiated with the aim of isolating and mapping new genes expressed during early human development. A human embryo cDNA library was constructed, and a prescreening procedure was used to select cDNAs corresponding to poorly transcribed genes. Partial sequences were generated from one or both ends of 231 cDNA clones, and sequence comparison with genetic databases revealed...
The action of lipid phosphatases on inositol phosphates is thought to be one method that the cell uses to attenuate growth factor- or cytokine-induced mobilization of calcium. We have cloned a cDNA from a mouse spleen library that is virtually identical to the recently described inositol tetraphosphate and phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase, SHIP. Chromosomal localization studies...
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