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TheINT6gene is a common integration site for the mouse mammary tumor virus in mouse mammary tumors. We have determined that the human homolog ofINT6is located on chromosome region 8q22–q23. A processedINT6pseudogene is located on chromosome 6q.INT6is composed of 13 exons that span 45 kb of genomic DNA. The deduced amino acid sequence of the gene product is identical to the mouse protein and contains...
In the course of a search for microsatellites as centromeric polymorphic markers at the 3′ ends ofAluor L1 elements, we observed a much higher frequency of L1 thanAluelements embedded within alpha satellite DNA. By sequence analysis of the L1 elements at their alphoid locus of insertion, we found that the insertion site was specific, with the consensus being (Py)2–10/(Pu)3–7. All potential sites within...
A clone of immature cDNA for human casein kinase I γ2 (CSNK1G2) was isolated by screening the human testis cDNA library with a PCR-amplified probe (about 400 bp) representing the kinase domain of rat casein kinase I γ2 (CKI γ2). Comparison of the entire sequence with that of rat CKI γ2 showed that the cDNA contained the complete coding sequence of CKI γ2 as well as an intron-like sequence of 1006...
Corneal dystrophy of the anterior basement membrane is a heterogeneous set of diseases characterized by painful, recurrent, bilateral erosions of the cornea, which often result in significant visual impairment. There are several similar but clinically distinct forms of anterior basement membrane/Bowman's membrane disease, including two autosomal dominant forms, Reis–Bücklers and Thiel–Behnke corneal...
The chromosomal locations of the human TEP1 (telomerase protein component 1) and mouse Tep1 genes, which were originally named TLP1 (telomerase protein 1) or TP1 (telomerase-associated protein 1), were determined by direct R-banding FISH and a molecular linkage analysis with interspecific backcross mice. The human TEP1 and mouse Tep1 genes were mapped by FISH to human chromosome 14q11.2 and to the...
Sorbitol dehydrogenase (Sord) catalyzes the interconversion of sorbitol and fructose and is functionally important both in the metabolism of dietary sorbitol and as a source of fructose in semen. Together with aldose reductase, Sord forms the polyol pathway, which plays an important role in the etiology of diabetic complications. The Sord-deficient mouse (C57BL/LiA) is very useful in animal model...
Misalignment between the two elements of the CMT1A-REP binary repeat on chromosome 17p11.2–p12 causes two inherited peripheral neuropathies, Charcot–Marie–Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies. This binary repeat contains repetitive DNA elements that include LINES, SINES, medium reiteration frequency repeats, and a transposon-like element. TheCOX10gene...
A family of related connexin genes encodes the subunit gap junction proteins that form intercellular channels in different tissues. Connexin40 (Cx40) is one of these proteins, and it exhibits limited expression only in a few cells of the cardiovascular system. To begin to analyze Cx40 expression, we isolated a 3.3-kb rat Cx40 cDNA by hybridization screening of a bacteriophage library prepared from...
We describe the cloning of a near full-length cDNA of 4258 nucleotides encodingfreac-9(HGMW-approved symbolFKHL17), a novel human forkhead gene. The 5′ untranslated region is unusual since it is very long, 2127 nucleotides, and contains 15 upstream AUG codons. Hybridization to a panel consisting of RNA derived from 50 different tissues showed thatfreac-9is transcribed exclusively in the kidney. The...
We previously identified eight testis-specific genes using antibodies raised against testicular germ cells. They are expressed during spermatogenesis and are presumed to be involved in testicular germ cell differentiation and sperm formation. We have mapped the genomic loci for these testis-specific genes using restriction fragment length variants in interspecific backcross mice. The calmegin gene...
The primer oligo base extension reaction combined with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, recently introduced by our group for detection of single-point mutations and small insertions/deletions, has been applied to the reliable quantification of nucleotide repeat units in microsatellites. The AluVpA DNA marker within intron 5 of the interferon-α receptor...
Two mouse models developed for screening anxiolytic drugs were selected for genetic analysis, namely “wall-seeking” tendency in an open field (“thigmotaxis”) and the light-to-dark transition (LD) paradigm, a conflict test. These tests measure differences in naturalistic tendencies of mice to explore a novel environment and to avoid a bright light or the center of an open field. In an F2 intercross...
The human ribosomal protein L29, which we reported previously, was subsequently shown to have the same nucleotide sequence as that of cell surface heparin/heparan sulfate-binding protein, designated HP/HS interacting protein. A polymerase chain reaction-based strategy was used to distinguish the functional intron-containing geneRPL29(HGMW-approved symbol) from multiple pseudogenes. By somatic cell...
Linkage of asthma and high total serum IgE levels to chromosome 12q15–q24.1 has been recently described. To evaluate this region further in regard to total IgE responsiveness, we genotyped 52 unrelated German children with persistently “high” total serum IgE (selected from a noninterventional prospective multicenter cohort study) and their parents. We carefully defined a most extreme IgE phenotype...
The nuclear orphan receptor subfamily ROR/RZR is part of the steroid and thyroid hormone/retinoid receptor superfamily and consists of three different genes, α, β, and γ. In this study, we determined the genomic structure of mouse RORγ and the chromosomal localization of both mouse RORγ and human RORγ (HGMW-approved symbol RORC). The genomic structure of the mouse RORγ gene was derived from the analysis...
Studies ofDrosophilaphotoreceptor development have illustrated the means by which signal transduction events regulate cell fate decisions in a multicellular organization. Development of the R7 photoreceptor is best understood, and its formation is dependent on theseven in absentia(sina) gene. We have characterized two highly conserved human homologs ofsina,termedSIAH1andSIAH2. SIAH1maps to chromosome...
The FASTA package of sequence comparison programs has been expanded to include FASTX and FASTY, which compare a DNA sequence to a protein sequence database, translating the DNA sequence in three frames and aligning the translated DNA sequence to each sequence in the protein database, allowing gaps and frameshifts. Also new are TFASTX and TFASTY, which compare a protein sequence to a DNA sequence database,...
2,4-Dienoyl-CoA reductase (EC 1.3.1.34) is an auxiliary enzyme of β-oxidation, and it participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions. In this article we describe the molecular cloning of the human gene for the 120-kDa isoform of mitochondrial 2,4-dienoyl-CoA reductase (DECR). The gene is approximately 30 kb and comprises...
The human chromosome 20p telomere has been cloned on a yeast artificial chromosome (YAC). The telomere-associated DNA contains an interstitial tract of (TTAGGG)ntelomeric repeats 60 kb in from the chromosome end. Frequent truncation of the YAC clone was observed due to resolution of the internal telomeric array into a telomere. The 20p internal telomeric repeat tract is flanked on its centromeric...
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