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A novel mammalian gene,Eif4g2,with a high degree of homology to the p82 subunit of the wheat germ eukaryotic translation initiation factor eIF-(iso)4F and mammalian eIF-4G has been isolated. Zoo blot analysis indicates thatEif4g2is a single-copy gene that is highly conserved among vertebrates. Northern blot analysis shows thatEif4g2is ubiquitously expressed at high levels in all human and mouse tissues...
We describe the cloning and characterization of theNTTgene (noncoding transcript in T cells), identified by differential display RT-PCR based on the differential presence of its transcript in a subset of activated, human CD4 + T-cell clones. The full-length cDNA and genomic sequences were cloned and found to produce a 17-kb transcript that is polyadenylated, but is not spliced. Consistent...
The proximal end of mouse chromosome (Chr) 13 contains regions conserved on human chromosomes 1q42–q44, 6p23–p21, and 7p22–p13. This region also contains mutations that may be models for human disease, includingbeige(human Chediak–Higashi syndrome). An interspecific backcross of SB/Le andMus spretusmice was used to generate a molecular genetic linkage map of mouse chromosome 13 with an emphasis on...
A novel human gene referred to as the Rep-8 gene (D8S2298E) was cloned by a combination of exon trapping, thermal asymmetric interlaced-PCR, and screening of a cDNA library. It is located in human chromosome 8p11.2–p12. The gene consists of eight exons and spans about 20 kb between the glutathioneS-reductase and the protein phosphatase 2A beta subunit genes. The full-length Rep-8 gene contains 1483...
Mutations in the fatty aldehyde dehydrogenase (FALDH) gene cause Sjögren-Larsson syndrome (SLS)—a disease characterized by mental retardation, spasticity, and congenital ichthyosis. To facilitate mutation analysis in SLS and to study the pathogenesis of FALDH deficiency, we have determined the structural organization and characterized expression of the FALDH (proposed designation ALDH10) gene. The...
Infantile onset spinocerebellar ataxia (IOSCA) is a progressive neurological disorder of unknown etiology. It is inherited as an autosomal recessive trait and has so far been reported in just 19 Finnish patients in 13 separate families. We have previously assigned the IOSCA locus (HGMW-approved symbol SCA8) to chromosome 10q, where no previously identified ataxia loci are located. Haplotype analysis...
The KIT and FMS tyrosine kinase receptors, which are implicated in the control of cell growth and differentiation, stem through duplications from a common ancestor. We have conducted a detailed structural analysis of the two loci containing the KIT and FMS genes. The sequence of the ∼90-kb KIT locus reveals the position and size of the 21 introns and of the 5′ regulatory region of the KIT gene. The...
The ATP binding cassette (ABC) transporters, or traffic ATPases, constitute a large family of proteins responsible for the transport of a wide variety of substrates across cell membranes in both prokaryotic and eukaryotic cells. We describe a human ABC protein with regions of strong homology to the recently described murine ABC1 and ABC2 transporters. The gene for this novel protein, human ABC3, maps...
TheGLIfamily of zinc finger genes has been implicated in both neoplastic and developmental disorders. We have cloned and sequenced the mouse homolog of the zinc finger geneGli2and demonstrated significant similarity to the humanGLI3gene. We have also localizedGli2to mouse chromosome 1, in the vicinity of the morphogenetic mutationDominant hemimelia(Dh), which is characterized by tibial hemimelia,...
Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of inherited enamel defects. We recently mapped a locus for autosomal dominant local hypoplastic amelogenesis imperfecta (AIH2) to the long arm of chromosome 4. The disease gene was localized to a 17.6-cM region between the markers D4S392 and D4S395. The albumin gene (ALB), located in the same interval, was a candidate...
The mouse chromosome 6 locusCmv1controls replication of mouse Cytomegalovirus (MCMV) in the spleen of the infected host. In our effort to cloneCmv1,we have constructed a high-resolution genetic linkage map in the proximity of the gene. For this, a total of 45 DNA markers corresponding to either cloned genes or microsatellites were mapped within a 7.9-cM interval overlapping theCmv1region. We have...
Recently, we reported genetic linkage in Pima Indians between the acute insulin response to an intravenous glucose challenge and the short tandem repeat markerD1S198,indicative of a genetic element in this region that controls the phenotypic variation in the first phase of insulin secretion. As a first step to isolating the gene responsible for the acute insulin response, we have constructed a yeast...
The use of subtracted, region-specific cDNA libraries combined with single-pass cDNA sequencing allows the discovery of novel genes and facilitates molecular description of the tissue or region involved. We report the sequence of 497 mouse expressed sequence tags (ESTs) from two subtracted libraries enriched for cDNAs expressed in the substantia nigra, a brain region with important roles in movement...
We report the mapping of the human gene MPB1 (c-mycpromoter binding protein), a recently identified gene regulatory protein. MPB1 binds to the c-mycP2 promoter and exerts a negative regulatory role on c-myctranscription. Since exogenous expression from transfection of the MPB1 gene suppresses the tumorigenic property of breast cancer cells, there was interest in determining the chromosomal location...
Following a report of a linkage study that yielded evidence for a susceptibility locus for bipolar affective disorder on the long arm of chromosome 21, we studied 23 multiply affected pedigrees collected from Iceland and the UK, using the markers PFKL, D21S171, and D21S49. Counting only bipolar cases as affected, a two-point LOD of 1.28 was obtained using D21S171 (θ = 0.01, α = 0.35), with three Icelandic...
Mutations in the mouseformin(Fmn) gene, formerly known as thelimb deformity(ld) gene, give rise to recessively inherited limb deformities and renal malformations or aplasia. TheFmngene encodes many differentially processed transcripts that are expressed in both adult and embryonic tissues. To study the genomic organization of theFmnlocus, we have usedFmnprobes to isolate and characterize genomic clones...
GCAP1 and GCAP2 are related Ca 2+ -binding proteins that activate photoreceptor guanylate cyclase(s). We showed previously that the human GCAP1 gene, consisting of four exons, is located at 6p21.1 (locus designation GUCA). To identify the chromosomal location of the GCAP2 gene, we first cloned its cDNA and determined its intron–exon distribution by PCR analysis. The results show that the introns...
Capping protein (CP), a heterodimer of α and β subunits, is found in all eukaryotes. CP binds to the barbed ends of actin filamentsin vitroand controls actin assembly and cell motilityin vivo.Vertebrates have three α isoforms (α1, α2, α3) produced from different genes, whereas lower organisms have only one gene and one isoform. We isolated genomic clones corresponding to the α subunits of mouse CP...
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