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The T55 rat radiation hybrid (RH) mapping panel has been reported to retain the entire rat genome at retention frequencies between 22% and 37%. However, we found that a small segment of rat chromosome 10 harboring at least four different genes, including Tp53, was completely absent from the panel (retention frequency = 0%). Two other markers located in the vicinity exhibited much reduced retention...
The possible association of the 190G->A (Val64Ile) polymorphism of the CC chemokine receptor-2 gene (CCR2) with bone mineral density (BMD) was examined in 2215 subjects (1125 men, 1090 women), all of whom were community-dwelling individuals aged 40 to 79 years. Among men aged <60 years, BMD for the distal radius, lumbar spine, or Ward's triangle was significantly greater in those with the AA...
The chemokine receptor CCR3 has a critical function in the pathogenesis of eosinophilic diseases and is an entry co-receptor for HIV-1. We describe here the genomic organization and general transcriptional control mechanism for the human gene CCR3. We identified six cDNA transcripts formed by alternative splicing of eight exons and seven introns. CCR3 contains a 37-bp core promoter domain (-3 to +34...
Complete and partial deletions of chromosome 5q are recurrent cytogenetic anomalies associated with aggressive myeloid malignancies. Earlier, we identified an ~1.5-Mb region of loss at 5q13.3 between the loci D5S672 and D5S620 in primary leukemic blasts. A leukemic cell line, ML3, is diploid for all of chromosome 5, except for an inversion-coupled translocation within the D5S672-D5S620 interval. Here,...
Most cases of autosomal dominant polycystic kidney disease are caused by mutations in the gene PKD1, encoding polycystin-1. To gain insight into the role of polycystin-1 in tubulogenesis and cystogenesis using the well-characterized canine kidney epithelial cell line MDCK, we have now cloned and characterized the exon/intron structure of the canine gene PKD1. FISH analysis showed that the dog genome...
Lymphocyte antigen-6 (LY-6) superfamily members are cysteine-rich, generally GPI-anchored cell surface proteins, which have definite or putative immune related roles. A cluster of five potential LY-6 superfamily members is located in the human and mouse major histocompatibility complex class III region. Comparative analysis of their genomic and cDNA sequences allowed us to carry out detailed annotations...
Minisatellites provide very informative systems for analyzing processes of tandem repeat DNA turnover in humans. The mouse genome also contains authentic minisatellites, but none has yet been found to show high levels of instability. Indirect evidence using minisatellite variant repeat mapping by PCR in Mus musculus subspecies suggested that mouse minisatellites mutate at a rate below 10 - ...
Using the 650-kb DNA sequence from the minimally deleted region in B-cell chronic lymphocytic leukemia (BCLL), we have identified a new gene, FAM10A4, that maps to the proximal end of the region. This gene has been shown to be part of a now six-member family of genes with high homology to the ST13 tumor suppressor gene. We have established conditions to specifically undertake mutation studies of the...
Here we describe the isolation and characterization of the mouse homolog of the human zinc-finger transcription factor INSM1 (IA-1) and identify an interacting protein. A 2.9-kb cDNA with an open reading frame of 1563 nucleotides, corresponding to a translated protein of 521 amino acids, was isolated from a mouse βTC-1 cDNA library. Mouse INSM1 was found to be 86% identical to human INSM1 and both...
The cerebral cortex is a tissue with a high degree of neuronal diversity. It consists of six cell layers with a unique set of neuronal subtypes. A crucial step in the process of cortical differentiation is the transition from a mitotically active neuroblast to a postmitotic young neuron. To identify genes involved in the control of this transition, we applied a novel method of cDNA subtraction based...
CHODL, a novel human gene encoding chondrolectin, was isolated by PCR screening. It is localized at chromosome 21q21 and consists of six exons and five introns. The open reading frame of CHODL encodes a type I transmembrane protein containing a single carbohydrate recognition domain (CRD) of C-type lectins in its extracellular portion. CHODL was detected as a 2.6-kb transcript by northern blot using...
Fierce (frc) mice are deleted for nuclear receptor 2e1 (Nr2e1), and exhibit cerebral hypoplasia, blindness, and extreme aggression. To characterize the Nr2e1 locus, which may also contain the mouse kidney disease (kd) allele, we compared sequence from human, mouse, and the puffer fish Fugu rubripes. We identified a novel gene, c222389, containing conserved elements in noncoding regions. We also discovered...
We established a recessive cataract model from a spontaneous mutation in the KUNMING outbred mice. Lens opacity appears 11 days after birth. Slit lamp examination reveals that the opacity mainly localizes to the nuclear region of the lens. Histological analysis shows a severe degeneration of the epithelial cells underneath the anterior lens capsule, whereas those cells in the equatorial region display...
Aerobic capacity is a complex trait that defines the efficiency to use atmospheric oxygen as an electron acceptor in energy transfer. Copenhagen (COP) and DA inbred rat strains show a wide difference in a test for aerobic treadmill running and serve as contrasting genetic models for aerobic capacity. A genome scan was carried out on an F 2 (COPxDA) segregating population (n=224) to detect...
We have cloned the gene neuron navigator-1 (NAV1), a human homolog of unc-53, a gene involved in axon guidance in Caenorhabditis elegans. Duplications during evolution gave rise to three human homologs located on chromosomes 1q32.1, 11p15.1, and 12q21.1. NAV1 and NAV2 are expressed in the developing brain. NAV1, NAV2, and NAV3 expression is detected in adult heart, kidney, and brain, respectively...
Autosomal recessive polycystic kidney disease (ARPKD) is a common hereditary renal cystic disease in infants and children. By genetic linkage analyses, the gene responsible for this disease, termed polycystic kidney and hepatic disease 1 (PKHD1), was mapped on human chromosome 6p21.1-p12, and has been further localized to a 1-cM genetic interval flanked by the D6S1714/D6S243 (telomeric) and D6S1024...
Nuclear mitochondrial pseudogenes (Numts) have been found in the genome of many eukaryote species, including humans. Using a BLAST approach, we found 1105 DNA sequences homologous to mitochondrial DNA (mtDNA) in the August 2001 Goldenpath human genome database. We assembled these sequences manually into 286 pseudogenes on the basis of single insertion events and constructed a chromosomal map of these...
We report here the identification and characterization of a novel gene (AUTS2) that spans the 7q11.2 breakpoint in a monozygotic twin pair concordant for autism and a t(7;20) (q11.2; p11.2) translocation. AUTS2 is 1.2 Mb and has 19 exons. The predicted protein is 1295 amino acids and does not correspond to any known protein. DNA sequence analysis of autism subjects and controls revealed 22 biallelic...
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