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In a yeast artificial chromosome contig close to thenudelocus on mouse chromosome 11, we identified a novel gene, nucleoredoxin, that encodes a protein with similarity to the active site of thioredoxins. Nucleoredoxin is conserved between mammalian species, and two homologous genes were found inCaenorhabditis elegans.The nucleoredoxin transcripts are expressed in all adult tissues examined, but restricted...
Using PCR with pools of primers based on conserved sequences in chemokine receptors, we have cloned a human member of the G-protein-coupled receptor gene family. The new gene, which we have named STRL22, is predicted to encode a receptor related to chemokine receptors, including IL8RA (CXCR1), IL8RB (CXCR2), and CXCR4/fusin, and to the orphan receptors EBI1 and BLR1. Consistent with a role in leukocyte...
Autosomal recessive retinitis pigmentosa (arRP) is characterized by considerable allelic and nonallelic heterogeneity. Mutations have been described in the rhodopsin gene (RHO), the genes encoding the α and β subunits of rod phosphodiesterase (PDEA and PDEB), and the gene encoding the α subunit of the cGMP-gated channel (CNCG). In addition, linkage studies in single extended pedigrees have defined...
Spinal muscular atrophy (SMA) is a frequent autosomal recessive disease in human characterized by degeneration of motor neurons of the spinal cord. The genomic region containing the defective gene (5q13) is particularly unstable and prone to large-scale deletions whose characterization led to the identification of the survival motor neuron (SMN) gene, the SMA determining gene encoding a hitherto unknown...
Current knowledge of genes that regulate pattern formation and differentiation processes during mammalian embryonic development is limited. In an effort to isolate developmentally relevant genes, 20 novel, end-sequenced cDNAs selected from a Day 10.5 postcoitum mouse embryo library were genetically mapped in intersubspecific backcross mice. Eleven of 20 cDNA clones mapped to three mouse autosomes...
The gene for the small nuclear ribonucleoprotein N (SNRPN) maps to human chromosome 15 and has 10 exons. Using cDNA cloning, direct cDNA selection, and exon-connection reverse transcriptase (RT)–PCR, we have identified three novel 3′ exons ofSNRPN,which have no protein coding potential. Like the otherSNRPNexons, the novel exons are expressed from the paternal allele only. In contrast to several cDNA...
The AZ1 protein is localized to the preacrosome region of spermatids. Previous developmental studies suggested thatAZ1gene transcription begins in pachytene spermatocytes and that expression of the gene is induced in cultivated fibroblasts on treatment with 5-azacytidine, which is known to lead to the demethylation of genomic DNA. In the present study, we cloned the gene coding AZ1 cDNA and elucidated...
During the recent cloning of the mouseLystgene we developed both a high-resolution genetic map and a complete YAC and BAC contig of theLystcritical region on mouse Chromosome 13. We also report the mapping of the human homologue of the mouseLystgene (LYST) to 1q43. These data are consistent withLYSTbeing the gene for the human Chediak–Higashi Syndrome and strengthen the synteny relationship between...
Eleven balanced X-autosome translocations associated with premature ovarian failure (POF) were mapped to a YAC contig spanning most of Xq21 and constructed between the DXS223 and DXS1171 loci. The contig corresponds to a genomic region of about 15 Mb and contains the whole X-Y homologous region. The most proximal and most distal breakpoints associated with POF were mapped 15 Mb apart. The remaining...
Various random fingerprinting methods are sometimes used to detect overlap between pairs of clones as a first step toward producing a minimal tiling path of clones for subsequent mapping and sequencing efforts. This paper evaluates and compares various statistical procedures for detecting pairwise overlap between clones when the fingerprints arise from any random process meeting simple, plausible...
Neuroserpin is a novel serine protease inhibitor of the serpin family. It has been reported as a 55-kDa glycoprotein that is secreted from the axons of cultured central and peripheral nervous system neurons.In situhybridization and Northern blot analyses at different developmental stages of the chicken revealed that neuroserpin is predominantly expressed in the nervous system and that most cells expressing...
We report a high-resolution genetic map of 21 genes on the central region of mouse Chr 11. These genes were mapped by segregation analysis of more than 1650 meioses from three interspecific backcrosses. The order of these genes in mouse was compared to the previously established gene order in human. Eighteen of the 21 genes map to human Chr 5, and 2 of the genes define a proximal border for the region...
We have cloned and determined the structure of the 5′ region of the mouseNktrgene located on the distal end of mouse chromosome 9. This gene encodes an NK-cell-specific 150-kDa protein (NK-TR) homologous to cyclophilin, Nopp140, and SR-containing proteins. NK-TR expression is important for maintaining the lytic activity of natural killer cells. The region of theNktrgene cloned in this study spans...
We have cloned the human homologue ofSEC53or yeast phosphomannomutase (HGMW-approved symbol PMM1) from a liver cDNA library. This cDNA encodes a protein of 262 amino acids with a predicted molecular mass of 29 kDa and 54% identity with yeast phosphomannomutase. Expression of the human cDNA inEscherichia coliyielded an active phosphomannomutase, which was purified to homogeneity. Northern blot analysis...
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