Molecular cloning and characterization of a novel human Rab ( Rab2B ) gene
Abstract. Rab proteins are small-molecular-weight guanosine triphosphatases (GTPases) that control vesicular traffic in eukaryotic cells. The small GTPase Rab2 is a resident of pre-Golgi intermediates and is required for protein transport from the endoplasmic reticulum to the Golgi complex. We identified a novel human Rab (Rab2B) gene that was 2312 bp in length and encoded a protein of 216 amino acid residues. The protein shared high homology with mouse Rab2 (identity 83%, similarity 91%). The expression pattern of the humanRab2B gene showed that there is a transcript in kidney, prostate, lung, liver, thymus, colon, pancre...
Source: Journal of Human Genetics - September 30, 2002 Category: Genetics & Stem Cells Source Type: research
Ovarian cancer of endometrioid type as part of the MSH6 gene mutation phenotype
Abstract. TheMSH6 gene is one of the DNA mismatch repair genes involved in development of inherited cancers, predominantly of the colorectum and endometrium. Herein we describe the first PolishMSH6 family and the pathological and clinical data about the ovarian cancer diagnosed in the proband. Our results and reports by others indicate that, besides colorectal and endometrial cancer, the late-onset endometrioid type of ovarian cancer can be a feature of families withMSH6 germline mutations. (Source: Journal of Human Genetics)
Source: Journal of Human Genetics - September 30, 2002 Category: Genetics & Stem Cells Source Type: research
No intraindividual variation of disomy rate in sperm samples
Abstract. We assessed possible inter- and intraindividual variations in the frequency of disomy in sperm cells from three men with abnormal sperm analysis parameters. Mono- and dual-color fluorescence in situ hybridization (FISH) was applied to sperm cells from different samples of the men. Four men with a normal sperm profile were used as controls. The samples were taken separately over a period of 6 months. FISH probes used for the disomy rate analysis were clones from the satellite region of chromosomes 8, 18, X, and Y. The study group showed a significantly higher disomy rate compared with the control group, whereas th...
Source: Journal of Human Genetics - September 30, 2002 Category: Genetics & Stem Cells Source Type: research
Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency
Abstract. Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. More than 90% of CAH cases are caused by mutations of theCYP21 gene. Approximately 75% of the defectiveCYP21 genes are generated through intergenic recombination, termed “apparent gene conversion,” from the neighboringCYP21Ppseudogene. A chimericCYP21P/CYP21gene with its 5 ′ end corresponding toCYP21P and 3 ′ end corresponding toCYP21 has been identified. This type of gene is nonfunctional because it produces a truncated protein. We found two distinct chimeric ...
Source: Journal of Human Genetics - September 30, 2002 Category: Genetics & Stem Cells Source Type: research
Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1 , UGT2B15 , and UGT8
We report here three high-density maps of variations found among 48 Japanese individuals in three uridine diphosphate glycosyltransferase (UGT) genes,UGT2A1,UGT2B15, andUGT8. A total of 86 single-nucleotide polymorphisms (SNPs) were identified through systematic screening of genomic regions containing these genes: 8 in 5 ′ flanking regions, 7 in coding regions, 67 in introns, 3 in 3′ untranslated regions, and 1 in a 3′ flanking region. We also discovered 14 variations of other types. Of the 86 SNPs, 63 (73%) were considered to be novel on the basis of comparison of our data with the Database of SNPs (dbSNP) of the Na...
Source: Journal of Human Genetics - September 30, 2002 Category: Genetics & Stem Cells Source Type: research
