排序方式: 共有2条查询结果,搜索用时 15 毫秒
1
1.
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19 总被引:7,自引:0,他引:7
Seow HF Bröer S Bröer A Bailey CG Potter SJ Cavanaugh JA Rasko JE 《Nature genetics》2004,36(9):1003-1007
Hartnup disorder (OMIM 234500) is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. We localized a gene causing Hartnup disorder to chromosome 5p15.33 and cloned a new gene, SLC6A19, in this region. SLC6A19 is a sodium-dependent and chloride-independent neutral amino acid transporter, expressed predominately in kidney and intestine, with properties of system B(0). We identified six mutations in SLC6A19 that cosegregated with disease in the predicted recessive manner, with most affected individuals being compound heterozygotes. The disease-causing mutations that we tested reduced neutral amino acid transport function in vitro. Population frequencies for the most common mutated SLC6A19 alleles are 0.007 for 517G --> A and 0.001 for 718C --> T. Our findings indicate that SLC6A19 is the long-sought gene that is mutated in Hartnup disorder; its identification provides the opportunity to examine the inconsistent multisystemic features of this disorder. 相似文献
2.
Genome sequence of Silicibacter pomeroyi reveals adaptations to the marine environment 总被引:2,自引:0,他引:2
Moran MA Buchan A González JM Heidelberg JF Whitman WB Kiene RP Henriksen JR King GM Belas R Fuqua C Brinkac L Lewis M Johri S Weaver B Pai G Eisen JA Rahe E Sheldon WM Ye W Miller TR Carlton J Rasko DA Paulsen IT Ren Q Daugherty SC Deboy RT Dodson RJ Durkin AS Madupu R Nelson WC Sullivan SA Rosovitz MJ Haft DH Selengut J Ward N 《Nature》2004,432(7019):910-913
Since the recognition of prokaryotes as essential components of the oceanic food web, bacterioplankton have been acknowledged as catalysts of most major biogeochemical processes in the sea. Studying heterotrophic bacterioplankton has been challenging, however, as most major clades have never been cultured or have only been grown to low densities in sea water. Here we describe the genome sequence of Silicibacter pomeroyi, a member of the marine Roseobacter clade (Fig. 1), the relatives of which comprise approximately 10-20% of coastal and oceanic mixed-layer bacterioplankton. This first genome sequence from any major heterotrophic clade consists of a chromosome (4,109,442 base pairs) and megaplasmid (491,611 base pairs). Genome analysis indicates that this organism relies upon a lithoheterotrophic strategy that uses inorganic compounds (carbon monoxide and sulphide) to supplement heterotrophy. Silicibacter pomeroyi also has genes advantageous for associations with plankton and suspended particles, including genes for uptake of algal-derived compounds, use of metabolites from reducing microzones, rapid growth and cell-density-dependent regulation. This bacterium has a physiology distinct from that of marine oligotrophs, adding a new strategy to the recognized repertoire for coping with a nutrient-poor ocean. 相似文献
1