Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19
-
Altmetric Citations
Seow, Heng; Broer, Stefan; Broer, Angelika; Bailey, Charles; Potter, Simon; Cavanaugh, Juleen; Rasko, John Edward
Description
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 B0. We identified six mutations in SLC6A19 that...[Show more]
dc.contributor.author | Seow, Heng | |
---|---|---|
dc.contributor.author | Broer, Stefan | |
dc.contributor.author | Broer, Angelika | |
dc.contributor.author | Bailey, Charles | |
dc.contributor.author | Potter, Simon | |
dc.contributor.author | Cavanaugh, Juleen | |
dc.contributor.author | Rasko, John Edward | |
dc.date.accessioned | 2015-12-13T22:40:00Z | |
dc.date.available | 2015-12-13T22:40:00Z | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.uri | http://hdl.handle.net/1885/78035 | |
dc.description.abstract | 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 B0. 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. | |
dc.publisher | Nature Publishing Group | |
dc.source | Nature Genetics | |
dc.subject | Keywords: amino acid transporter; chloride; neutral amino acid transporter; sodium; unclassified drug; amino acid transport; article; autosomal recessive disorder; chromosome 5p; compound heterozygote; controlled study; gastrointestinal tract; gene; gene frequency; | |
dc.title | Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19 | |
dc.type | Journal article | |
local.description.notes | Imported from ARIES | |
local.description.refereed | Yes | |
local.identifier.citationvolume | 36 | |
dc.date.issued | 2004 | |
local.identifier.absfor | 060110 - Receptors and Membrane Biology | |
local.identifier.absfor | 070508 - Tree Nutrition and Physiology | |
local.identifier.ariespublication | MigratedxPub6729 | |
local.type.status | Published Version | |
local.contributor.affiliation | Seow, Heng, University of Sydney | |
local.contributor.affiliation | Broer, Stefan, College of Medicine, Biology and Environment, ANU | |
local.contributor.affiliation | Broer, Angelika, College of Medicine, Biology and Environment, ANU | |
local.contributor.affiliation | Bailey, Charles, Centenary Institute of Cancer Medicine and Cell Biology | |
local.contributor.affiliation | Potter, Simon, University of Sydney | |
local.contributor.affiliation | Cavanaugh, Juleen, College of Medicine, Biology and Environment, ANU | |
local.contributor.affiliation | Rasko, John Edward, University of Sydney | |
local.bibliographicCitation.issue | 9 | |
local.bibliographicCitation.startpage | 1003 | |
local.bibliographicCitation.lastpage | 1007 | |
local.identifier.doi | 10.1038/ng1406 | |
dc.date.updated | 2015-12-11T09:53:23Z | |
local.identifier.scopusID | 2-s2.0-4444377675 | |
Collections | ANU Research Publications |
Download
Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.
Updated: 17 November 2022/ Responsible Officer: University Librarian/ Page Contact: Library Systems & Web Coordinator