title: Genomic organization of SLC3A1, a transporter gene mutated in cystinuria.
abstract: The SLC3A1 gene encodes a transport protein for cystine and the dibasic amino acids. Recently mutations in this gene have been shown to cause cystinuria. We report the genomic structure and organization of SLC3A1, which is composed of 10 exons and spans nearly 45 kb. Until now screening for mutations in SLC3A1 has been based on RT-PCR amplification of illegitimate mRNA transcripts from white blood cells. In this report we provide primers for amplification of exons from genomic DNA, thus simplifying the process of screening for SLC3A1 mutations in cystinuria.
authors.affiliation: Department of Medicine C, Sheba Medical Center, Tel-Hashomer, 52621, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Pras
authors.forename: R
authors.initials: R
authors.lastname: Sood
authors.forename: N
authors.initials: N
authors.lastname: Raben
authors.forename: I
authors.initials: I
authors.lastname: Aksentijevich
authors.forename: X
authors.initials: X
authors.lastname: Chen
authors.forename: D L
authors.initials: DL
authors.lastname: Kastner
mesh_terms: D026923:Amino Acid Transport Systems, Basic; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D003553:Cystine / Q000378:metabolism; D003555:Cystinuria / Q000235:genetics*; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007438:Introns / Q000235:genetics; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011401:Promoter Regions, Genetic / Q000235:genetics; D015183:Restriction Mapping; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D017931:DNA Primers; D008562:Membrane Glycoproteins; C499489:SLC7A9 protein, human; D003553:Cystine