title: Is the SLC7A10 gene on chromosome 19 a candidate locus for cystinuria?
abstract: One of the genes (SLC7A9) that causes cystinuria, an inborn error of amino acid transport, is localized to 19q13. Close examination of human genomic DNA sequences has identified a similar gene (SLC7A10) that also maps to the 19q13.1 region and is highly expressed in kidney. The homologies between SLC7A9 and SLC7A10 are likely the result of gene duplication. SLC7A10 is known to encode a protein with a function similar to that of the SLC7A9 gene product. To determine if mutations in the SLC7A10 gene could also cause cystinuria, we characterized the primary genomic structure and sequenced the 11 exons and surrounding sequences from 10 unrelated patients with cystinuria. We identified one missense mutation which may account for cystinuria in one family. We also observed one intronic change, as well as one silent mutation, that were seen only in cystinuria patients. We therefore suggest that the SLC7A10 gene warrants further investigation as another candidate gene for cystinuria.
authors.affiliation: Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Leclerc
authors.forename: Q
authors.initials: Q
authors.lastname: Wu
authors.forename: J R
authors.initials: JR
authors.lastname: Ellis
authors.forename: P
authors.initials: P
authors.lastname: Goodyer
authors.forename: R
authors.initials: R
authors.lastname: Rozen
mesh_terms: D000595:Amino Acid Sequence; D027182:Amino Acid Transport System y+; D002352:Carrier Proteins / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics*; D004252:DNA Mutational Analysis; D016208:Databases, Factual; D005091:Exons / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016415:Sequence Alignment
chemical_list: D027182:Amino Acid Transport System y+; D002352:Carrier Proteins; C498799:SLC7A10 protein, human