Abstract
Cystinuria is a classic heritable aminoaciduria that involves the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine. Six missense mutations in the human rBAT gene, which is involved in high-affinity transport of cystine and dibasic amino acids in kidney and intestine, segregate with cystinuria. These mutations account for 30% of the cystinuria chromosomes studied. Homozygosity for the most common mutation (M467T) was detected in three cystinuric siblings. Mutation M467T nearly abolished the amino acid transport activity induced by rBAT in Xenopus oocytes. These results establish rBAT as a cystinuria gene.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Amino Acid Transport Systems, Basic*
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Base Sequence
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Biological Transport
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Carrier Proteins / genetics*
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Child
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Chromosome Mapping
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Chromosomes, Human, Pair 2*
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Cystine / metabolism*
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Cystinuria / genetics*
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Cystinuria / metabolism
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DNA Mutational Analysis
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DNA Primers
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Female
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Genes
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Genes, Recessive*
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Homozygote
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Humans
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Intestinal Mucosa / metabolism
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Intestinal Mucosa / ultrastructure
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Kidney Tubules / metabolism
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Kidney Tubules / ultrastructure
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Male
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Membrane Glycoproteins / genetics*
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Microvilli / metabolism
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Molecular Sequence Data
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Mutagenesis, Site-Directed
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Polymerase Chain Reaction
Substances
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Amino Acid Transport Systems, Basic
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Carrier Proteins
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DNA Primers
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Membrane Glycoproteins
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SLC7A9 protein, human
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Cystine