GENOMIC ORGANIZATION OF SLC3A1, A TRANSPORTER GENE MUTATED IN CYSTINURIA

The SLC3A1 gene encodes a transport protein for cystine and the dibasi c amino acids. Recently mutations in this gene have been shown to caus e cystinuria. We report the genomic structure and organization of SLC3 A1, which is composed of 10 exons and spans nearly 45 kb. Until now sc reening for mutations in SLC3A1 has been based on RT-PCR amplification of illegitimate mRNA transcripts from white blood cells. In this repo rt we provide primers for amplification of exons from genomic DNA, thu s simplifying the process of screening for SLC3A1 mutations in cystinu ria. (C) 1996 Academic Press, Inc.