Genomic organization of SLC3A1, a transporter gene mutated in cystinuria

Journal Article · Thu Aug 15 00:00:00 EDT 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0437· OSTI ID:484337

Pras, E; Sood, R; Raben, N ^[1]

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1. National Inst. of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD (United States)

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. 20 refs., 3 figs., 2 tabs.

• OSTI ID: 484337
• Journal Information: Genomics, Vol. 36, Issue 1; Other Information: PBD: 15 Aug 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENE MUTATIONS
DETECTION
PATIENTS
HEREDITARY DISEASES
SCREENING
UROGENITAL SYSTEM DISEASES
PROTEINS
STRUCTURE-ACTIVITY RELATIONSHIPS
TRANSCRIPTION
GENE REGULATION
TISSUE DISTRIBUTION
GENETIC MAPPING
DNA-CLONING
DNA SEQUENCING
HUMAN CHROMOSOME 2
CYSTINE
AMINO ACIDS
EXONS
POLYMERASE CHAIN REACTION
RECESSIVE MUTATIONS