Genomic structure and organization of the human rBAT gene (SLC3A1)

Cystinuria is an autosomal recessive disorder of amino acid transport, manifesting as three phenotypes (I, II, and III). An amino acid transport gene, rBAT, is responsible for cystinuria. Mutation and linkage analyses have demonstrated the disease to be heterogeneous, with rBAT being the defective g...

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Published inGenomics (San Diego, Calif.) Vol. 37; no. 2; pp. 249 - 252
Main Authors PURROY, J, BISCEGLIA, L, CALONGE, M. J, ZELANTE, L, TESTAR, X, ZORZANO, A, ESTIVILL, X, PALACIN, M, NUNES, V, GASPARINI, P
Format Journal Article
LanguageEnglish
Published San Diego, CA Elsevier 15.10.1996
Subjects
Amino Acid Transport Systems, Basic
Biological and medical sciences
Carrier Proteins - genetics
Cystinuria - genetics
Exons
Fundamental and applied biological sciences. Psychology
Genes. Genome
Genome, Human
Humans
Introns
Membrane Glycoproteins - genetics
Molecular and cellular biology
Molecular genetics
Polymerase Chain Reaction
Human
Urinary system disease
Nucleotide sequence
Transcription promoter
Biological transport
Tubulopathy
Metabolic diseases
Renal disease
Gene organization
Cystinuria
Genetic disease
Gene
Aminoacid
Chromosome DNA
Genetics
Aminoacid disorder
Aminoaciduria
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Summary:Cystinuria is an autosomal recessive disorder of amino acid transport, manifesting as three phenotypes (I, II, and III). An amino acid transport gene, rBAT, is responsible for cystinuria. Mutation and linkage analyses have demonstrated the disease to be heterogeneous, with rBAT being the defective gene in type I cystinuria. The genomic structure of the human rBAT gene (HGMW-approved symbol SLC 3A1) has been established via two strategies: (i) construction of two different genomic libraries by subcloning the Mega-YAC921B6 (CEPH), containing rBAT, in Lambda ZAP and screening using rBAT cDNA and different PCR products; and (ii) generation and sequencing of genomic fragments by long PCR using rBAT cDNA-derived primers. The rBAT gene spans approximately 45 kb and consists of 10 exons. The introns range from 500 to 13,000 bp. All splice sites conform to the GT/AG rule. The promoter region has been further analyzed, and a predicted TATA box 98 bp upstream of the first coding ATG was identified. In addition an Alu repeat has been detected 72 bp upstream of the predicted TATA box.
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ISSN:0888-7543
1089-8646
DOI:10.1006/geno.1996.0552