Purroy J, Bisceglia L, Calonge M J, Zelante L, Testar X, Zorzano A, Estivill X, Palacín M, Nunes V, Gasparini P
Departament de Genètica Molecular (IRO), Hospital Duran i Reynals, Barcelona, Spain.
Genomics. 1996 Oct 15;37(2):249-52. doi: 10.1006/geno.1996.0552.
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.
胱氨酸尿症是一种常染色体隐性氨基酸转运障碍疾病，表现为三种表型（I、II和III型）。一种氨基酸转运基因rBAT与胱氨酸尿症相关。突变和连锁分析表明该疾病具有异质性，rBAT是I型胱氨酸尿症中的缺陷基因。人类rBAT基因（HGMW认可符号为SLC 3A1）的基因组结构已通过两种策略确定：（i）通过将包含rBAT的Mega - YAC921B6（CEPH）亚克隆到Lambda ZAP中构建两个不同的基因组文库，并使用rBAT cDNA和不同的PCR产物进行筛选；（ii）使用rBAT cDNA衍生引物通过长PCR产生并测序基因组片段。rBAT基因跨度约45 kb，由10个外显子组成。内含子范围从500到13,000 bp。所有剪接位点均符合GT/AG规则。对启动子区域进行了进一步分析，在第一个编码ATG上游98 bp处鉴定出一个预测的TATA框。此外，在预测的TATA框上游72 bp处检测到一个Alu重复序列。
