作者
Lídia Feliubadaló, Mariona Font, Jesús Purroy, Ferran Rousaud, Xavier Estivill, Virginia Nunes, Eliahu Golomb, Michael Centola, Ivona Aksentijevich, Yitshak Kreiss, Boleslaw Goldman, Mordechai Pras, Daniel L Kastner, Elon Pras, Paolo Gasparini, Luigi Bisceglia, Ercole Beccia, Michele Gallucci, Luisa De Sanctis, Alberto Ponzone, Gian Franco Rizzoni, Leopoldo Zelante, Maria Teresa Bassi, Alfred L George Jr, Marta Manzoni, Alessandro De Grandi, Mirko Riboni, John K Endsley, Andrea Ballabio, Giuseppe Borsani, Núria Reig, Esperanza Fernández, Raúl Estévez, Marta Pineda, David Torrents, Marta Camps, Jorge Lloberas, Antonio Zorzano, Manuel Palacín
发表日期
1999/9
期刊
Nature genetics
卷号
23
期号
1
页码范围
52-57
出版商
Nature Publishing Group
简介
Cystinuria (MIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids. Mutations in SLC3A1, encoding rBAT, cause cystinuria type I (ref. 1), but not other types of cystinuria (ref. 2). A gene whose mutation causes non-type I cystinuria has been mapped by linkage analysis to 19q12–13.1 (refs 3, 4). We have identified a new transcript, encoding a protein (b o,+ AT, for b o,+ amino acid transporter) belonging to a family of light subunits of amino acid transporters, expressed in kidney, liver, small intestine and placenta, and localized its gene (SLC7A9) to the non-type I cystinuria 19q locus. Co-transfection of b o,+ AT and rBAT brings the latter to the plasma membrane, and results in the uptake of L-arginine in COS cells. We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients. The Libyan Jewish patients are …
引用总数
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