RGD Reference Report - Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. International Cystinuria Consortium. - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. International Cystinuria Consortium.

Authors: Feliubadalo, L  Font, M  Purroy, J  Rousaud, F  Estivill, X  Nunes, V  Golomb, E  Centola, M  Aksentijevich, I  Kreiss, Y  Goldman, B  Pras, M  Kastner, DL  Pras, E  Gasparini, P  Bisceglia, L  Beccia, E  Gallucci, M  De Sanctis, L  Ponzone, A  Rizzoni, GF  Zelante, L  Bassi, MT  George AL, JR  Palacin, M  De Grandi, A  Riboni, M  Endsley, J K  Ballabio, A  Borsani, G  Reig, N  Fernández, E  Estévez, R  Pineda, M  Torrents, D  Camps, M  Lloberas, J  Zorzano, A  Palacín, M  Palacín, M 
Citation: Feliubadalo L, etal., Nat Genet 1999 Sep;23(1):52-7.
RGD ID: 737767
Pubmed: (View Article at PubMed) PMID:10471498
DOI: Full-text: DOI:10.1038/12652

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 (bo, +AT, for bo,+ 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 bo,+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 homozygous for a founder missense mutation (V170M) that abolishes b o,+AT amino-acid uptake activity when co-transfected with rBAT in COS cells. We identified four missense mutations (G105R, A182T, G195R and G295R) and two frameshift (520insT and 596delTG) mutations in other patients. Our data establish that mutations in SLC7A9 cause non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT.

Annotation

Disease Annotations    
cystinuria  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Slc7a9  (solute carrier family 7 member 9)

Genes (Mus musculus)
Slc7a9  (solute carrier family 7 (cationic amino acid transporter, y+ system), member 9)

Genes (Homo sapiens)
SLC7A9  (solute carrier family 7 member 9)


Additional Information