TY - JOUR
T1 - Genetic heterogeneity in cystinuria
T2 - The SLC3A1 gene is linked to type I but not to type III cystinuria
AU - Calonge, María Julia
AU - Volpini, Victor
AU - Bisceglia, Luigi
AU - Rousaud, Ferran
AU - De Sanctis, Luisa
AU - Beccia, Ercole
AU - Zelante, Leopoldo
AU - Testar, Xavier
AU - Zorzano, Antonio
AU - Estivill, Xavier
AU - Gasparini, Paolo
AU - Nunes, Virginia
AU - Palacín, Manuel
PY - 1995/10/10
Y1 - 1995/10/10
N2 - Cystinuria is an autosomal recessive aminoaciduria where three urinary phenotypes have been described (I, II, and III). An amino acid transporter gene, SLC3A1 (formerly rBAT), was found to be responsible for this disorder. To assess whether mutations in SLC3A1 are involved in different cystinuria phenotypes, linkage with this gene and its nearest marker (D2S119) was analyzed in 22 families with type I and/or type III cystinuria. Linkage with heterogeneity was proved (α = 0.45; P <0.008). Type I/I families showed homogeneous linkage to SLC3A1 (Z(max) > 3.0 at θ = O.00; α = 1), whereas types I/III and III/III were not linked. Our data suggest that type I cystinuria is due to mutations in the SLC3A1 gene, whereas another locus is responsible for type III. This result establishes genetic heterogeneity for cystinuria, classically considered as a multiallelic monogenic disease.
AB - Cystinuria is an autosomal recessive aminoaciduria where three urinary phenotypes have been described (I, II, and III). An amino acid transporter gene, SLC3A1 (formerly rBAT), was found to be responsible for this disorder. To assess whether mutations in SLC3A1 are involved in different cystinuria phenotypes, linkage with this gene and its nearest marker (D2S119) was analyzed in 22 families with type I and/or type III cystinuria. Linkage with heterogeneity was proved (α = 0.45; P <0.008). Type I/I families showed homogeneous linkage to SLC3A1 (Z(max) > 3.0 at θ = O.00; α = 1), whereas types I/III and III/III were not linked. Our data suggest that type I cystinuria is due to mutations in the SLC3A1 gene, whereas another locus is responsible for type III. This result establishes genetic heterogeneity for cystinuria, classically considered as a multiallelic monogenic disease.
KW - neutral and basic amino acid transporter
KW - rBAT gene
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U2 - 10.1073/pnas.92.21.9667
DO - 10.1073/pnas.92.21.9667
M3 - Article
C2 - 7568194
AN - SCOPUS:0028785882
VL - 92
SP - 9667
EP - 9671
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
SN - 0027-8424
IS - 21
ER -