Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2) to 7q33-34 Fiona E. Karet, Karin E. Finberg,

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Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2) to 7q33-34 Fiona E. Karet, Karin E. Finberg, Ahmet Nayir, Aysin Bakkaloglu, Seza Ozen, Sally A. Hulton, Sami A. Sanjad, Essam A. Al-Sabban, Juan F. Medina, Richard P. Lifton The American Journal of Human Genetics Volume 65, Issue 6, Pages 1656-1665 (December 1999) DOI: 10.1086/302679 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Urine acidification in the human collecting duct. A schematic drawing of a nephron is shown (left). To achieve alterations in urine H+ concentration of ≤10,000 fold, specialized α-intercalated cells of the collecting duct (right) secrete H+ ions across their apical surface via the multisubunit H+-ATPase pump (ATP6). This molecule comprises an ATP-catalytic “head” of 3A- and 3B1-subunits and a membrane-anchored “stalk” of at least eight other subunits. H+ secretion is coupled to absorption of HCO3− across the basolateral surface, by way of AE1, a 12–14-transmembrane-spanning Cl−/HCO3− exchanger. Other transporters probably contribute to H+ and HCO3− transport in this cell type, but their significance in humans remains unclear. The American Journal of Human Genetics 1999 65, 1656-1665DOI: (10.1086/302679) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Haplotypes across the rdRTA2 interval in kindreds with dRTA. Genotypes for polymorphic loci in their chromosomal order (left) are shown below the symbol for each available subject, as described in the Families, Material, and Methods section. Approximate genetic distances between adjacent loci are indicated. Genotypes enclosed by boxes indicate the maximum intervals across which affected patients are homozygous or concordant in consanguineous or outbred kindreds, respectively. LOD scores at Zmax for rdRTA2 in each kindred are indicated below the pedigree numbers. The American Journal of Human Genetics 1999 65, 1656-1665DOI: (10.1086/302679) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Haplotypes across the rdRTA2 interval in kindreds with dRTA. Genotypes for polymorphic loci in their chromosomal order (left) are shown below the symbol for each available subject, as described in the Families, Material, and Methods section. Approximate genetic distances between adjacent loci are indicated. Genotypes enclosed by boxes indicate the maximum intervals across which affected patients are homozygous or concordant in consanguineous or outbred kindreds, respectively. LOD scores at Zmax for rdRTA2 in each kindred are indicated below the pedigree numbers. The American Journal of Human Genetics 1999 65, 1656-1665DOI: (10.1086/302679) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Multipoint analysis of linkage in 13 kindreds with recessive dRTA and normal hearing. The model of linkage allowed for locus heterogeneity and was as specified in the Families, Material, and Methods section. Multipoint LOD scores across intervals containing (A) the ATP6B1 locus on chromosome 2p and (B) the newly identified rdRTA2 locus on chromosome 7q are shown. The Zmax achieved at ATP6B1 was 0.69, with α=.18. Analysis of linkage, comparing segregation of rdRTA2 with 16 linked marker loci, demonstrated a Zmax of 8.84. Approximate genetic distances between loci are shown in figure 2. Thick and thin bars indicate the LOD-1 and LOD-3 support intervals, respectively, for the location of rdRTA2. The American Journal of Human Genetics 1999 65, 1656-1665DOI: (10.1086/302679) Copyright © 1999 The American Society of Human Genetics Terms and Conditions