PHysical and genetic mapping of a human apical epithelial Na[sup +]/H[sup +] exchanger (NHE3) isoform to chromosome 5p15. 3

Journal Article · Mon Mar 01 00:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1122· OSTI ID:6597019

Brant, S R; Bernstein, M; Taylor, E W; Li, Xiang; Walker, S; Donowitz, M; Tse, Chungming; Jabs, E W ^[1]; Wasmuth, J J; McPherson, J D ^[2]; Pouyssegur, J ^[3]

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1. Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)
2. Univ. of California, Irvine (United States)
3. Universite de Nice (France)

A gene family of Na[sup +]/H[sup +] exchanger isoforms has been identified. Characterization of rabbit NHE3 suggests that it is the apical epithelial Na[sup +]/H[sup +] exchanger isoform responsible for transepithelial, electroneutral Na[sup +] absorption in intestinal and renal epithelial cells. The authors have previously isolated from a human kidney cortex library a partial human NHE3 cDNA, clone HKC-3. Using HKC-3 to probe human/rodent somatic cell hybrid mapping panels, the human NHE3 gene was physically mapped to the distal portion of chromosome 5p15.3. Southern analysis of EcoRI-digested human genomic DNAs of CEPH pedigrees probed with HKC-3 detected three polymorphic sites containing a total of nine alleles that segregate in a Mendelian fashion. The observed heterozygosity for the NHE3 locus in unrelated individuals was 71%. Linkage analysis between NHE3 and other markers known to map at 5p15 confirmed the localization of NHE3 to chromosome 5p15.3, making NHE3 the most telomeric gene identified on the short arm of chromosome 5. 23 refs., 2 figs., 2 tabs.

• OSTI ID: 6597019
• Journal Information: Genomics; (United States), Vol. 15:3; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN CHROMOSOME 5
GENETIC MAPPING
HYDROGEN
ION EXCHANGE
MEMBRANE PROTEINS
GENES
SODIUM
INTESTINAL ABSORPTION
ABSORPTION
EPITHELIUM
KIDNEYS
MAPS
PANELS
ALKALI METALS
ANIMAL TISSUES
BODY
CHROMOSOMES
ELEMENTS
HUMAN CHROMOSOMES
MAPPING
METALS
NONMETALS
ORGANIC COMPOUNDS
ORGANS
PROTEINS
SORPTION
TISSUES
UPTAKE
550400* - Genetics