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

Abstract:

:A gene family of Na+/H+ exchanger isoforms has been identified. Characterization of rabbit NHE3 suggests that it is the apical epithelial Na+/H+ exchanger isoform responsible for transepithelial, electroneutral Na+ absorption in intestinal and renal epithelial cells. We 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.

journal_name

Genomics

journal_title

Genomics

authors

Brant SR,Bernstein M,Wasmuth JJ,Taylor EW,McPherson JD,Li X,Walker S,Pouyssegur J,Donowitz M,Tse CM

doi

10.1006/geno.1993.1122

subject

Has Abstract,Author List Incomplete

pub_date

1993-03-01 00:00:00

pages

668-72

issue

3

eissn

0888-7543

issn

1089-8646

pii

S0888754383711225

journal_volume

15

pub_type

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