Physical and Genetic Mapping of a Human Apical Epithelial Na+/H+ Exchanger (NHE3) Isoform to Chromosome 5p15.3

Steven R. Brant, Michael Bernstein, John J. Wasmuth, Eugene W. Taylor, John Douglas Mcpherson, Xiang Li, Susan Walker, Jacques Pouyssegur, Mark Donowitz, Chung Ming Tse, Ethylin Wang Jabs

Research output: Contribution to journalArticle

34 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)668-672
Number of pages5
JournalGenomics
Volume15
Issue number3
DOIs
StatePublished - Mar 1993

Fingerprint

Physical Chromosome Mapping
Sodium-Hydrogen Antiporter
Protein Isoforms
Chromosomes
Genes
Kidney Cortex
Chromosomes, Human, Pair 5
Hybrid Cells
Intestinal Absorption
Pedigree
Rodentia
Complementary DNA
Clone Cells
Epithelial Cells
Alleles
Rabbits
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

Physical and Genetic Mapping of a Human Apical Epithelial Na+/H+ Exchanger (NHE3) Isoform to Chromosome 5p15.3. / Brant, Steven R.; Bernstein, Michael; Wasmuth, John J.; Taylor, Eugene W.; Mcpherson, John Douglas; Li, Xiang; Walker, Susan; Pouyssegur, Jacques; Donowitz, Mark; Tse, Chung Ming; Jabs, Ethylin Wang.

In: Genomics, Vol. 15, No. 3, 03.1993, p. 668-672.

Research output: Contribution to journalArticle

Brant, SR, Bernstein, M, Wasmuth, JJ, Taylor, EW, Mcpherson, JD, Li, X, Walker, S, Pouyssegur, J, Donowitz, M, Tse, CM & Jabs, EW 1993, 'Physical and Genetic Mapping of a Human Apical Epithelial Na+/H+ Exchanger (NHE3) Isoform to Chromosome 5p15.3', Genomics, vol. 15, no. 3, pp. 668-672. https://doi.org/10.1006/geno.1993.1122
Brant, Steven R. ; Bernstein, Michael ; Wasmuth, John J. ; Taylor, Eugene W. ; Mcpherson, John Douglas ; Li, Xiang ; Walker, Susan ; Pouyssegur, Jacques ; Donowitz, Mark ; Tse, Chung Ming ; Jabs, Ethylin Wang. / Physical and Genetic Mapping of a Human Apical Epithelial Na+/H+ Exchanger (NHE3) Isoform to Chromosome 5p15.3. In: Genomics. 1993 ; Vol. 15, No. 3. pp. 668-672.
@article{02ebbaa092a84368b106a6d898fe7dc0,
title = "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.",
author = "Brant, {Steven R.} and Michael Bernstein and Wasmuth, {John J.} and Taylor, {Eugene W.} and Mcpherson, {John Douglas} and Xiang Li and Susan Walker and Jacques Pouyssegur and Mark Donowitz and Tse, {Chung Ming} and Jabs, {Ethylin Wang}",
year = "1993",
month = "3",
doi = "10.1006/geno.1993.1122",
language = "English (US)",
volume = "15",
pages = "668--672",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "3",

}

TY - JOUR

T1 - Physical and Genetic Mapping of a Human Apical Epithelial Na+/H+ Exchanger (NHE3) Isoform to Chromosome 5p15.3

AU - Brant, Steven R.

AU - Bernstein, Michael

AU - Wasmuth, John J.

AU - Taylor, Eugene W.

AU - Mcpherson, John Douglas

AU - Li, Xiang

AU - Walker, Susan

AU - Pouyssegur, Jacques

AU - Donowitz, Mark

AU - Tse, Chung Ming

AU - Jabs, Ethylin Wang

PY - 1993/3

Y1 - 1993/3

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0027516923&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027516923&partnerID=8YFLogxK

U2 - 10.1006/geno.1993.1122

DO - 10.1006/geno.1993.1122

M3 - Article

C2 - 8096830

AN - SCOPUS:0027516923

VL - 15

SP - 668

EP - 672

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 3

ER -