Molecular cloning and physical and genetic mapping of a novel human Na{sup +}/H{sup +} exchanger (NHE5/SLC9A5) to chromosome 16q22.1

Journal Article · Fri Feb 10 00:00:00 EST 1995 · Genomics

DOI:https://doi.org/10.1016/0888-7543(95)80002-4· OSTI ID:232685

Klanke, C A; Su, Yan Ru; Wang, Zhuo ^[1]

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1. Univ. of Cincinnati Medical Center, OH (United States); and others

A human genomic clone for a novel fifth member of the Na{sup +}/H{sup +} exchanger (NHE) family, NHE5 (gene symbol SLC9A5), has been isolated and partially sequenced. The deduced amino acid sequence of two exons, containing 154 codons, exhibits 59-73% identity to the other members of the NHE family, with closest similarity to NHE3. Northern blot analysis demonstrated that the NHE5 gene is expressed in brain, testis, spleen, and skeletal muscle. Fluorescence in situ hybridization analysis of a cosmid containing NHE5 to human metaphase chromosomes localized the NHE5 gene to the cytogenetic interval 16q21-q22. A panel of somatic cell hybrids containing various portions of chromosome 16 was used to refine further the placement of NHE5 within band 16q22.1. A polymorphic dinucleotide (GT/CA){sub n} repeat contained in the NHE5 cosmid was identified and developed into a microsatellite PCR marker. This was typed in a subset of the CEPH (Centre d`Etude du Polymorphisme Humain) families to place it on a genetic map of the human genome. Pairwise linkage analysis of this marker showed that it was linked to marker D16S421 with a maximal lod score of 35.21 at a recombination fraction ({theta}) of 0.000, in complete concordance with its chromosomal localization by physical mapping. Multipoint linkage analysis placed NHE5 between the flanking markers D16S421 and D16S512. The cloning of this new member of the sodium hydrogen exchanger family, its chromosomal localization, and the discovery of a polymorphic marker for it now make it feasible to study the possible involvement of this gene in disorders of Na{sup +}/H{sup +} transport. 29 refs., 7 figs., 3 tabs.

• OSTI ID: 232685
• Journal Information: Genomics, Vol. 25, Issue 3; Other Information: PBD: 10 Feb 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENES
GENETIC MAPPING
DNA-CLONING
DNA SEQUENCING
TISSUE DISTRIBUTION
HUMAN CHROMOSOME 16
SOMATIC CELLS
HYBRIDIZATION
METABOLIC DISEASES
POLYMERASE CHAIN REACTION
STATISTICS
BIOLOGICAL MARKERS
SODIUM
AMINO ACID SEQUENCE
EXONS
CODONS
FLUORESCENCE
DNA HYBRIDIZATION
COSMIDS
NUCLEOTIDES