Cloning, Chromosomal Localization, and Physical Linkage of the β and γ Subunits (SCNN1B and SCNN1G) of the Human Epithelial Amiloride-Sensitive Sodium Channel

N. Voilley, F. Bassilana, C. Mignon, Sandra M Merscher-gomez, M. G. Mattéi, G. F. Carle, M. Lazdunski, P. Barbry

Research output: Contribution to journalArticle

78 Citations (Scopus)

Abstract

Three subunits of the amiloride-sensitive Na+ channel, named α, β, and γ, have previously been cloned in rat colon. The human lung α chain (SCNN1A) has also been cloned and its gene localized on chromosome 12p13. We now report the molecular cloning of the human lung β (SCNN1B) and γ (SCNN1G) chains. In situ hybridization and pulsed-field electrophoresis experiments demonstrate that both genes are located within a common 400-kb fragment on chromosome 16p12-p13. Screening of the cDNA library reveals two forms of the β subunit that differ by the presence or absence of a 464-bp fragment in the 3′ region. A frameshift in the short form modifies the COOH terminal sequence of the corresponding protein. Since several similar frameshifts mutations have recently been reported in patients affected by a rare form of hypertension, the existence of COOH truncated forms of the β chain might be of physiological importance.

Original languageEnglish (US)
Pages (from-to)560-565
Number of pages6
JournalGenomics
Volume28
Issue number3
DOIs
StatePublished - Aug 10 1995
Externally publishedYes

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Epithelial Sodium Channels
Organism Cloning
Chromosomes
Lung
Frameshift Mutation
Amiloride
Molecular Cloning
Gene Library
Genes
In Situ Hybridization
Electrophoresis
Colon
Hypertension
Proteins

ASJC Scopus subject areas

  • Genetics

Cite this

Cloning, Chromosomal Localization, and Physical Linkage of the β and γ Subunits (SCNN1B and SCNN1G) of the Human Epithelial Amiloride-Sensitive Sodium Channel. / Voilley, N.; Bassilana, F.; Mignon, C.; Merscher-gomez, Sandra M; Mattéi, M. G.; Carle, G. F.; Lazdunski, M.; Barbry, P.

In: Genomics, Vol. 28, No. 3, 10.08.1995, p. 560-565.

Research output: Contribution to journalArticle

Voilley, N. ; Bassilana, F. ; Mignon, C. ; Merscher-gomez, Sandra M ; Mattéi, M. G. ; Carle, G. F. ; Lazdunski, M. ; Barbry, P. / Cloning, Chromosomal Localization, and Physical Linkage of the β and γ Subunits (SCNN1B and SCNN1G) of the Human Epithelial Amiloride-Sensitive Sodium Channel. In: Genomics. 1995 ; Vol. 28, No. 3. pp. 560-565.
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