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, S. Merscher, M. G. Mattéi, G. F. Carle, M. Lazdunski, P. Barbry

Research output: Contribution to journalArticle

79 Scopus citations

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

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'Cloning, Chromosomal Localization, and Physical Linkage of the β and γ Subunits (SCNN1B and SCNN1G) of the Human Epithelial Amiloride-Sensitive Sodium Channel'. Together they form a unique fingerprint.

  • Cite this