title: A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans.
abstract: The amiloride-sensitive sodium channel is responsible for the rate-limiting step of sodium reabsorption in the distal renal tubule, and thus may play a key role in the maintenance of sodium balance and blood pressure. In this study, a genetic variant that results in a change of threonine to methionine at amino acid 594 (T594 M) in the carboxy-terminus of the beta-subunit of the amiloride-sensitive sodium channel has been identified. This variant was present in 6.1% of African-American subjects (N = 231) but was not seen in Caucasians (N = 192). Whole cell voltage clamp of B-lymphocytes from individuals with the T594 M variant showed similar basal membrane slope conductance, compared with the wild-type but increased response to cAMP analog.
authors.affiliation: Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati Medical Center, OH 45267-0524, USA.
authors.forename: Y R
authors.initials: YR
authors.lastname: Su
authors.forename: M P
authors.initials: MP
authors.lastname: Rutkowski
authors.forename: C A
authors.initials: CA
authors.lastname: Klanke
authors.forename: X
authors.initials: X
authors.lastname: Wu
authors.forename: Y
authors.initials: Y
authors.lastname: Cui
authors.forename: R Y
authors.initials: RY
authors.lastname: Pun
authors.forename: V
authors.initials: V
authors.lastname: Carter
authors.forename: M
authors.initials: M
authors.lastname: Reif
authors.forename: A G
authors.initials: AG
authors.lastname: Menon
mesh_terms: D000450:Aldosterone / Q000097:blood / Q000652:urine; D000584:Amiloride / Q000494:pharmacology; D000595:Amino Acid Sequence; D001402:B-Lymphocytes / Q000378:metabolism; D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D001794:Blood Pressure / Q000187:drug effects / Q000502:physiology; D003062:Codon / Q000378:metabolism; D004247:DNA / Q000235:genetics; D004232:Diuretics / Q000494:pharmacology; D004553:Electric Conductivity; D053503:Epithelial Sodium Channels; D014644:Genetic Variation; D006801:Humans; D066298:In Vitro Techniques; D008564:Membrane Potentials; D009318:Natriuresis / Q000235:genetics / Q000502:physiology; D015222:Sodium Channels / Q000187:drug effects / Q000235:genetics* / Q000378:metabolism; D044465:White People / Q000235:genetics; D001741:Black or African American
chemical_list: D003062:Codon; D004232:Diuretics; D053503:Epithelial Sodium Channels; D015222:Sodium Channels; D000450:Aldosterone; D000584:Amiloride; D004247:DNA