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Document type:
Journal Article; Research Support, Non-U.S. Gov't; nicht gelistet
Author(s):
Herlyn, H; Zechner, U; Oswald, F; Pfeufer, A; Zischler, H; Haaf, T
Title:
Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes.
Abstract:
KCNE1 represents the regulatory beta-subunit of the slowly activating delayed rectifier potassium channel (IKs). Variants of KCNE1 have repeatedly been linked to the long-QT syndrome (LQTS), a disorder which predisposes to deafness, ventricular tachyarrhythmia, syncope, and sudden cardiac death.We here analyze the evolution of the common Gly38Ser variant (rs1805127), using genomic DNAs, complementary DNAs, and HEK293-expressed variants of altogether 19 mammalian species. The between species comp...     »
Journal title abbreviation:
BMC Evol Biol
Year:
2009
Journal volume:
9
Pages contribution:
188
Language:
eng
Fulltext / DOI:
doi:10.1186/1471-2148-9-188
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/19660109
TUM Institution:
Institut für Humangenetik
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