Cultural advice

The Australian National University acknowledges, celebrates and pays our respects to the Ngunnawal and Ngambri people of the Canberra region and to all First Nations Australians on whose traditional lands we meet and work, and whose cultures are among the oldest continuing cultures in human history.

Aboriginal and Torres Strait Islander peoples are advised that ANU Library collections may include images, names, voices, and other representations of deceased persons.

Material in the collection may contain terms, language or views that reflect the period in which the item was created and may be considered inappropriate today.

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

Thumbnail Image

Date

2007

Authors

MacArthur, Daniel
Seto, Jane T
Raftery, Joanna M
Quinlan, Kate G
Huttley, Gavin Austin
Hook, Jeff W
Lemckert, Frances A
Kee, Anthony J
Edwards, Michael R
Berman, Yemima

Journal Title

Journal ISSN

Volume Title

Publisher

Nature Publishing Group

Abstract

More than a billion humans worldwide are predicted to be completely deficient in the fast skeletal muscle fiber protein α-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene. The R577X polymorphism is associa

Description

Keywords

Keywords: alpha actinin; alpha actinin 3; unclassified drug; animal experiment; animal model; article; Asia; controlled study; Europe; female; gene expression; gene function; genetic variability; human; knockout mouse; male; mouse; muscle metabolism; mutation; nonh

Citation

URI

http://hdl.handle.net/1885/29134

Collections

ANU Research Publications

Source

Nature Genetics

Type

Journal article

Book Title

Entity type

Access Statement

License Rights

DOI

10.1038/ng2122

Restricted until

2037-12-31

Downloads

File
Description
01_MacArthur_Loss_of_ACTN3_gene_function_2007.pdf (325.25 KB)

DSpace software copyright © 2002-2026 LYRASIS