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dc.contributor.authorHouweling, PJ
dc.contributor.authorBerman, YD
dc.contributor.authorTurner, N
dc.contributor.authorQuinlan, KGR
dc.contributor.authorSeto, JT
dc.contributor.authorYang, N
dc.contributor.authorLek, M
dc.contributor.authorMacarthur, DG
dc.contributor.authorCooney, G
dc.contributor.authorNorth, KN
dc.date.accessioned2020-12-22T05:44:25Z
dc.date.available2020-12-22T05:44:25Z
dc.date.issued2017-07-01
dc.identifierpii: ijo201772
dc.identifier.citationHouweling, P. J., Berman, Y. D., Turner, N., Quinlan, K. G. R., Seto, J. T., Yang, N., Lek, M., Macarthur, D. G., Cooney, G. & North, K. N. (2017). Exploring the relationship between alpha-actinin-3 deficiency and obesity in mice and humans. INTERNATIONAL JOURNAL OF OBESITY, 41 (7), pp.1154-1157. https://doi.org/10.1038/ijo.2017.72.
dc.identifier.issn0307-0565
dc.identifier.urihttp://hdl.handle.net/11343/258348
dc.description.abstractObesity is a worldwide health crisis, and the identification of genetic modifiers of weight gain is crucial in understanding this complex disorder. A common null polymorphism in the fast fiber-specific gene ACTN3 (R577X) is known to influence skeletal muscle function and metabolism. α-Actinin-3 deficiency occurs in an estimated 1.5 billion people worldwide, and results in reduced muscle strength and a shift towards a more efficient oxidative metabolism. The X-allele has undergone strong positive selection during recent human evolution, and in this study, we sought to determine whether ACTN3 genotype influences weight gain and obesity in mice and humans. An Actn3 KO mouse has been generated on two genetic backgrounds (129X1/SvJ and C57BL/6J) and fed a high-fat diet (HFD, 45% calories from fat). Anthropomorphic features (including body weight) were examined and show that Actn3 KO 129X1/SvJ mice gained less weight compared to WT. In addition, six independent human cohorts were genotyped for ACTN3 R577X (Rs1815739) and body mass index (BMI), waist-to-hip ratio-adjusted BMI (WHRadjBMI) and obesity-related traits were assessed. In humans, ACTN3 genotype alone does not contribute to alterations in BMI or obesity.
dc.languageEnglish
dc.publisherNATURE PUBLISHING GROUP
dc.titleExploring the relationship between alpha-actinin-3 deficiency and obesity in mice and humans
dc.typeJournal Article
dc.identifier.doi10.1038/ijo.2017.72
melbourne.affiliation.departmentPaediatrics (RCH)
melbourne.source.titleInternational Journal of Obesity
melbourne.source.volume41
melbourne.source.issue7
melbourne.source.pages1154-1157
dc.rights.licenseCC BY
melbourne.elementsid1192885
melbourne.contributor.authorHouweling, Peter
melbourne.contributor.authorSeto, Jane
melbourne.contributor.authorNorth, Kathryn
dc.identifier.eissn1476-5497
melbourne.accessrightsOpen Access


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