Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/125987
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Type: Journal article
Title: Gene expression allelic imbalance in ovine brown adipose tissue impacts energy homeostasis
Author: Ghazanfar, S.
Vuocolo, T.
Morrison, J.
Nicholas, L.
McMillen, I.
Yang, J.
Buckley, M.
Tellam, R.
Citation: PLoS ONE, 2017; 12(6):e0180378
Publisher: Plos One
Issue Date: 2017
ISSN: 1932-6203
1932-6203
Statement of
Responsibility: 
Shila Ghazanfar, Tony Vuocolo, Janna L. Morrison, Lisa M. Nicholas, Isabella C. McMillen, Jean Y. H. Yang, ... et al.
Abstract: Heritable trait variation within a population of organisms is largely governed by DNA variations that impact gene transcription and protein function. Identifying genetic variants that affect complex functional traits is a primary aim of population genetics studies, especially in the context of human disease and agricultural production traits. The identification of alleles directly altering mRNA expression and thereby biological function is challenging due to difficulty in isolating direct effects of cis-acting genetic variations from indirect trans-acting genetic effects. Allele specific gene expression or allelic imbalance in gene expression (AI) occurring at heterozygous loci provides an opportunity to identify genes directly impacted by cis-acting genetic variants as indirect trans-acting effects equally impact the expression of both alleles. However, the identification of genes showing AI in the context of the expression of all genes remains a challenge due to a variety of technical and statistical issues. The current study focuses on the discovery of genes showing AI using single nucleotide polymorphisms as allelic reporters. By developing a computational and statistical process that addressed multiple analytical challenges, we ranked 5,809 genes for evidence of AI using RNA-Seq data derived from brown adipose tissue samples from a cohort of late gestation fetal lambs and then identified a conservative subgroup of 1,293 genes. Thus, AI was extensive, representing approximately 25% of the tested genes. Genes associated with AI were enriched for multiple Gene Ontology (GO) terms relating to lipid metabolism, mitochondrial function and the extracellular matrix. These functions suggest that cis-acting genetic variations causing AI in the population are preferentially impacting genes involved in energy homeostasis and tissue remodelling. These functions may contribute to production traits likely to be under genetic selection in the population.
Keywords: Homeostasis
Rights: © 2017 Ghazanfar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
RMID: 1000014759
DOI: 10.1371/journal.pone.0180378
Grant ID: http://purl.org/au-research/grants/arc/FT0991918
http://purl.org/au-research/grants/arc/DP130100488
http://purl.org/au-research/grants/nhmrc/1066916
Appears in Collections:Animal and Veterinary Sciences publications

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