Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
27798101
TITLE
Evidence for mitochondrial genetic control of autosomal gene expression.
ABSTRACT
NlmCategory: UNASSIGNED
The mitochondrial and nuclear genomes coordinate and co-evolve in eukaryotes in order to adapt to environmental changes. Variation in the mitochondrial genome is capable of affecting expression of genes on the nuclear genome. Sex-specific mitochondrial genetic control of gene expression has been demonstrated in Drosophila melanogaster, where males were found to drive most of the total variation in gene expression. This has potential implications for male-related health and disease resulting from variation in mtDNA solely inherited from the mother. We used a family-based study comprised of 47,323 gene expression probes and 78 mitochondrial SNPs (mtSNPs) from n = 846 individuals to examine the extent of mitochondrial genetic control of gene expression in humans. This identified 15 significant probe-mtSNP associations (P < 10(-8)) corresponding to 5 unique genes on the mitochondrial and nuclear genomes, with three of these genes corresponding to mitochondrial genetic control of gene expression in the nuclear genome. The associated mtSNPs for three genes (one cis and two trans associations) were replicated (P < 0.05) in an independent dataset of n = 452 unrelated individuals. There was no evidence for sexual dimorphic gene expression in any of these five probes. Sex-specific effects were examined by applying our analysis to males and females separately and testing for differences in effect size. The MEST gene was identified as having the most significantly different effect sizes across the sexes (P ≈ 10(-7)). MEST was similarly expressed in males and females with the G allele; however, males with the C allele are highly expressed for MEST, while females show no expression of the gene. This study provides evidence for the mitochondrial genetic control of expression of several genes in humans, with little evidence found for sex-specific effects.
The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
DATE PUBLISHED
2016 Oct 18
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2016/10/04
accepted 2016/10/05
pubmed 2016/11/01 06:00
medline 2016/11/01 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Kassam I Kassam Irfahan I Queensland Brain Institute, The University of Queensland, Brisbane 4072, QLD, Australia i.kassam@uq.edu.au.
Qi T Qi Tuan T Queensland Brain Institute, The University of Queensland, Brisbane 4072, QLD, Australia.
Lloyd-Jones L Lloyd-Jones Luke L Queensland Brain Institute, The University of Queensland, Brisbane 4072, QLD, Australia.
Holloway A Holloway Alexander A Queensland Brain Institute, The University of Queensland, Brisbane 4072, QLD, Australia.
Bonder MJ Bonder Marc Jan MJ Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
Henders AK Henders Anjali K AK Queensland Brain Institute, The University of Queensland, Brisbane 4072, QLD, Australia.
Martin NG Martin Nicholas G NG Queensland Institute of Medical Research Berghofer Medical Research Institute, Brisbane 4029, QLD, Australia.
Powell JE Powell Joseph E JE Institute for Molecular Bioscience, University of Queensland, Saint Lucia, Brisbane, 4072, Australia.
Franke L Franke Lude L Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
Montgomery GW Montgomery Grant W GW Queensland Institute of Medical Research Berghofer Medical Research Institute, Brisbane 4029, QLD, Australia.
Visscher PM Visscher Peter M PM University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland, Brisbane 4072, QLD, Australia.
McRae AF McRae Allan F AF Queensland Brain Institute, The University of Queensland, Brisbane 4072, QLD, Australia.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: Human molecular genetics
ISOABBREVIATION: Hum. Mol. Genet.
YEAR: 2016
MONTH: Oct
DAY: 18
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1460-2083
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Mol Genet
COUNTRY: England
ISSNLINKING: 0964-6906
NLMUNIQUEID: 9208958
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
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