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Evidence for mitochondrial genetic control of autosomal gene expression

Overview of attention for article published in Human Molecular Genetics, October 2016
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Title
Evidence for mitochondrial genetic control of autosomal gene expression
Published in
Human Molecular Genetics, October 2016
DOI 10.1093/hmg/ddw347
Pubmed ID
Authors

Irfahan Kassam, Tuan Qi, Luke Lloyd-Jones, Alexander Holloway, Marc Jan Bonder, Anjali K. Henders, Nicholas G. Martin, Joseph E. Powell, Lude Franke, Grant W. Montgomery, Peter M. Visscher, Allan F. McRae

Abstract

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.

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Mendeley readers

The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 21 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 33%
Researcher 4 19%
Student > Doctoral Student 2 10%
Student > Bachelor 2 10%
Student > Master 2 10%
Other 1 5%
Unknown 3 14%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 33%
Agricultural and Biological Sciences 5 24%
Environmental Science 1 5%
Pharmacology, Toxicology and Pharmaceutical Science 1 5%
Psychology 1 5%
Other 2 10%
Unknown 4 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 June 2017.
All research outputs
#14,278,154
of 22,896,955 outputs
Outputs from Human Molecular Genetics
#6,379
of 8,037 outputs
Outputs of similar age
#179,646
of 316,298 outputs
Outputs of similar age from Human Molecular Genetics
#40
of 60 outputs
Altmetric has tracked 22,896,955 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 8,037 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.9. This one is in the 19th percentile – i.e., 19% of its peers scored the same or lower than it.
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We're also able to compare this research output to 60 others from the same source and published within six weeks on either side of this one. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.