Evidence for mitochondrial genetic control of autosomal gene expression.

  title={Evidence for mitochondrial genetic control of autosomal gene expression.},
  author={Irfahan Kassam and Tuan Qi and Luke R. Lloyd-Jones and Alexander Holloway and Marc Jan Bonder and Anjali K. Henders and Nicholas G. Martin and Joseph E. Powell and Lude Franke and Grant W. Montgomery and Peter M. Visscher and Allan F. McRae},
  journal={Human molecular genetics},
  volume={25 24},
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… 

Figures and Tables from this paper

Nuclear genetic regulation of the human mitochondrial transcriptome
Using whole-genome genetic data, 64 nuclear loci associated with expression levels of 14 genes encoded in the mitochondrial genome are identified, including missense variants within genes involved in mitochondrial function, implicating genetic mechanisms that act in trans across the two genomes.
Discovery of mitochondrial DNA variants associated with genome-wide blood cell gene expression: a population-based mtDNA sequencing study.
This study pinpoints new independent mtSNPs associated with peripheral blood transcriptomics and replicates six previously reported associations, providing further evidence of the mitochondrial genetic control of blood cell gene expression.
Genetic basis of mitochondrial diseases
The current status of the genetic basis of mitochondrial diseases is covered, current challenges and perspectives are discussed, and the contribution of factors beyond the protein‐coding regions and monogenic inheritance in the expansion of the Genetic spectrum of disease is explored.
Diet induced the change of mtDNA copy number and metabolism in Angus cattle
This study examined the mtDNA copy number, mitochondria-related genes expression, and metabolic biomarkers in grass-fed and grain-fed Angus cattle to provide further insight into the adaptive and regulatory modulations of the mitochondrial function in response to different feeding systems in Angus cattle.


Experimental Evidence Supports a Sex-Specific Selective Sieve in Mitochondrial Genome Evolution
This work expresses five mitochondrial variants alongside a standard nuclear genome in Drosophila melanogaster and finds striking sexual asymmetry in patterns of nuclear gene expression, suggesting an evolutionary mechanism that results in mitochondrial genomes harboring male-specific mutation loads.
Gene Expression Pattern in Transmitochondrial Cytoplasmic Hybrid Cells Harboring Type 2 Diabetes-Associated Mitochondrial DNA Haplogroups
Variations in mtDNA can affect the expression of nuclear genes regulating mitochondrial functions or cellular energetics, and it is speculated that defective nuclear compensation, under certain circumstances, might lead to the development of T2DM.
Power and SNP tagging in whole mitochondrial genome association studies.
The strong concordance in allele frequencies and linkage disequilibrium between the European sequences and the Australian sample indicates that the results presented here are transferable across populations of European descent.
The Brisbane Systems Genetics Study: Genetical Genomics Meets Complex Trait Genetics
The Brisbane Systems Genetics Study (BSGS) is described, a family-based study that will be used to elucidate the genetic factors affecting gene expression and the role of gene regulation in mediating endophenotypes and complex diseases.
Mother's curse: the effect of mtDNA on individual fitness and population viability.
Congruence of Additive and Non-Additive Effects on Gene Expression Estimated from Pedigree and SNP Data
A gene expression study in blood samples of 862 individuals from 312 nuclear families containing MZ or DZ twin pairs shows that gene expression is predominantly additive, but a minority of transcripts display non-additive effects.
Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA
Natural human genetic variation is relied upon to identify effects of variants on trans-gene expression (expression quantitative trait locus mapping, eQTL) in whole peripheral blood from 1,469 unrelated individuals, supporting the concept that the effects of these SNPs on expression seems to be much less multifactorial.
Tuning a ménage à trois: Co‐evolution and co‐adaptation of nuclear and organellar genomes in plants
  • S. Greiner, R. Bock
  • Biology
    BioEssays : news and reviews in molecular, cellular and developmental biology
  • 2013
It is described how nuclear‐cytoplasmic co‐evolution can cause genetic incompatibilities that contribute to the establishment of hybridization barriers, ultimately leading to the formation of new species.
GCTA: a tool for genome-wide complex trait analysis.
Systematic identification of trans eQTLs as putative drivers of known disease associations
Variants associated with cholesterol metabolism and type 1 diabetes showed similar phenomena, indicating that large-scale eQTL mapping provides insight into the downstream effects of many trait-associated variants.