Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 11
Volume 11, Issue -, Pages 25-44Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-082509-141720
Keywords
evolution; mitochondria; organelle; respiratory chain disease; tissue diversity; oxidative phosphorylation
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Funding
- NIGMS NIH HHS [R01GM077465, R01 GM077465] Funding Source: Medline
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM077465] Funding Source: NIH RePORTER
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For nearly three decades, the sequence of the human mitochondrial genome (mtDNA) has provided a molecular framework for understanding maternally inherited diseases. However, the vast majority of human mitochondria] disorders are caused by nuclear genome defects, which is not surprising since the mtDNA encodes only 13 proteins. Advances in genomics, mass spectrometry, and computation have only recently made it possible to systematically identify the complement of over 1,000 proteins that comprise the mammalian mitochondrial proteome. Here, we review recent progress in characterizing the mitochondrial proteome and highlight insights into its complexity, tissue heterogeneity, evolutionary origins, and biochemical versatility. We then discuss how this proteome is being used to discover the genetic basis of respiratory chain disorders as well as to expand our definition of mitochondrial disease. Finally, we explore future prospects and challenges for using the mitochondrial proteome as a foundation for systems analysis of the organelle.
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