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The mitochondrial genome

Part 1. Genetics

1.5. Complex Traits and Diseases

Short Specialist Review

  1. Douglas C. Wallace

Published Online: 15 NOV 2005

DOI: 10.1002/047001153X.g105317

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Wallace, D. C. 2005. The mitochondrial genome. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.5:66.

Author Information

  1. University of California, Irvine, CA, USA

Publication History

  1. Published Online: 15 NOV 2005

Abstract

The human mitochondrial genome consists of approximately 1500 genes, 37 encoded by the maternally inherited mitochondrial DNA (mtDNA) and the remainder encoded by the nuclear chromosomes. Mutation in the nDNA genes result in Mendelian diseases that affect mitochondrial function or mtDNA replication and stability. Mutations in the mtDNA include ancient adaptive polymorphisms, maternally inherited diseases, and somatic mutations that contribute to age-related diseases, aging, and cancer.

Keywords:

  • mitochondrial;
  • mtDNA;
  • maternal inheritance;
  • degenerative diseases;
  • cancer;
  • aging