The Mitochondrial Chromosome
المؤلف:
Cohn, R. D., Scherer, S. W., & Hamosh, A.
المصدر:
Thompson & Thompson Genetics and Genomics in Medicine
الجزء والصفحة:
9th E, P10
2025-10-26
56
As mentioned earlier, a small but important subset of genes encoded in the human genome resides in the cytoplasm in the mitochondria (see Fig. 1). Mitochondrial genes exhibit exclusively maternal inheritance. Human cells can have hundreds to thousands of mitochondria, each containing a number of copies of a small circular molecule, the mitochondrial chromosome. The mitochondrial DNA molecule is only 16 kb in length (just a tiny fraction of the length of even the smallest nuclear chromosome) and encodes only 37 genes. The products of these genes function in mitochondria, although the vast majority of proteins within the mitochondria are, in fact, the products of nuclear genes. Pathogenic variants in mitochondrial genes have been demonstrated in several maternally inherited as well as sporadic disorders.
Fig1. The human genome, encoded on both nuclear and mitochondrial chromosomes. (Based on Brown TA: Genomes, ed 2, New York, 2002, Wiley-Liss. Inset from Paulson JR, Laemmli UK: The structure of histone-depleted metaphase chromosomes, Cell 12:817–828, 1977. Reprinted with permission of the authors and Cell Press.)
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