Journal
ANNUAL REVIEW OF GENETICS, VOL 46
Volume 46, Issue -, Pages 537-560Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genet-110711-155454
Keywords
dosage compensation; X upregulation; X inactivation; epigenetics; evolution; sex chromosomes
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Funding
- NIGMS NIH HHS [GM079537, GM046883, R01 GM079537, R01 GM046883] Funding Source: Medline
- NIMH NIH HHS [MH083949, R01 MH083949] Funding Source: Medline
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Differentiated sex chromosomes evolved because of suppressed recombination once sex became genetically controlled. In XX/XY and ZZ/ZW systems, the heterogametic sex became partially aneuploid after degeneration of the Y or W. Often, aneuploidy causes abnormal levels of gene expression throughout the entire genome. Dosage compensation mechanisms evolved to restore balanced expression of the genome. These mechanisms include upregulation of the heterogametic chromosome as well as repression in the homogametic sex. Remarkably, strategies for dosage compensation differ between species. In organisms where more is known about molecular mechanisms of dosage compensation, specific protein complexes containing noncoding RNAs are targeted to the X chromosome. In addition, the dosage-regulated chromosome often occupies a specific nuclear compartment. Some genes escape dosage compensation, potentially resulting in sex-specific differences in gene expression. This review focuses on dosage compensation in mammals, with comparisons to fruit flies, nematodes, and birds.
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