X inactivation and disease.
X inactivation is the mechanism by which mammals adjust the X-linked gene dosage between the sexes. The dosage difference between XX females and XY males is functionally equalized by silencing one of the two X chromosomes in female cells. This dosage-compensation mechanism is based on the long functional Xist RNA. Here, we review our understanding of dosage compensation and Xist function in the context of disease.
Agrelo
Ruben
R
Research Institute of Molecular Pathology, Dr. Bohr-Gasse 7, 1030 Vienna, Austria.
Wutz
Anton
A
D000818:Animals; D004303:Dosage Compensation, Genetic / Q000502:physiology*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000502:physiology*; D049951:X Chromosome Inactivation / Q000502:physiology*
D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; C077885:XIST non-coding RNA