X-chromosome inactivation: molecular mechanisms from the human perspective

作者：Yang Christine; Chapman Andrew G; Kelsey Angela D; Minks Jakub; Cotton Allison M; Brown Carolyn J^*

来源：Human Genetics, 2011, 130(2): 175-185.

DOI：10.1007/s00439-011-0994-9

X-chromosome inactivation is an epigenetic process whereby one X chromosome is silenced in mammalian female cells. Since it was first proposed by Lyon in 1961, mouse models have been valuable tools to uncover the molecular mechanisms underlying X inactivation. However, there are also inherent differences between mouse and human X inactivation, ranging from sequence content of the X inactivation center to the phenotypic outcomes of X-chromosome abnormalities. X-linked gene dosage in males, females, and individuals with X aneuploidies and X/autosome translocations has demonstrated that many human genes escape X inactivation, implicating cis-regulatory elements in the spread of silencing. We discuss the potential nature of these elements and also review the elements in the X inactivation center involved in the early events in X-chromosome inactivation.

• 出版日期2011-8