Non-canonical and sexually dimorphic X dosage compensation states in the mouse and human germline
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Mahesh N Sangrithi Helene Royo Shantha Mahadevaiah Andrew Ojarikre Leena Bhaw Abdul Sesay Antoine HFM Peters Michael Stadler James TurnerAbstract
Somatic X dosage compensation requires two mechanisms: X inactivation balances X gene output between males (XY) and females (XX), while X upregulation, hypothesized by Ohno and documented in vivo, balances X gene with autosomal gene output. Whether X dosage compensation occurs in germ cells is unclear. We show that mouse and human germ cells exhibit non-canonical X dosage states that differ from the soma and between the sexes. Prior to genome-wide reprogramming, X upregulation is present, consistent with Ohno's hypothesis. Subsequently, however, it is erased. In females, erasure follows loss of X inactivation, causing X dosage excess. Conversely, in males, erasure leads to permanent X dosage decompensation. Sex chromosomally abnormal models exhibit a "sex-reversed" X dosage state: XX males, like XX females, develop X dosage excess, while XO females, like XY males, develop X dosage decompensation. Thus, germline X dosage compensation states are determined by X chromosome number, not phenotypic sex. These unexpected differences in X dosage compensation states between germline and soma offer unique perspectives on sex chromosome infertility.
Journal details
Journal Developmental Cell
Volume 40
Issue number 3
Pages 289-301.e3
Available online
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Publisher website (DOI) 10.1016/j.devcel.2016.12.023
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Europe PubMed Central 28132849
Pubmed 28132849
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