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Inherited Human Sex Reversal due to Loss of a Water-Mediated Hydrogen Bond at a Conserved Protein-DNA Interface

2021-05-05

Abstract excerpt

<h4>ABSTRACT</h4> Male sex determination in mammals is initiated by SRY, a Y-encoded architectural transcription factor. The protein contains a high-mobility-group (HMG) box that mediates sequence-specific DNA bending. Mutations in SRY causing XY gonadal dysgenesis (Swyer syndrome) cluster in the box. Although such mutations usually arise de novo in spermatogenesis, some are inherited: male development occurs in...

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Literature Corpus work
460ebbc1-6d8a-505d-81e2-7eda1ea40e25
DOI
10.1101/2021.05.05.442830
Open publication

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Inherited Human Sex Reversal due to Loss of a Water-Mediated Hydrogen Bond at a Conserved Protein-DNA InterfaceDOI 10.1101/2021.05.05.442830
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