Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 84, Issue 5, Pages 658-663Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2009.03.016
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Funding
- University of Zurich [54181801]
- Swiss National Science Foundation [32-116636]
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A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex reversal. The analysis of the human homolog of M33, Chromobox homolog 2 (CBX2), in this girl revealed loss-of-function mutations that allowed us, by placing CBX2 upstream of SRY, to add an additional component to the still incomplete cascade of human sex development.
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