[en] 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.
Disciplines :
Human health sciences: Multidisciplinary, general & others
Author, co-author :
Biason-Lauber, Anna
Konrad, Daniel
Meyer, Monika
De Beaufort, Carine ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Schoenle, Eugen J.
External co-authors :
yes
Language :
English
Title :
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
Publication date :
2009
Journal title :
American Journal of Human Genetics
ISSN :
1537-6605
Publisher :
University of Chicago Press, United States - Illinois