Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene

被引：125

作者：

Biason-Lauber, Anna ^{[1
,2
]}

Konrad, Daniel ^{[1
,2
]}

Meyer, Monika ^{[1
]}

DeBeaufort, Carine ^{[3
]}

Schoenle, Eugen J. ^{[1
,2
]}

机构：

[1] Univ Childrens Hosp, Div Endocrinol Diabetol, Toronto, ON, Canada

[2] Zurich Ctr Integrat Human Physiol, CH-8032 Zurich, Switzerland

[3] Clin Pediat Luxembourg, Div Pediat Endocrinol, L-1210 Luxembourg, Luxembourg

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2009年 / 84卷 / 05期

基金：

瑞士国家科学基金会;

关键词：

POLYCOMB-GROUP GENE; SEX DETERMINATION; RESPONSE ELEMENTS; DROSOPHILA; EXPRESSION; DIFFERENTIATION; ACTIVATION; REVERSAL; MOUSE; SOX9;

D O I：

10.1016/j.ajhg.2009.03.016

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：658 / 663

页数：6

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