The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
复制标题
DOI：
10.1038/84781
复制
发表时间：
2001-02-01
期刊：
影响因子：
30.8
通讯作者：
Pilia, G
中科院分区：
文献类型：
--
作者：
Crisponi, L;Deiana, M;Pilia, G
在I型眼睑下垂/上睑下垂/内眦赘肉综合征（BPES）中，眼睑异常与卵巢功能衰竭有关。II型BPES仅显示眼睑缺陷，但两种类型都映射到染色体3q23。我们对一部小说进行了定位克隆。假定的翼螺旋/叉头转录因子基因，FOXL2，突变后在I型家族中产生截断蛋白，在II型家族中产生更大的蛋白。FOXL2在发育中的小鼠眼睑和成年卵巢卵泡的间质中选择性表达，与这些组织的参与一致；在成年人中，它主要出现在卵巢。FOXL2是投票/双性人综合症XX山羊的候选基因。
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel. putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.