The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

被引：771

作者：

Crisponi, L

Deiana, M

Loi, A

Chiappe, F

Uda, M

Amati, P

Bisceglia, L

Zelante, L

Nagaraja, R

Porcu, S

Ristaldi, MS

Marzella, R

Rocchi, M

Nicolino, M

Lienhardt-Roussie, A

Nivelon, A

Verloes, A

Schlessinger, D

Gasparini, P

Bonneau, D

Cao, A

Pilia, G ^{[1
]}

机构：

[1] Univ Cagliari, CNR, Ist Ric Talassemie & Anemie Mediterranee, Cagliari, Italy

[2] Univ Cagliari, Osped Reg Microcitemie, Dipartimento Sci Biomed & Biotecnol, Cagliari, Italy

[3] Ctr Hosp Univ Poitiers, Serv Genet Med, Poitiers, France

[4] Osped CSS, IRCCS, Serv Genet Med, I-71013 San Giovanni Rotondo, Italy

[5] NIA, Genet Lab, Baltimore, MD 21224 USA

[6] Univ Bari, DAPEG, Sezione Genet, Bari, Italy

[7] Hop Debrousse, Serv Endocrinol Pediat, Lyon, France

[8] Ctr Hosp Univ Limoges, Serv Pediat, Limoges, France

[9] Ctr Hosp Univ Dijion, Serv Genet, Dijon, France

[10] Univ Liege, Wallonia Ctr Human Genet, Liege, Belgium

来源：

NATURE GENETICS | 2001年 / 27卷 / 02期

关键词：

D O I：

10.1038/84781

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：159 / 166

页数：8

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