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

Laura Crisponi, Manila Deiana, Angela Loi, Francesca Chiappe, Manuela Uda, Patrizia Amati, Luigi Bisceglia, Leopoldo Zelante, Ramaiah Nagaraja, Susanna Porcu, M. Serafina Ristaldi, Rosalia Marzella, Mariano Rocchi, Marc Nicolino, Anne Lienhardt-Roussie, Annie Nivelon, Alain Verloes, David Schlessinger, Paolo Gasparini, Dominique BonneauAntonio Cao, Giuseppe Pilia

Research output: Contribution to journalArticle

711 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)159-166
Number of pages8
JournalNature Genetics
Volume27
Issue number2
DOIs
Publication statusPublished - 2001

Fingerprint

Forkhead Transcription Factors
Eyelids
46, XX Testicular Disorders of Sex Development
Winged-Helix Transcription Factors
Ovarian Follicle
Mesoderm
Goats
Genes
Ovary
Proteins
Chromosomes
Blepharophimosis, Ptosis, and Epicanthus Inversus

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Crisponi, L., Deiana, M., Loi, A., Chiappe, F., Uda, M., Amati, P., ... Pilia, G. (2001). The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nature Genetics, 27(2), 159-166. https://doi.org/10.1038/84781

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. / Crisponi, Laura; Deiana, Manila; Loi, Angela; Chiappe, Francesca; Uda, Manuela; Amati, Patrizia; Bisceglia, Luigi; Zelante, Leopoldo; Nagaraja, Ramaiah; Porcu, Susanna; Serafina Ristaldi, M.; Marzella, Rosalia; Rocchi, Mariano; Nicolino, Marc; Lienhardt-Roussie, Anne; Nivelon, Annie; Verloes, Alain; Schlessinger, David; Gasparini, Paolo; Bonneau, Dominique; Cao, Antonio; Pilia, Giuseppe.

In: Nature Genetics, Vol. 27, No. 2, 2001, p. 159-166.

Research output: Contribution to journalArticle

Crisponi, L, Deiana, M, Loi, A, Chiappe, F, Uda, M, Amati, P, Bisceglia, L, Zelante, L, Nagaraja, R, Porcu, S, Serafina Ristaldi, M, Marzella, R, Rocchi, M, Nicolino, M, Lienhardt-Roussie, A, Nivelon, A, Verloes, A, Schlessinger, D, Gasparini, P, Bonneau, D, Cao, A & Pilia, G 2001, 'The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome', Nature Genetics, vol. 27, no. 2, pp. 159-166. https://doi.org/10.1038/84781
Crisponi, Laura ; Deiana, Manila ; Loi, Angela ; Chiappe, Francesca ; Uda, Manuela ; Amati, Patrizia ; Bisceglia, Luigi ; Zelante, Leopoldo ; Nagaraja, Ramaiah ; Porcu, Susanna ; Serafina Ristaldi, M. ; Marzella, Rosalia ; Rocchi, Mariano ; Nicolino, Marc ; Lienhardt-Roussie, Anne ; Nivelon, Annie ; Verloes, Alain ; Schlessinger, David ; Gasparini, Paolo ; Bonneau, Dominique ; Cao, Antonio ; Pilia, Giuseppe. / The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. In: Nature Genetics. 2001 ; Vol. 27, No. 2. pp. 159-166.
@article{da5431df96824a16960e042230c911c1,
title = "The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome",
abstract = "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.",
author = "Laura Crisponi and Manila Deiana and Angela Loi and Francesca Chiappe and Manuela Uda and Patrizia Amati and Luigi Bisceglia and Leopoldo Zelante and Ramaiah Nagaraja and Susanna Porcu and {Serafina Ristaldi}, M. and Rosalia Marzella and Mariano Rocchi and Marc Nicolino and Anne Lienhardt-Roussie and Annie Nivelon and Alain Verloes and David Schlessinger and Paolo Gasparini and Dominique Bonneau and Antonio Cao and Giuseppe Pilia",
year = "2001",
doi = "10.1038/84781",
language = "English",
volume = "27",
pages = "159--166",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "2",

}

TY - JOUR

T1 - The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

AU - Crisponi, Laura

AU - Deiana, Manila

AU - Loi, Angela

AU - Chiappe, Francesca

AU - Uda, Manuela

AU - Amati, Patrizia

AU - Bisceglia, Luigi

AU - Zelante, Leopoldo

AU - Nagaraja, Ramaiah

AU - Porcu, Susanna

AU - Serafina Ristaldi, M.

AU - Marzella, Rosalia

AU - Rocchi, Mariano

AU - Nicolino, Marc

AU - Lienhardt-Roussie, Anne

AU - Nivelon, Annie

AU - Verloes, Alain

AU - Schlessinger, David

AU - Gasparini, Paolo

AU - Bonneau, Dominique

AU - Cao, Antonio

AU - Pilia, Giuseppe

PY - 2001

Y1 - 2001

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0035131812&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035131812&partnerID=8YFLogxK

U2 - 10.1038/84781

DO - 10.1038/84781

M3 - Article

C2 - 11175783

AN - SCOPUS:0035131812

VL - 27

SP - 159

EP - 166

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 2

ER -