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

被引：762
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
收藏
页码：159 / 166
页数：8
相关论文
共 54 条
  • [1] MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE
    AITTOMAKI, K
    LUCENA, JLD
    PAKARINEN, P
    SISTONEN, P
    TAPANAINEN, J
    GROMOLL, J
    KASKIKARI, R
    SANKILA, EM
    LEHVASLAIHO, H
    ENGEL, AR
    NIESCHLAG, E
    HUHTANIEMI, I
    DELACHAPELLE, A
    [J]. CELL, 1995, 82 (06) : 959 - 968
  • [2] Amati P, 1996, AM J HUM GENET, V58, P1089
  • [3] A GENE FOR BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME MAPS TO CHROMOSOME 3Q23
    AMATI, P
    CHOMEL, JC
    NIVELONCHEVALIER, A
    GILGENKRANTZ, S
    KITZIS, A
    KAPLAN, J
    BONNEAU, D
    [J]. HUMAN GENETICS, 1995, 96 (02) : 213 - 215
  • [4] HNF-3-BETA IS ESSENTIAL FOR NODE AND NOTOCHORD FORMATION IN MOUSE DEVELOPMENT
    ANG, SL
    ROSSANT, J
    [J]. CELL, 1994, 78 (04) : 561 - 574
  • [5] A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure:: Evidence for conserved function in oogenesis and implications for human sterility
    Bione, S
    Sala, C
    Manzini, C
    Arrigo, G
    Zuffardi, O
    Banfi, S
    Borsani, G
    Jonveaux, P
    Philippe, C
    Zuccotti, M
    Ballabio, A
    Toniolo, D
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) : 533 - 541
  • [6] Cellular Retinol Binding Protein 1 (RBP1): A frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene
    Bisceglia, L
    d'Ambrosio, L
    Piemontese, MR
    Carella, M
    Amati, P
    Bonneau, D
    Pilia, G
    Gasparini, P
    Zelante, L
    [J]. MOLECULAR AND CELLULAR PROBES, 1998, 12 (04) : 255 - 258
  • [7] BOCCIA M, 1994, S DAK REV, V32, P51
  • [8] A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse
    Nolan, PM
    Peters, J
    Strivens, M
    Rogers, D
    Hagan, J
    Spurr, N
    Gray, IC
    Vizor, L
    Brooker, D
    Whitehill, E
    Washbourne, R
    Hough, T
    Greenaway, S
    Hewitt, M
    Liu, XH
    McCormack, S
    Pickford, K
    Selley, R
    Wells, C
    Tymowska-Lalanne, Z
    Roby, P
    Glenister, P
    Thornton, C
    Thaung, C
    Stevenson, JA
    Arkell, R
    Mburu, P
    Hardisty, R
    Kiernan, A
    Erven, H
    Steel, KP
    Voegeling, S
    Guenet, JL
    Nickols, C
    Sadri, R
    Naase, M
    Isaacs, A
    Davies, K
    Browne, M
    Fisher, EMC
    Martin, J
    Rastan, S
    Brown, SDM
    Hunter, J
    [J]. NATURE GENETICS, 2000, 25 (04) : 440 - 443
  • [9] Chan JKC., 1996, Adv Anat Pathol, V3, P156
  • [10] A transcriptional partner for MAD proteins in TGF-beta signalling
    Chen, X
    Rubock, MJ
    Whitman, M
    [J]. NATURE, 1996, 383 (6602) : 691 - 696
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