A fork in the road to fertility

被引：43

作者：

Prueitt, RL ^{[1
]}

Zinn, AR ^{[1
]}

机构：

[1] Univ Texas, SW Med Sch, McDermott Ctr Human Growth & Dev, Dallas, TX 75390 USA

来源：

NATURE GENETICS | 2001年 / 27卷 / 02期

关键词：

D O I：

10.1038/84735

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Haploinsufficiency of FOXL2, a new forkhead transcription factor, causes blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a rare developmental disorder affecting the eyelid and sometimes the ovary. A new study implicates FOXL2 as the first human gene required for the maintenance of ovarian follicles, The discovery of FOXL2 may provide insight into the causes of idiopathic premature ovarian failure, a disease that burdens many infertile couple.

引用

页码：132 / 134

页数：3

共 16 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] The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
Bennett, CL
Christie, J
Ramsdell, F
Brunkow, ME
Ferguson, PJ
Whitesell, L
Kelly, TE
Saulsbury, FT
Chance, PF
Ochs, HD
[J]. NATURE GENETICS, 2001, 27 (01) : 20 - 21
[3] JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
Chatila, TA
Blaeser, F
Ho, N
Lederman, HM
Voulgaropoulos, C
Helms, C
Bowcock, AM
[J]. JOURNAL OF CLINICAL INVESTIGATION, 2000, 106 (12) : R75 - R81
[4] Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
Clifton-Bligh, RJ
Wentworth, JM
Heinz, P
Crisp, MS
John, R
Lazarus, JH
Ludgate, M
Chatterjee, VK
[J]. NATURE GENETICS, 1998, 19 (04) : 399 - 401
[5] The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
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
[J]. NATURE GENETICS, 2001, 27 (02) : 159 - 166
[6] Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES
De Baere, E
Fukushima, Y
Small, K
Udar, N
Van Camp, G
Verhoeven, K
Palotie, A
De Paepe, A
Messiaen, L
[J]. GENOMICS, 2000, 68 (03) : 296 - 304
[7] Closing in an the BPES gene on 3q23:: Mapping of a de nova reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and β′-COP, distal to the breakpoint
De Baere, E
Van Roy, N
Speleman, F
Fukushima, Y
De Paepe, A
Messiaen, L
[J]. GENOMICS, 1999, 57 (01) : 70 - 78
[8] Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
Fang, JM
Dagenais, SL
Erickson, RP
Arlt, MF
Glynn, MW
Gorski, JL
Seaver, LH
Glover, TW
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) : 1382 - 1388
[9] FRASER IS, 1988, FERTIL STERIL, V50, P747
[10] Position effect in human genetic disease
Kleinjan, DJ
van Heyningen, V
[J]. HUMAN MOLECULAR GENETICS, 1998, 7 (10) : 1611 - 1618

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