The genetic and molecular basis of congenital eye defects

被引：166

作者：

Graw, J ^{[1
]}

机构：

[1] GSF, Natl Res Ctr Environm & Hlth, Inst Dev Genet, D-85764 Neuherberg, Germany

来源：

NATURE REVIEWS GENETICS | 2003年 / 4卷 / 11期

关键词：

D O I：

10.1038/nrg1202

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

The mature eye is a complex organ that develops through a highly organized process during embryogenesis. Alterations in its genetic programming can lead to severe disorders that become apparent at birth or shortly afterwards; for example, one-half of the cases of blindness in children have a genetic cause. This review outlines the genetic basis of eye development, as determined by mutation analysis in patients and in model organisms. A better understanding of how this intricate organ develops at the genetic and cellular level is central to our understanding of the pathologies that afflict it.

引用

页码：876 / 888

页数：13

共 146 条

[1]

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family [J].

Abdelhak, S ;

Kalatzis, V ;

Heilig, R ;

Compain, S ;

Samson, D ;

Vincent, C ;

Weil, D ;

Cruaud, C ;

Sahly, I ;

Leibovici, M ;

BitnerGlindzicz, M ;

Francis, M ;

Lacombe, D ;

Vigneron, J ;

Charachon, R ;

Boven, K ;

Bedbeder, P ;

VanRegemorter, N ;

Weissenbach, J ;

Petit, C .

NATURE GENETICS, 1997, 15 (02) :157-164

[2]

Acampora D, 1997, DEVELOPMENT, V124, P3639

[3]

PAX2 mutations in renal-coloboma syndrome:: mutational hotspot and germline mosaicism [J].

Amiel, J ;

Audollent, S ;

Joly, D ;

Dureau, P ;

Salomon, R ;

Tellier, AL ;

Augé, J ;

Bouissou, F ;

Antignac, C ;

Gubler, MC ;

Eccles, MR ;

Munnich, A ;

Vekemans, M ;

Lyonnet, S ;

Attié-Bitach, T .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (11) :820-826

[4]

Pax6 lights-up the way for eye development [J].

Ashery-Padan, R ;

Gruss, P .

CURRENT OPINION IN CELL BIOLOGY, 2001, 13 (06) :706-714

[5]

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies [J].

Azuma, N ;

Hirakiyama, A ;

Inoue, T ;

Asaka, A ;

Yamada, M .

HUMAN MOLECULAR GENETICS, 2000, 9 (03) :363-366

[6]

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations [J].

Azuma, N ;

Yamaguchi, Y ;

Handa, H ;

Tadokoro, K ;

Asaka, A ;

Kawase, E ;

Yamada, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (06) :1565-1570

[7]

Defining a link between gap junction communication, proteolysis, and cataract formation [J].

Baruch, A ;

Greenbaum, D ;

Levy, ET ;

Nielsen, PA ;

Gilula, NB ;

Kumar, NM ;

Bogyo, M .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (31) :28999-29006

[8]

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q [J].

Berry, V ;

Francis, P ;

Kaushal, S ;

Moore, A ;

Bhattacharya, S .

NATURE GENETICS, 2000, 25 (01) :15-17

[9]

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin [J].

Berry, V ;

Mackay, D ;

Khaliq, S ;

Francis, PJ ;

Hameed, A ;

Anwar, K ;

Mehdi, SQ ;

Newbold, RJ ;

Ionides, A ;

Shiels, A ;

Moore, T ;

Bhattacharya, SS .

HUMAN GENETICS, 1999, 105 (1-2) :168-170

[10]

Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans [J].

Berry, V ;

Francis, P ;

Reddy, MA ;

Collyer, D ;

Vithana, E ;

MacKay, I ;

Dawson, G ;

Carey, AH ;

Moore, A ;

Bhattacharya, SS ;

Quinlan, RA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :1141-1145

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