Methyl-CpG-binding protein 2 mutations in Rett syndrome

被引：87

作者：

Van den Veyver, IB

Zoghbi, HY

机构：

[1] Baylor Coll Med, Howard Hughes Med Inst, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Obstet & Gynecol, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2000年 / 10卷 / 03期

关键词：

D O I：

10.1016/S0959-437X(00)00083-6

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The X-linked methyl-CpG-binding protein 2 gene (MECP2) encodes a protein that links DNA methylation to transcriptional repression mediated by histone deacetylases. Mutations in MECP2 have been found in 76% of classic Rett syndrome patients. Favourable nonrandom X chromosome inactivation ameliorates the phenotype.

引用

页码：275 / 279

页数：5

共 47 条

[1] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, RE
Van den Veyver, IB
Wan, M
Tran, CQ
Francke, U
Zoghbi, HY
[J]. NATURE GENETICS, 1999, 23 (02) : 185 - 188
[2] AMIR RE, 2000, IN PRESS ANN NEUROL
[3] [Anonymous], 1993, Human gene mutation
[4] ANVRET M, 1994, CLIN GENET, V45, P274
[5] SELECTIVE DENDRITIC ALTERATIONS IN THE CORTEX OF RETT-SYNDROME
ARMSTRONG, D
DUNN, JK
ANTALFFY, B
TRIVEDI, R
[J]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1995, 54 (02) : 195 - 201
[6] Transcriptional control: Repression by local chromatin modification
Ashraf, SI
Ip, YT
[J]. CURRENT BIOLOGY, 1998, 8 (19) : R683 - R686
[7] MICROSCOPIC OBSERVATIONS OF THE BRAIN IN RETT-SYNDROME
BAUMAN, ML
KEMPER, TL
ARIN, DM
[J]. NEUROPEDIATRICS, 1995, 26 (02) : 105 - 108
[8] Methylation-induced repression - Belts, braces, and chromatin
Bird, AP
Wolffe, AP
[J]. CELL, 1999, 99 (05) : 451 - 454
[9] Budden SS, 1997, EUR CHILD ADOLES PSY, V6, P103
[10] X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe
Camus, P
Abbadi, N
Perrier, MC
Chery, M
Gilgenkrantz, S
[J]. HUMAN GENETICS, 1996, 97 (02) : 247 - 250

← 1 2 3 4 5 →