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
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
收藏
页码:275 / 279
页数:5
相关论文
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