MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region

被引：24
作者：
Vacca, M
Filippini, F
Budillon, A
Rossi, V
Della Ragione, F
De Bonis, ML
Mercadante, G
Manzati, E
Gualandi, F
Bigoni, S
Trabanelli, C
Pini, G
Calzolari, E
Ferlini, A
Meloni, I
Hayek, G
Zappella, M
Renieri, A
D'Urso, M
D'Esposito, M
Macdonald, F
Kerr, A
Dhanjal, S
Hulten, M
机构：
[1] CNR, Int Inst Genet & Biophys, I-80125 Naples, Italy
[2] Univ Padua, Dipartimento Biol, I-35100 Padua, Italy
[3] Univ Ferrara, Dipartimento Med Sperimentale & Diagnost, I-44100 Ferrara, Italy
[4] UO, Serv Neuropsichiat Infantile, Viareggio, Italy
[5] Univ Siena, Policlin Le Scotte, I-53100 Siena, Italy
[6] Reg Genet Serv, Birmingham B15 2TG, W Midlands, England
[7] Univ Glasgow, Gartnavel Royal Hosp, Dept Med Psychol, Acad Ctr, Glasgow G12, Lanark, Scotland
[8] Univ Warwick, Dept Biol Sci, Coventry CV4 7AL, W Midlands, England
来源：
BRAIN & DEVELOPMENT | 2001年 / 23卷
关键词：
Rett syndrome; MECP2; mutation analysis; recurrent mutations; bioinformatics; fork head;
D O I：
10.1016/S0387-7604(01)00343-6
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to be the most common genetic cause of profound combined intellectual and physical disability in Caucasian females. This syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of unknown target genes. We report a detailed mutational analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted us to produce a hot spot map of the mutations identified. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors. (C) 2001 Elsevier Science B.V. All rights reserved.
引用
收藏
页码：S246 / S250
页数：5
相关论文
共 21 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] The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
    Chandler, SP
    Guschin, D
    Landsberger, N
    Wolffe, AP
    [J]. BIOCHEMISTRY, 1999, 38 (22) : 7008 - 7018
  • [3] Long-read sequence analysis of the MECP2 gene in Rett syndrome patients:: correlation of disease severity with mutation type and location
    Cheadle, JP
    Gill, H
    Fleming, N
    Maynard, J
    Kerr, A
    Leonard, H
    Krawczak, M
    Cooper, DN
    Lynch, S
    Thomas, N
    Hughes, H
    Hulten, M
    Ravine, D
    Sampson, JR
    Clarke, A
    [J]. HUMAN MOLECULAR GENETICS, 2000, 9 (07) : 1119 - 1129
  • [4] A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3′-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression
    Coy, JF
    Sedlacek, Z
    Bächner, D
    Delius, H
    Poustka, A
    [J]. HUMAN MOLECULAR GENETICS, 1999, 8 (07) : 1253 - 1262
  • [5] Preserved speech variant is allelic of classic Rett syndrome
    De Bona, C
    Zappella, M
    Hayek, G
    Meloni, I
    Vitelli, F
    Bruttini, M
    Cusano, R
    Loffredo, P
    Longo, I
    Renieri, A
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (05) : 325 - 330
  • [6] Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2
    DEsposito, M
    Quaderi, NA
    Ciccodicola, A
    Bruni, P
    Esposito, T
    DUrso, M
    Brown, SDM
    [J]. MAMMALIAN GENOME, 1996, 7 (07) : 533 - 535
  • [7] Rett syndrome:: a surprising result of mutation in MECP2
    Dragich, J
    Houwink-Manville, I
    Schanen, C
    [J]. HUMAN MOLECULAR GENETICS, 2000, 9 (16) : 2365 - 2375
  • [8] A PROGRESSIVE SYNDROME OF AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE IN GIRLS - RETTS SYNDROME - REPORT OF 35 CASES
    HAGBERG, B
    AICARDI, J
    DIAS, K
    RAMOS, O
    [J]. ANNALS OF NEUROLOGY, 1983, 14 (04) : 471 - 479
  • [9] Identification and characterization of a family of mammalian methyl-CpG binding proteins
    Hendrich, B
    Bird, A
    [J]. MOLECULAR AND CELLULAR BIOLOGY, 1998, 18 (11) : 6538 - 6547
  • [10] Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
    Jones, PL
    Veenstra, GJC
    Wade, PA
    Vermaak, D
    Kass, SU
    Landsberger, N
    Strouboulis, J
    Wolffe, AP
    [J]. NATURE GENETICS, 1998, 19 (02) : 187 - 191
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