Human genetics: Methylation moves into medicine

被引：16

作者：

Hendrich, B ^{[1
]}

机构：

[1] Univ Edinburgh, Inst Cell & Mol Biol, Edinburgh EH9 3JR, Midlothian, Scotland

来源：

CURRENT BIOLOGY | 2000年 / 10卷 / 02期

关键词：

D O I：

10.1016/S0960-9822(00)00286-4

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Two human genetic diseases have recently been shown to be due to mutations in genes encoding proteins involved in DNA methylation. The phenotypes of these two diseases are surprisingly distinct from each other and provide insights into the functions of DNA methylation in mammals.

引用

页码：R60 / R63

页数：4

共 17 条

[1] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J].

Amir, RE ;

Van den Veyver, IB ;

Wan, M ;

Tran, CQ ;

Francke, U ;

Zoghbi, HY .

NATURE GENETICS, 1999, 23 (02) :185-188

[2]

Engerström IW, 1998, BRAIN DEV-JPN, V20, P323

[3] A PROGRESSIVE SYNDROME OF AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE IN GIRLS - RETTS SYNDROME - REPORT OF 35 CASES [J].

HAGBERG, B ;

AICARDI, J ;

DIAS, K ;

RAMOS, O .

ANNALS OF NEUROLOGY, 1983, 14 (04) :471-479

[4] The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome [J].

Hansen, RS ;

Wijmenga, C ;

Luo, P ;

Stanek, AM ;

Canfield, TK ;

Weemaes, CMR ;

Gartler, SM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (25) :14412-14417

[5] AN EMBRYONIC-LIKE METHYLATION PATTERN OF CLASSICAL SATELLITE DNA IS OBSERVED IN ICF SYNDROME [J].

JEANPIERRE, M ;

TURLEAU, C ;

AURIAS, A ;

PRIEUR, M ;

LEDEIST, F ;

FISCHER, A ;

VIEGASPEQUIGNOT, E .

HUMAN MOLECULAR GENETICS, 1993, 2 (06) :731-735

[6] RETTS SYNDROME IN THE WEST OF SCOTLAND [J].

KERR, AM ;

STEPHENSON, JBP .

BRITISH MEDICAL JOURNAL, 1985, 291 (6495) :579-582

[7] TARGETED MUTATION OF THE DNA METHYLTRANSFERASE GENE RESULTS IN EMBRYONIC LETHALITY [J].

LI, E ;

BESTOR, TH ;

JAENISCH, R .

CELL, 1992, 69 (06) :915-926

[8] IMMUNODEFICIENCY, CENTROMERIC HETEROCHROMATIN INSTABILITY OF CHROMOSOMES 1, 9, AND 16, AND FACIAL ANOMALIES - THE ICF SYNDROME [J].

MARASCHIO, P ;

ZUFFARDI, O ;

DALLAFIOR, T ;

TIEPOLO, L .

JOURNAL OF MEDICAL GENETICS, 1988, 25 (03) :173-180

[9] MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin [J].

Nan, XS ;

Campoy, FJ ;

Bird, A .

CELL, 1997, 88 (04) :471-481

[10] DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development [J].

Okano, M ;

Bell, DW ;

Haber, DA ;

Li, E .

CELL, 1999, 99 (03) :247-257

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