Evolving role of MeCP2 in Rett syndrome and autism

Janine M LaSalle, Dag H. Yasui

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

Rett syndrome is an X-linked autism-spectrum disorder caused by mutations in MECP2, encoding methyl CpG-binding protein 2. Since the discovery of MECP2 mutations as the genetic cause of Rett syndrome, the understanding of MeCP2 function has evolved. Although MeCP2 was predicted to be a global transcriptional repressor of methylated promoters, large-scale combined epigenomic approaches of MeCP2 binding, methylation and gene expression have demonstrated that MeCP2 binds preferentially to intergenic and intronic regions, and sparsely methylated promoters of active genes. This review compares the evolution of thought within two 'classic' epigenetic mechanisms of parental imprinting and X chromosome inactivation to that of the MeCP2 field, and considers the future relevance of integrated epigenomic databases to understanding autism and Rett syndrome.

Original languageEnglish (US)
Pages (from-to)119-130
Number of pages12
JournalEpigenomics
Volume1
Issue number1
DOIs
StatePublished - Oct 2009

Fingerprint

Rett Syndrome
Autistic Disorder
Epigenomics
Methyl-CpG-Binding Protein 2
Genomic Imprinting
X Chromosome Inactivation
Mutation
Intergenic DNA
Methylation
Databases
Gene Expression
Genes

Keywords

  • Autism
  • Chromatin
  • Epigenetic
  • Imprinting
  • MeCP2
  • Methylation
  • Rett syndrome
  • X chromosome inactivation

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

Cite this

Evolving role of MeCP2 in Rett syndrome and autism. / LaSalle, Janine M; Yasui, Dag H.

In: Epigenomics, Vol. 1, No. 1, 10.2009, p. 119-130.

Research output: Contribution to journalArticle

LaSalle, Janine M ; Yasui, Dag H. / Evolving role of MeCP2 in Rett syndrome and autism. In: Epigenomics. 2009 ; Vol. 1, No. 1. pp. 119-130.
@article{093c4e5843fd4cdbb7545772f59594de,
title = "Evolving role of MeCP2 in Rett syndrome and autism",
abstract = "Rett syndrome is an X-linked autism-spectrum disorder caused by mutations in MECP2, encoding methyl CpG-binding protein 2. Since the discovery of MECP2 mutations as the genetic cause of Rett syndrome, the understanding of MeCP2 function has evolved. Although MeCP2 was predicted to be a global transcriptional repressor of methylated promoters, large-scale combined epigenomic approaches of MeCP2 binding, methylation and gene expression have demonstrated that MeCP2 binds preferentially to intergenic and intronic regions, and sparsely methylated promoters of active genes. This review compares the evolution of thought within two 'classic' epigenetic mechanisms of parental imprinting and X chromosome inactivation to that of the MeCP2 field, and considers the future relevance of integrated epigenomic databases to understanding autism and Rett syndrome.",
keywords = "Autism, Chromatin, Epigenetic, Imprinting, MeCP2, Methylation, Rett syndrome, X chromosome inactivation",
author = "LaSalle, {Janine M} and Yasui, {Dag H.}",
year = "2009",
month = "10",
doi = "10.2217/epi.09.13",
language = "English (US)",
volume = "1",
pages = "119--130",
journal = "Epigenomics",
issn = "1750-1911",
publisher = "Future Medicine Ltd.",
number = "1",

}

TY - JOUR

T1 - Evolving role of MeCP2 in Rett syndrome and autism

AU - LaSalle, Janine M

AU - Yasui, Dag H.

PY - 2009/10

Y1 - 2009/10

N2 - Rett syndrome is an X-linked autism-spectrum disorder caused by mutations in MECP2, encoding methyl CpG-binding protein 2. Since the discovery of MECP2 mutations as the genetic cause of Rett syndrome, the understanding of MeCP2 function has evolved. Although MeCP2 was predicted to be a global transcriptional repressor of methylated promoters, large-scale combined epigenomic approaches of MeCP2 binding, methylation and gene expression have demonstrated that MeCP2 binds preferentially to intergenic and intronic regions, and sparsely methylated promoters of active genes. This review compares the evolution of thought within two 'classic' epigenetic mechanisms of parental imprinting and X chromosome inactivation to that of the MeCP2 field, and considers the future relevance of integrated epigenomic databases to understanding autism and Rett syndrome.

AB - Rett syndrome is an X-linked autism-spectrum disorder caused by mutations in MECP2, encoding methyl CpG-binding protein 2. Since the discovery of MECP2 mutations as the genetic cause of Rett syndrome, the understanding of MeCP2 function has evolved. Although MeCP2 was predicted to be a global transcriptional repressor of methylated promoters, large-scale combined epigenomic approaches of MeCP2 binding, methylation and gene expression have demonstrated that MeCP2 binds preferentially to intergenic and intronic regions, and sparsely methylated promoters of active genes. This review compares the evolution of thought within two 'classic' epigenetic mechanisms of parental imprinting and X chromosome inactivation to that of the MeCP2 field, and considers the future relevance of integrated epigenomic databases to understanding autism and Rett syndrome.

KW - Autism

KW - Chromatin

KW - Epigenetic

KW - Imprinting

KW - MeCP2

KW - Methylation

KW - Rett syndrome

KW - X chromosome inactivation

UR - http://www.scopus.com/inward/record.url?scp=78649632841&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78649632841&partnerID=8YFLogxK

U2 - 10.2217/epi.09.13

DO - 10.2217/epi.09.13

M3 - Article

C2 - 20473347

AN - SCOPUS:78649632841

VL - 1

SP - 119

EP - 130

JO - Epigenomics

JF - Epigenomics

SN - 1750-1911

IS - 1

ER -