期刊
EPIGENOMICS
卷 1, 期 1, 页码 119-130出版社
FUTURE MEDICINE LTD
DOI: 10.2217/EPI.09.13
关键词
autism; chromatin; epigenetic; imprinting; MeCP2; methylation; Rett syndrome; X chromosome inactivation
资金
- NICHD NIH HHS [R01 HD041462-07, R01 HD048799, R01 HD048799-05, R01 HD041462] Funding Source: Medline
- NIEHS NIH HHS [R01 ES015171, R01 ES015171-03] Funding Source: Medline
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [R01HD041462, R01HD048799] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES [R01ES015171] Funding Source: NIH RePORTER
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.
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