MECP2 is highly mutated in X-linked mental retardation

Human Molecular Genetics

Volumn 10, Issue 9, 2001, Pages 941-946

  Couvert, Philippe ^a   Bienvenu, Thierry ^a   Aquaviva, Cecile ^a   Poirier, Karine ^a   Moraine, Claude ^b   Gendrot, Chantal ^b   Verloes, Alain ^c   Andrès, Christian ^b   Le Fevre, Anne Celine ^a   Souville, Isabelle ^a   Steffann, Julie ^a   Des Portes, Vincent ^a   Ropers, Hans Hilger ^d   Yntema, Helger G ^e   Fryns, Jean Pierre ^f   Briault, Sylvain ^b   Chelly, Jamel ^a   Cherif, Beldjord ^a  

^a Université Paris Descartes   (France)

^b CHU BRETONNEAU   (France)

^c UNIVERSITY OF LIÈGE   (Belgium)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; DNA BINDING PROTEIN; GUANINE; TRINUCLEOTIDE;

ARTICLE; CHROMOSOME XQ; COHORT ANALYSIS; CONTROLLED STUDY; CPG ISLAND; FAMILY; FRAGILE X SYNDROME; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUTATION RATE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT; X CHROMOSOME LINKAGE;

EID: 0035870846     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.9.941     Document Type: Article

References (29)

1. Purification, sequence and cellular localisation of a novel chromosomal protein that binds to methylated DNA
2. A complex pattern of evolutionary conservation and alternative poly-adenylation within the long 3′-untranslated region of the methyl-CpG-binding protein 2 gene (MECP2) suggests a regulatory role in gene expression
3. Dissection of the methyl-CpG-binding domain from the chromosome protein MeCP2
4. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacethylase complex
5. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
6. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
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