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A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.
- Source :
-
Molecular cell [Mol Cell] 2010 Apr 23; Vol. 38 (2), pp. 165-78. Date of Electronic Publication: 2010 Mar 25. - Publication Year :
- 2010
-
Abstract
- X-linked mental retardation (XLMR) is an inherited disorder that mostly affects males and is caused by mutations in genes located on the X chromosome. Here, we show that the XLMR protein PHF8 and a C. elegans homolog F29B9.2 catalyze demethylation of di- and monomethylated lysine 9 of histone H3 (H3K9me2/me1). The PHD domain of PHF8 binds to H3K4me3 and colocalizes with H3K4me3 at transcription initiation sites. Furthermore, PHF8 interacts with another XMLR protein, ZNF711, which binds to a subset of PHF8 target genes, including the XLMR gene JARID1C. Of interest, the C. elegans PHF8 homolog is highly expressed in neurons, and mutant animals show impaired locomotion. Taken together, our results functionally link the XLMR gene PHF8 to two other XLMR genes, ZNF711 and JARID1C, indicating that MR genes may be functionally linked in pathways, causing the complex phenotypes observed in patients developing MR.<br /> (Copyright 2010 Elsevier Inc. All rights reserved.)
- Subjects :
- Amino Acid Sequence
DNA-Binding Proteins genetics
Histone Demethylases genetics
Humans
Male
Methylation
Molecular Sequence Data
Mutation
Protein Binding genetics
Protein Structure, Tertiary genetics
Recombinant Proteins chemistry
Recombinant Proteins metabolism
Sequence Homology, Amino Acid
Transcription Factors chemistry
Transcription Factors genetics
DNA-Binding Proteins metabolism
Histone Demethylases metabolism
Mental Retardation, X-Linked genetics
Transcription Factors metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1097-4164
- Volume :
- 38
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Molecular cell
- Publication Type :
- Academic Journal
- Accession number :
- 20346720
- Full Text :
- https://doi.org/10.1016/j.molcel.2010.03.002