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Mental Retardation Clue
Tracy Hampton, PhD
JAMA. 2007;297:2339.
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| Since this article does not have an abstract, we have provided the first 130 words of the full text and any section headings. |
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Researchers at Brigham and Women's Hospital and Harvard Medical School, in Boston, and the University of Florida College of Medicine, in Gainesville, have recently deciphered how a protein called SMCX previously implicated in mental retardation may contribute to the development of the disease (Tahiliani M et al. Nature. doi:10.1038/nature05823 [published online ahead of print April 29, 2007]).
SMCX modifies histones that package DNA into chromatin to form chromosomes. Specifically, the protein removes trimethyl groups from a particular histone (H3) and represses transcription of certain neuronal genes.
The gene encoding SMCX is frequently mutated in X-linked mental retardation, in which defects in genes on the X chromosome are inherited. Therefore, the investigators hypothesize that mutations in SMCX may contribute to disease by impairing regulation of neuronal genes.
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