Abstract
Significant neurological disorders can result from subtle perturbations of gene regulation that are often linked to epigenetic regulation. Proteins that regulate the methylation of lysine 4 of histone H3 (H3K4) and play a central role in epigenetic regulation, and mutations in genes encoding these enzymes have been identified in both autism and Rett syndrome. The H3K4 demethylases remove methyl groups from lysine 4 leading to loss of RNA polymerase binding and transcriptional repression. When these proteins are mutated, brain development is altered. Currently, little is known regarding how these gene regulators function at the genomic level. In this article, we will discuss findings that link H3K4 demethylases to neurodevelopment and neurological disease.
MeSH terms
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Autistic Disorder / genetics
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DNA-Directed RNA Polymerases / metabolism
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Epigenesis, Genetic / physiology*
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Gene Expression Regulation, Developmental / physiology*
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Histone Demethylases / metabolism*
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Histones / metabolism*
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Humans
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Jumonji Domain-Containing Histone Demethylases / metabolism
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Lysine / metabolism*
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Minor Histocompatibility Antigens
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Nervous System Diseases / enzymology
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Nervous System Diseases / metabolism*
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Nuclear Proteins / metabolism
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Oxidoreductases, N-Demethylating / metabolism
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Repressor Proteins / metabolism
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Rett Syndrome / genetics
Substances
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Histones
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Minor Histocompatibility Antigens
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Nuclear Proteins
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Repressor Proteins
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Histone Demethylases
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Jumonji Domain-Containing Histone Demethylases
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KDM5B protein, human
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KDM5C protein, human
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KDM5D protein, human
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KDM1A protein, human
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Oxidoreductases, N-Demethylating
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DNA-Directed RNA Polymerases
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Lysine