Histone Acetylation and Disease


Acetylation of nucleosomal core histones plays a key regulatory role in many physiological processes such as proliferation and differentiation. Aberrant acetylation or deacetylation of histones leads to severe human diseases such as leukemia, epithelial cancers, fragile X‐syndrome and Rubinstein–Taybi syndrome.

Keywords: histone acetyltransferase; histone deacetylase; histone, chromatin; leukemia

Figure 1.

Mode of action of histone acetyltransferases (HAT) enzymes. At the level of gene promoter sequences, HAT can acetylate histones in nucleosomes (depicted by white cylinders), as well as nonhistone proteins such as proteins of the RNA polymerase complex (RNA pol II), sequence‐specific transcription factors (TF) or cofactors. Arrows represent enzymatic activity. Ac: acetyl group; RNA: ribonucleic acid polymerase II; TF: transcription factors.



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Web Links

CREBBP, (CREB binding protein (Rubinstein–Taybi syndrome)); Locus ID: 1387. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1387

FMR1 (fragile X mental retardation 1); Locus ID: 2332. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2332

MECP2 (methyl CpG binding protein 2 (Rett syndrome)); Locus ID: 4204. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4204

SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4); Locus ID: 6597. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6597

TP53 (tumor protein p53 (Li–Fraumeni syndrome)); Locus ID: 7157. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7157

CREBBP (CREB binding protein (Rubinstein–Taybi syndrome)); MIM number: 600140. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?600140

FMR1 (fragile X mental retardation 1); MIM number: 309550. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?309550

MECP2 (methyl CpG binding protein 2 (Rett syndrome)); MIM number: 300005. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?300005

SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4); MIM number: 603254. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?603254

TP53 (tumor protein p53 (Li–Fraumeni syndrome)); MIM number: 191170. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?191170

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Harel‐Bellan, Annick, Guasconi, Valentina, Fritsch, Lauriane, Sekhri, Redha, Lehrmann, Heike, and Ait‐Si‐Ali, Slimane(Jan 2006) Histone Acetylation and Disease. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006032]