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chromatin remodeling diseases

Thursday 20 November 2003

Syndromes of disordered chromatin remodeling arise from a general deregulation of DNA transcription caused by mutations in genes encoding enzymes which mediate changes in chromatin structure.

Chromatin is the packaged form of DNA in the eukaryotic cell. It consists almost entirely of repeating units, called nucleosomes, in which short segments of DNA are wrapped tightly around a disk-like structure comprising two subunits of each of the histone proteins H2A, H2B, H3 and H4.

Histone proteins are covalently modified by a number of different adducts (i.e. acetylation and phosphorylation) that regulate the tightness of the DNA-histone interactions.

Mutations in genes encoding enzymes that mediate chromatin structure can result in a loss of proper regulation of chromatin structure, which in turn can result in deregulation of gene transcription and inappropriate protein expression.


- X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)
- Rett syndrome
- immunodeficiency-centromeric instability-facial anomalies syndrome (ICF)
- Rubinstein-Taybi syndrome
- Coffin-Lowry syndrome
- Cancer (17822958 and 17822959)



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- Wang GG, Allis CD, Chi P. Chromatin remodeling and cancer, Part II: ATP-dependent chromatin remodeling.Trends Mol Med. 2007 Sep;13(9):373-80. PMID: 17822959

- Gibbons RJ. Histone modifying and chromatin remodelling enzymes in cancer and dysplastic syndromes. Hum Mol Genet. 2005 Apr 15;14 Spec No 1:R85-92. PMID: 15809277

- Cho KS, Elizondo LI, Boerkoel CF. Advances in chromatin remodeling and human disease. Curr Opin Genet Dev. 2004 Jun;14(3):308-15. PMID: 15172675

- Bickmore WA, van der Maarel SM. Perturbations of chromatin structure in human genetic disease: recent advances. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R207-13. PMID: 12915455

- Ausio J, Levin DB, De Amorim GV, Bakker S, Macleod PM. Syndromes of disordered chromatin remodeling. Clin Genet. 2003 Aug;64(2):83-95. PMID: 12859401