Histone modification defects in developmental disorders and cancer

Cross, Nicholas C.P. (2011) Histone modification defects in developmental disorders and cancer. Oncotarget, 3, (1), 3-4. (PMID:22287508).


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Clinically, Weaver syndrome is closely related to Sotos syndrome, which is frequently caused by mutations in NSD1. This gene also encodes a histone methyltransferase, in this case with activity against histone H3 lysine 36. NSD1 is mutated in carcinoma of the upper aerodigestive tract (www.sanger.ac.uk/genetics/CGP/cosmic/) and also fuses to NUP98 in acute myeloid leukemia. Looking more widely, whole exome screens in lymphoma, multiple myeloma, renal carcinoma and other malignancies have identified genes encoding diverse histone modifiers as targets of somatic mutation. Strikingly, several of these (e.g. MLL2, EP300, CREBBP, ASXL1) are also mutated in human developmental disorders thus pointing towards a remarkable and unexpected convergence between somatic and germline genetics

Item Type: Article
ISSNs: 1949-2553
Related URLs:
Subjects: Q Science > QH Natural history > QH426 Genetics
Divisions : Faculty of Medicine > Human Development and Health
ePrint ID: 334308
Accepted Date and Publication Date:
January 2011Published
Date Deposited: 07 Mar 2012 11:54
Last Modified: 31 Mar 2016 14:24
URI: http://eprints.soton.ac.uk/id/eprint/334308

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