Histone modification defects in developmental disorders and cancer

Cross, Nicholas C.P. (2011) Histone modification defects in developmental disorders and cancer Oncotarget, 3, (1), pp. 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 (print)
Related URLs:
Organisations: Human Development & Health
ePrint ID: 334308
Date :
Date Event
January 2011Published
Date Deposited: 07 Mar 2012 11:54
Last Modified: 17 Apr 2017 17:27
Further Information:Google Scholar
URI: http://eprints.soton.ac.uk/id/eprint/334308

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