Histone modification defects in developmental disorders and cancer
Histone modification defects in developmental disorders and cancer
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
3-4
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
January 2011
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Cross, Nicholas C.P.
(2011)
Histone modification defects in developmental disorders and cancer.
Oncotarget, 3 (1), .
(PMID:22287508)
Abstract
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
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Published date: January 2011
Organisations:
Human Development & Health
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Local EPrints ID: 334308
URI: http://eprints.soton.ac.uk/id/eprint/334308
ISSN: 1949-2553
PURE UUID: 750ca17b-a18b-4ec5-bfa7-f68de8cd5d0e
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Date deposited: 07 Mar 2012 11:54
Last modified: 23 Jul 2022 01:49
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