The University of Southampton
University of Southampton Institutional Repository

Histone modification defects in developmental disorders and cancer

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
1949-2553
3-4
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
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), 3-4. (PMID:22287508)

Record type: Article

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

This record has no associated files available for download.

More information

Published date: January 2011
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 334308
URI: http://eprints.soton.ac.uk/id/eprint/334308
ISSN: 1949-2553
PURE UUID: 750ca17b-a18b-4ec5-bfa7-f68de8cd5d0e
ORCID for Nicholas C.P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

Catalogue record

Date deposited: 07 Mar 2012 11:54
Last modified: 23 Jul 2022 01:49

Export record

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×