학술논문
An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality
Document Type
Article
Author
Ferrer, Christina M.; Alders, Marielle; Postma, Alex V.; Park, Seonmi; Klein, Mark A.; Cetinbas, Murat; Pajkrt, Eva; Glas, Astrid; van Koningsbruggen, Silvana; Christoffels, Vincent M.; Mannens, Marcel M.A.M.; Knegt, Lia; Etchegaray, Jean-Pierre; Sadreyev, Ruslan I.; Denu, John M.; Mostoslavsky, Gustavo; van Maarle, Merel C.; Mostoslavsky, Raul
Source
Genes & Development; 2018, Vol. 32 Issue: 5-6 p373-388, 16p
Subject
Language
ISSN
08909369; 15495477
Abstract
Ferrer et al. demonstrate that a homozygous inactivating mutation in the histone deacetylase SIRT6 results in severe congenital anomalies and perinatal lethality in four affected fetuses. Human induced pluripotent stem cells derived from D63H homozygous fetuses fail to differentiate into embryoid bodies, functional cardiomyocytes, and neural progenitor cells due to a failure to repress pluripotent genes.