Journal
NATURE GENETICS
Volume 44, Issue 6, Pages 639-641Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2262
Keywords
-
Categories
Funding
- Dutch Brain Foundation [KS 2012(1)-119]
- Netherlands Organization for Health Research and Development (ZonMW) [917-66-363, 911-08-025, 916-86-016, 917-96-346, 917-86-319]
- European Union- [Health-F5-2009-223143]
- AnEUploidy [LSHG-CT-2006-37627]
- GENCODYS [HEALTH-F4-2010-241995]
Ask authors/readers for more resources
We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The KANSL1 protein is an evolutionarily conserved regulator of the chromatin modifier KAT8, which influences gene expression through histone H4 lysine 16 (H4K16) acetylation. RNA sequencing studies in cell lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for KANSL1 in neuronal processes.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available