Publication year
2012Author(s)
Source
Nature Genetics, 44, 6, (2012), pp. 639-41ISSN
Annotation
01 juni 2012
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Human Genetics
Health Evidence
Former Organization
Epidemiology, Biostatistics & HTA
Journal title
Nature Genetics
Volume
vol. 44
Issue
iss. 6
Page start
p. 639
Page end
p. 41
Subject
IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 3: Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory; IGMD 9: Renal disorder; NCEBP 2: Evaluation of complex medical interventions; NCMLS 6: Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory; NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disordersAbstract
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.
This item appears in the following Collection(s)
- Academic publications [227881]
- Faculty of Medical Sciences [86219]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.