A genome-wide DNA methylation signature for SETD1B-related syndrome.
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ABSTRACT:
SUBMITTER: Krzyzewska IM
PROVIDER: S-EPMC6830011 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Publications
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska I M IM Maas S M SM Henneman P P Lip K V D KVD Venema A A Baranano K K Chassevent A A Aref-Eshghi E E van Essen A J AJ Fukuda T T Ikeda H H Jacquemont M M Kim H-G HG Labalme A A Lewis S M E SME Lesca G G Madrigal I I Mahida S S Matsumoto N N Rabionet R R Rajcan-Separovic E E Qiao Y Y Sadikovic B B Saitsu H H Sweetser D A DA Alders M M Mannens M M A M MMAM
Clinical epigenetics 20191104 1
SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were previously linked to syndromic intellectual disability (ID). Here, we identify a specific hypermethylation signature associated with loss of function mutations in the SETD1B gene which may be used as an e ...[more]
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