期刊
DEVELOPMENT
卷 146, 期 19, 页码 -出版社
COMPANY BIOLOGISTS LTD
DOI: 10.1242/dev.181354
关键词
PRC2; NSD1; DNMT3A; Weaver syndrome; Sotos syndrome; Tatton-Brown-Rahman syndrome
资金
- Irish Research Council Government of Ireland Postgraduate Scholarship Programme
- Science Foundation Ireland under the SFI Investigators Programme [SFI/16/IA/4562]
- Biotechnology and Biological Sciences Research Council-SFI [SFI/17/BBSRC/3415]
- Irish Research Council Advanced Laureate Award [IRCLA/2019/21]
- Worldwide Cancer Research
- Brain Tumour Charity [18-0592]
- Health Research Board [HRB-ILP-POR-2017-078]
- St. Vincent's Foundation
Polycomb repressive complex 2 (PRC2) is a conserved chromatin regulator that is responsible for the methylation of histone H3 lysine 27 (H3K27). PRC2 is essential for normal development and its loss of function thus results in a range of developmental phenotypes. Here, we review the latest advances in our understanding of mammalian PRC2 activity and present an updated summary of the phenotypes associated with its loss of function inmice. We then discuss recent studies that have highlighted regulatory interplay between the modifications laid down by PRC2 and other chromatin modifiers, including NSD1 and DNMT3A. Finally, we propose a model in which the dysregulation of these modifications at intergenic regions is a shared molecular feature of genetically distinct but highly phenotypically similar overgrowth syndromes in humans.
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