Defining the Roles of the Overgrowth Syndrome Genes NSD1, Setd2 and EZH2 in Shaping the Epigenome and Transcriptome in Early Embryonic Development

定义过度生长综合征基因 NSD1、Setd2 和 EZH2 在塑造早期胚胎发育中表观基因组和转录组中的作用

• 批准号: 355687
• 负责人: Lorincz Matthew C
• 金额: $ 52.94万
• 依托单位: University of British Columbia
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2016
• 资助国家: 加拿大
• 起止时间: 2016-10-01 至 2021-10-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=355687&lang=en
• 关键词: Chromatin; Ezh2; H3k36me3; Methylation; Nsd1; Overgrowth Syndromes; Polycomb; Setd2; Sotos Syndrome; Weaver Syndrome

Human overgrowth disorders such as Sotos syndrome are characterized by pre- and postnatal increased growth, intellectual disability and facial anomalies. These diseases result from mutations in genes that encode enzymes that turn off other genes by changi

人类过度生长障碍，如Sotos综合征，其特征是产前和产后生长加快、智力残疾和面部畸形。这些疾病是由编码酶的基因突变引起的，这些酶通过改变基因的表达而关闭其他基因。