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综合体内审讯揭示了人类增强剂变体的表型影响

Evgeny Z Kvon1, Yiwen Zhu1, Guy Kelman1

  • 1Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.

Cell
|March 15, 2020
PubMed
概括

研究人员开发了一种小鼠报告测试方法,以测试与多爪相关的人类增强剂变体. 大多数测试的变种在体内显示出致病潜力,证实它们在遗传疾病中的作用.

关键词:
在CRISPR/Cas9中声波刺在 ZRS调节元素增强剂基因组编辑肢体的发展发生变异多动员症罕见的非编码变体

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In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
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