增强子突变与表型模块性。
Enhancer mutations and phenotype modularity.
机构信息
University Paris Descartes-Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France.
出版信息
Nat Genet. 2014 Jan;46(1):3-4. doi: 10.1038/ng.2861.
DOI:10.1038/ng.2861
PMID:24370740
Abstract
Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis.
摘要
迄今为止，仅发现少数导致人类疾病的调控元件突变。一项新的研究报告鉴定了导致发育增强子活性丧失的顺式调控突变，从而导致胰腺发育不全。
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