Article

Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

2020-06-01

Abstract excerpt

<h4>ABSTRACT</h4> Despite the central role of chromosomal context in gene transcription, human noncoding DNA variants are generally studied outside of their endogenous genomic location. This poses major limitations to understand the true consequences of causal regulatory variants. We focused on a cis-regulatory mutation (c.-331C>G) in the INS gene promoter that is recurrently mutated in unrelated patients with r...

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Literature Corpus work: 6122fc05-df58-57fd-8fe5-9ebbd73dfdb6
DOI: 10.1101/2020.05.31.125377

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