Article
Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene.
Cell reports - 13 Apr 2021
Akerman Ildem, Maestro Miguel Angel, De Franco Elisa, Grau Vanessa, Flanagan Sarah, García-Hurtado Javier, Mittler Gerhard, Ravassard Philippe, Piemonti Lorenzo, Ellard Sian, Hattersley Andrew T, Ferrer Jorge
Abstract excerpt
Despite the central role of chromosomal context in gene transcription, human noncoding DNA variants are generally studied outside of their genomic location. This limits our understanding of disease-causing regulatory variants. INS promoter mutations cause recessive neonatal diabetes. We show that all INS promoter point mutations in 60 patients disrupt a CC dinucleotide, whereas none affect other elements...
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