西亚试剂：Recessive mutations in a distal PTF1A enhancer cause isolat

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Michael N Weedon, Inês Cebola, Ann-Marie Patch, Sarah E Flanagan, Elisa De Franco, Richard Caswell, Santiago A Rodríguez-Seguí, Charles Shaw-Smith, Candy H-H Cho, Hana Lango Allen, Jayne A L Houghton, Christian L Roth, Rongrong Chen, Khalid Hussain, Phil Marsh, Ludovic Vallier, Anna Murray, International Pancreatic Agenesis Consortium, Sian Ellard, Jorge Ferrer & Andrew T Hattersley

The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal regulatory mutations represents a formidable challenge. We used epigenomic annotation in human embryonic stem cell (hESC)-derived pancreatic progenitor cells to guide the interpretation of whole-genome sequences from individuals with isolated pancreatic agenesis. This analysis uncovered six different recessive mutations in a previously uncharacterized ~400-bp sequence located 25 kb downstream of PTF1A (encoding pancreas-specific transcription factor 1a) in ten families with pancreatic agenesis. We show that this region acts as a developmental enhancer of PTF1A and that the mutations abolish enhancer activity. These mutations are the most common cause of isolated pancreatic agenesis. Integrating genome sequencing and epigenomic annotation in a disease-relevant cell type can thus uncover new noncoding elements underlying human development and disease.

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