The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
Open accessAbstract
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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Metadata
- Authors
- International Pancreatic Agenesis Consortium, Weedon, M. N., Cebola, I., Patch, A.-M., Flanagan, S. E., De Franco, E., Caswell, R., Rodríguez-Seguí, S. A., Shaw-Smith, C., Cho, C. H.-H., Allen, H. L., Houghton, J. A. L., Roth, C. L., Chen, R., Hussain, K., Marsh, P., Vallier, L., Murray, A., Ellard, S., Ferrer, J., & Hattersley, A. T.
- Venue
- Nature Genetics
- Published
- 2013-11-10
- Volume
- 46
- Issue
- 1
- Pages
- 61-64
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1973556785
- Cited by
- 297
- References
- 39
- FWCI
- 26.64
- Type
- journal article
- Language
- en
- Open access
- green
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- International Pancreatic Agenesis Consortium, Weedon, M. N., Cebola, I., Patch, A.-M., Flanagan, S. E., De Franco, E., Caswell, R., Rodríguez-Seguí, S. A., Shaw-Smith, C., Cho, C. H.-H., Allen, H. L., Houghton, J. A. L., Roth, C. L., Chen, R., Hussain, K., Marsh, P., Vallier, L., Murray, A., Ellard, S., . . . Hattersley, A. T. (2014). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nature Genetics. https://doi.org/10.1038/ng.2826
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