A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.

doi:10.1038/ng.3249

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Article

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.

Nature genetics - 1 May 2015

Fjeld Karianne, Weiss Frank Ulrich, Lasher Denise, Rosendahl Jonas, Chen Jian-Min, Johansson Bente B, Kirsten Holger, Ruffert Claudia, Masson Emmanuelle, Steine Solrun J, Bugert Peter, Cnop Miriam, Grützmann Robert, Mayerle Julia, Mössner Joachim, Ringdal Monika, Schulz Hans-Ulrich, Sendler Matthias, Simon Peter, Sztromwasser Paweł, Torsvik Janniche, Scholz Markus, Tjora Erling, Férec Claude, Witt Heiko, Lerch Markus M, Njølstad Pål R, Johansson Stefan, Molven Anders

Abstract excerpt

Carboxyl ester lipase is a digestive pancreatic enzyme encoded by the CEL gene. Mutations in CEL cause maturity-onset diabetes of the young as well as pancreatic exocrine dysfunction. Here we describe a hybrid allele (CEL-HYB) originating from a crossover between CEL and its neighboring pseudogene, CELP. In a discovery series of familial chronic pancreatitis cases, we observed CEL-HYB in 14.1% (10/71) of cases...

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PMID: 25774637
DOI: 10.1038/ng.3249
PMCID: PMC5321495

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