Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene

@article{Chen1999OriginAI,
  title={Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene},
  author={J.-M. Chen and Claude F{\'e}rec},
  journal={Human Genetics},
  year={1999},
  volume={106},
  pages={125-126}
}
The N21I missense mutation in the cationic trypsinogen gene is the second most frequent mutation in hereditary pancreatitis (HP). In this article, we suggest that the N21I mutation most likely arose as a gene conversion event in which the functional anionic trypsinogen gene acted as the donor sequence. This hypothesis is supported by the unique presence of Ile at residue 21 of the anionic gene amongst the several highly homologous trypsinogen genes; a single unbroken tract of nucleotides of up… CONTINUE READING