Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.

@article{King2007IdentificationEA,
  title={Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.},
  author={Kathy King and Richard Bagnall and Sheila A. Fisher and Faisal Sheikh and Andrew Cuthbert and Sipin Tan and Nicholas I. Mundy and Philip Rosenstiel and Stefan Schreiber and Christopher G Mathew and Roland G Roberts},
  journal={Genomics},
  year={2007},
  volume={90 4},
  pages={493-501}
}
Mutations in the NOD2 (CARD15) gene predispose to Crohn's disease (CD), a human chronic inflammatory bowel disorder, and can cause Blau syndrome. During an investigation of an apparent correlation between a frameshifting mutation in the canonical first exon of NOD2 of marmoset and tamarin species and their susceptibility to chronic colitis, we found that, contrary to previous reports, the basal levels of NOD2 transcripts in tissues relevant to CD arise from a distinct novel promoter and first… CONTINUE READING