PRSS1 copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effects.

Gut Month 2017 Vol 0 No 0 Figure 1 Schematic illustration of the PRSS1 (as well as PRSS2) duplication CNVs whose breakpoints have been characterised at the nucleotide sequence level. The start and end positions of each duplicated segment are indicated in accordance with human GRCh38/hg38. The critical region contained within these duplicated sequences is indicated by vertical dotted lines. Whereas #3, #4 and #5 are simple duplications, #1 and #2 are complex duplications. In #1, only the functionally relevant duplicated segment is shown; this duplicated allele gave rise to the previously known triplication allele. In #2, an insertion was present in the aberrant chromosomal junction. Sequences spanning the aberrant chromosomal junctions of the four novel PRSS1 duplication CNVs are provided in online supplementary figure S1. CNVs, copy number variants. Letter