Erik A Koppes, Marie A Johnson, James J Moresco, Patrizia Luppi, Dale W Lewis, Donna B Stolz, Jolene K Diedrich, John R Yates, Ronald C Wek, Simon C Watkins, Susanne M Gollin, Hyun Jung Park, Peter Drain, Robert D Nicholls
Prader-Willi syndrome (PWS) is a multisystem disorder with neurobehavioral, metabolic, and hormonal phenotypes, caused by loss of expression of a paternally-expressed imprinted gene cluster. Prior evidence from a PWS mouse model identified abnormal pancreatic islet development with retention of aged insulin and deficient insulin secretion. To determine the collective roles of PWS genes in β-cell biology, we used genome-editing to generate isogenic, clonal INS-1 insulinoma lines having 3.16 Mb deletions of the silent, maternal- (control) and active, paternal-allele (PWS)...
April 17, 2023: PLoS Genetics