Author:

Burnett LC, LeDuc CA, Sulsona CR, Paull D, Eddiry S, Levy B, Salles JP, Tauber M, Driscoll DJ, Egli D, Leibel RL

Scientific Notation:

Stem Cell Res. 2016 Aug 16;17(3):526-530. doi: 10.1016/j.scr.2016.08.008. [Epub ahead of print]

Publication:

http://www.sciencedirect.com/science/article/pii/S1873506116301076

Abstract:

Prader-Willi syndrome (PWS) is a syndromic obesity caused by loss of paternal gene expression in an imprinted interval on 15q11.2-q13. Induced pluripotent stem cells were generated from skin cells of three large deletion PWS patients and one unique microdeletion PWS patient. We found that genes within the PWS region, including SNRPN and NDN, showed persistence of DNA methylation after iPSC reprogramming and differentiation to neurons. Genes within the PWS minimum critical deletion region remain silenced in both PWS large deletion and microdeletion iPSC following reprogramming. PWS iPSC and their relevant differentiated cell types could provide in vitro models of PWS.

FPWR Grant:

Use of stem cell-derived neurons to identify the molecular basis of the PWS