Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS.
Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS.
复制标题
DOI：
10.1016/j.scr.2016.08.008
复制
发表时间：
2016-11
影响因子：
1.2
通讯作者：
Leibel RL
中科院分区：
文献类型：
--
作者：
Burnett LC;LeDuc CA;Sulsona CR;Paull D;Eddiry S;Levy B;Salles JP;Tauber M;Driscoll DJ;Egli D;Leibel RL
Prader-Willi综合征（PWS）是一种由15q11.2-q13上一个印记间隔的父系基因表达缺失引起的综合征性肥胖。诱导多能干细胞从三个大缺失PWS患者和一个独特的微缺失PWS患者的皮肤细胞产生。我们发现PWS区域内的基因，包括SNRPN和NDN，在iPSC重编程和分化为神经元后表现出DNA甲基化的持续性。PWS最小关键缺失区内的基因在重编程后在PWS大缺失和微缺失iPSC中保持沉默。PWS iPSC及其相关的分化细胞类型可以提供PWS的体外模型。
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.
登录
查看更多内容
影响因子：
5.2
作者：
Bieth, Eric;Eddiry, Sanaa;Tauber, Maithe
通讯作者：
Tauber, Maithe
影响因子：
5.2
作者：
Cassidy, Suzanne B.;Driscoll, Daniel J.
通讯作者：
Driscoll, Daniel J.
影响因子：
5.4
作者：
Angulo MA;Butler MG;Cataletto ME
通讯作者：
Cataletto ME
影响因子：
46.9
作者：
Chambers, Stuart M.;Fasano, Christopher A.;Papapetrou, Eirini P.;Tomishima, Mark;Sadelain, Michel;Studer, Lorenz
通讯作者：
Studer, Lorenz
影响因子：
64.5
作者：
Takahashi, Kazutoshi;Tanabe, Koji;Yamanaka, Shinya
通讯作者：
Yamanaka, Shinya