Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS

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 with...

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Bibliographic Details
Published in:Stem cell research 2016-11, Vol.17 (3), p.526-530
Main Authors: Burnett, Lisa C., LeDuc, Charles A., Sulsona, Carlos R., Paull, Daniel, Eddiry, Sanaa, Levy, Brynn, Salles, Jean Pierre, Tauber, Maithe, Driscoll, Daniel J., Egli, Dieter, Leibel, Rudolph L.
Format: Article
Language:English
Subjects:
Animals
Cell Differentiation
Cell Line
Cellular Reprogramming
Comparative Genomic Hybridization
DNA Methylation
Fibroblasts - cytology
Gene Dosage
Genotype
Humans
Induced Pluripotent Stem Cells - cytology
Induced Pluripotent Stem Cells - metabolism
Induced Pluripotent Stem Cells - transplantation
Mice
Mice, Inbred NOD
Neurons - cytology
Neurons - metabolism
Prader-Willi Syndrome - genetics
Prader-Willi Syndrome - pathology
Skin - cytology
snRNP Core Proteins - genetics
Teratoma - pathology
Transcription Factors - genetics
Transcription Factors - metabolism
Tumor Suppressor Proteins - genetics
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2016.08.008