title: Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS.
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.
authors: Columbia University, Institute of Human Nutrition, United States; Columbia University, Department of Pediatrics, Division of Molecular Genetics, United States; Naomi Berrie Diabetes Center, United States. Electronic address: lmc2200@cumc.columbia.edu.
authors: Lisa C
authors: LC
authors: Burnett
authors: Columbia University, Department of Pediatrics, Division of Molecular Genetics, United States; Naomi Berrie Diabetes Center, United States; New York Obesity Research Center, United States.
authors: Charles A
authors: CA
authors: LeDuc
authors: Department of Pediatrics and Center for Epigenetics, University of Florida College of Medicine Gainesville, FL, United States. Electronic address: sulsonac@ufl.edu.
authors: Carlos R
authors: CR
authors: Sulsona
authors: New York Stem Cell Foundation Research Institute, United States. Electronic address: dpaull@nyscf.org.
authors: Daniel
authors: D
authors: Paull
authors: Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043, CNRS UMR 5282, Université Paul Sabatier, Toulouse, France. Electronic address: eddiry@gmail.com.
authors: Sanaa
authors: S
authors: Eddiry
authors: Columbia University, Department of Pathology and Cell Biology, United States. Electronic address: bl2185@cumc.columbia.edu.
authors: Brynn
authors: B
authors: Levy
authors: Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043, CNRS UMR 5282, Université Paul Sabatier, Toulouse, France; Unité d'Endocrinologie, Hôpital des Enfants, CHU de Toulouse, Toulouse, France. Electronic address: salles.jp@chu-toulouse.fr.
authors: Jean Pierre
authors: JP
authors: Salles
authors: Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043, CNRS UMR 5282, Université Paul Sabatier, Toulouse, France; Unité d'Endocrinologie, Hôpital des Enfants, CHU de Toulouse, Toulouse, France; Centre de Référence du Syndrome de Prader-Willi, Toulouse, France. Electronic address: tauber.mt@chu-toulouse.fr.
authors: Maithe
authors: M
authors: Tauber
authors: Department of Pediatrics and Center for Epigenetics, University of Florida College of Medicine Gainesville, FL, United States. Electronic address: driscdj@peds.ufl.edu.
authors: Daniel J
authors: DJ
authors: Driscoll
authors: Columbia University, Department of Pediatrics, Division of Molecular Genetics, United States; Naomi Berrie Diabetes Center, United States; New York Stem Cell Foundation Research Institute, United States. Electronic address: de2220@cumc.columbia.edu.
authors: Dieter
authors: D
authors: Egli
authors: Columbia University, Department of Pediatrics, Division of Molecular Genetics, United States; Naomi Berrie Diabetes Center, United States; New York Obesity Research Center, United States. Electronic address: rl2332@cumc.columbia.edu.
authors: Rudolph L
authors: RL
authors: Leibel
mesh_terms: D000818:Animals; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D055028:Comparative Genomic Hybridization; D019175:DNA Methylation; D005347:Fibroblasts / Q000166:cytology; D018628:Gene Dosage; D005838:Genotype; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D051379:Mice; D016688:Mice, Inbred NOD; D009474:Neurons / Q000166:cytology / Q000378:metabolism; D011218:Prader-Willi Syndrome / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000166:cytology; D013724:Teratoma / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055517:snRNP Core Proteins / Q000235:genetics
chemical_list: C000612102:NDN protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D055517:snRNP Core Proteins