Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
J Biol Chem
2010 Dec 17;28551:40303-11. doi: 10.1074/jbc.M110.183392.
Show Gene links
Show Anatomy links
Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome.
Yang J, Cai J, Zhang Y, Wang X, Li W, Xu J, Li F, Guo X, Deng K, Zhong M, Chen Y, Lai L, Pei D, Esteban MA.
???displayArticle.abstract???
The recent discovery of induced pluripotent stem cell (iPSC) technology provides an invaluable tool for creating in vitro representations of human genetic conditions. This is particularly relevant for those diseases that lack adequate animal models or where the species comparison is difficult, e.g. imprinting diseases such as the neurogenetic disorder Prader-Willi syndrome (PWS). However, recent reports have unveiled transcriptional and functional differences between iPSCs and embryonic stem cells that in cases are attributable to imprinting errors. This has suggested that human iPSCs may not be useful to model genetic imprinting diseases. Here, we describe the generation of iPSCs from a patient with PWS bearing a partial translocation of the paternally expressed chromosome 15q11-q13 region to chromosome 4. The resulting iPSCs match all standard criteria of bona fide reprogramming and could be readily differentiated into tissues derived from the three germ layers, including neurons. Moreover, these iPSCs retain a high level of DNA methylation in the imprinting center of the maternal allele and show concomitant reduced expression of the disease-associated small nucleolar RNA HBII-85/SNORD116. These results indicate that iPSCs may be a useful tool to study PWS and perhaps other genetic imprinting diseases as well.
Cai,
Generation of human induced pluripotent stem cells from umbilical cord matrix and amniotic membrane mesenchymal cells.
2010, Pubmed
Cai,
Generation of human induced pluripotent stem cells from umbilical cord matrix and amniotic membrane mesenchymal cells.
2010,
Pubmed Cavaillé,
Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization.
2000,
Pubmed Cerda,
Influence of oxygen radical injury on DNA methylation.
1997,
Pubmed Chamberlain,
Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13.
2010,
Pubmed Chin,
Molecular analyses of human induced pluripotent stem cells and embryonic stem cells.
2010,
Pubmed Constância,
Imprinting mechanisms.
1998,
Pubmed El-Maarri,
Maternal methylation imprints on human chromosome 15 are established during or after fertilization.
2001,
Pubmed Esteban,
Vitamin C enhances the generation of mouse and human induced pluripotent stem cells.
2010,
Pubmed Esteller,
Epigenetics in cancer.
2008,
Pubmed Fernández-Gonzalez,
Long-term effect of in vitro culture of mouse embryos with serum on mRNA expression of imprinting genes, development, and behavior.
2004,
Pubmed Gallagher,
Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.
2002,
Pubmed Ghosh,
Persistent donor cell gene expression among human induced pluripotent stem cells contributes to differences with human embryonic stem cells.
2010,
Pubmed Horsthemke,
Mechanisms of imprinting of the Prader-Willi/Angelman region.
2008,
Pubmed Huangfu,
Induction of pluripotent stem cells from primary human fibroblasts with only Oct4 and Sox2.
2008,
Pubmed Jirtle,
Environmental epigenomics and disease susceptibility.
2007,
Pubmed Kim,
Epigenetic memory in induced pluripotent stem cells.
2010,
Pubmed Kim,
Gene-specific vulnerability to imprinting variability in human embryonic stem cell lines.
2007,
Pubmed Kishino,
UBE3A/E6-AP mutations cause Angelman syndrome.
1997,
Pubmed Kishore,
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C.
2006,
Pubmed Koerner,
Genomic imprinting-an epigenetic gene-regulatory model.
2010,
Pubmed Lako,
Induced pluripotent stem cells : it looks simple but can looks deceive?
2010,
Pubmed Law,
Establishing, maintaining and modifying DNA methylation patterns in plants and animals.
2010,
Pubmed Lee,
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.
2009,
Pubmed Leung,
Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.
2009,
Pubmed Li,
Synergistic function of DNA methyltransferases Dnmt3a and Dnmt3b in the methylation of Oct4 and Nanog.
2007,
Pubmed Lister,
Human DNA methylomes at base resolution show widespread epigenomic differences.
2009,
Pubmed Luedi,
Genome-wide prediction of imprinted murine genes.
2005,
Pubmed Meissner,
Epigenetic modifications in pluripotent and differentiated cells.
2010,
Pubmed Moretti,
Patient-specific induced pluripotent stem-cell models for long-QT syndrome.
2010,
Pubmed Närvä,
High-resolution DNA analysis of human embryonic stem cell lines reveals culture-induced copy number changes and loss of heterozygosity.
2010,
Pubmed Pick,
Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells.
2009,
Pubmed Polo,
Cell type of origin influences the molecular and functional properties of mouse induced pluripotent stem cells.
2010,
Pubmed Rashid,
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.
2010,
Pubmed Reik,
Genomic imprinting: parental influence on the genome.
2001,
Pubmed Rugg-Gunn,
Status of genomic imprinting in human embryonic stem cells as revealed by a large cohort of independently derived and maintained lines.
2007,
Pubmed Sahoo,
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
2008,
Pubmed Saitoh,
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
1996,
Pubmed Santos-Rebouças,
Implication of abnormal epigenetic patterns for human diseases.
2007,
Pubmed Szabó,
Expression and methylation of imprinted genes during in vitro differentiation of mouse parthenogenetic and androgenetic embryonic stem cell lines.
1994,
Pubmed Takahashi,
Induction of pluripotent stem cells from adult human fibroblasts by defined factors.
2007,
Pubmed Takahashi,
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors.
2006,
Pubmed Urbach,
Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells.
2010,
Pubmed Weksberg,
Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
2003,
Pubmed Wilmut,
The first direct reprogramming of adult human fibroblasts.
2007,
Pubmed Wood,
Genomic imprinting in mammals: emerging themes and established theories.
2006,
Pubmed Yu,
Induced pluripotent stem cell lines derived from human somatic cells.
2007,
Pubmed
