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Shimojima Keiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. |
| Journal | Formal name：Journal of human genetics Abbreviation：J Hum Genet ISSN code：1434-5161/1435-232X |
| Volume, Issue, Page | 57(9),pp.580-6 |
| Author and coauthor | Shimojima Keiko, Inoue Takahito, Imai Yuki, Arai Yasuhiro, Komoike Yuta, Sugawara Midori, Fujita Takako, Ideguchi Hiroshi, Yasumoto Sawa, Kanno Hitoshi, Hirose Shinichi, Yamamoto Toshiyuki |
| Authorship | Lead author |
| Publication date | 2012/09 |
| Summary | Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder characterized by dysmyelination of the central nervous system (CNS). We identified a rare partial duplication of the proteolipid protein 1 gene (PLP1) in a patient with PMD. To assess the underlying effect of this duplication, we examined PLP1 expression in induced pluripotent stem (iPS) cells generated from the patient's fibroblasts. Disease-specific iPS cells were generated from skin fibroblasts obtained from the indicated PMD patient and two other PMD patients having a 637-kb chromosomal duplication including entire PLP1 and a novel missense mutation (W212C) of PLP1, by transfections of OCT3/4, C-MYC, KLF4 and SOX2 using retro-virus vectors. PLP1 expressions in the generated iPS cells were examined by northern blot analysis. Although PLP1 expression was confirmed in iPS cells generated from two patients with the entire PLP1 duplication and the missense mutation of PLP1, iPS cells generated from the patient with the partial PLP1 duplication manifesting a milder form of PMD showed null expression. This indicated that the underlying effect of the partial PLP1 duplication identified in this study was different from other PLP1 alterations including a typical duplication and a missense mutation. |
| DOI | 10.1038/jhg.2012.71 |
| Document No. | 22695888 |