Cited by 271Genetics and Neurodevelopmental DisordersPluripotent Stem Cells ResearchRetinal Development and Disorders

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Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

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Cheung, Aaron Y.L., Horvath, Lindsay M., Grafodatskaya, Daria, Pasceri, Peter, Weksberg, Rosanna, Hotta, Akitsu, Carrel, Laura, Ellis, James·2011·Human Molecular Genetics

DOI 10.1093/hmg/ddr093PMC PMC3090191

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Abstract

Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). The majority of RTT patients carry missense and nonsense mutations leading to a hypomorphic MECP2, while null mutations leading to the complete absence of a functional protein are rare. MECP2 is an X-linked gene subject to random X-chromosome inactivation resulting in mosaic expression of mutant MECP2. The lack of human brain tissue motivates the need for alternative human cellular models to study RTT. Here we report the characterization of a MECP2 mutation in a classic female RTT patient involving rearrangements that remove exons 3 and 4 creating a functionally null mutation. To generate human neuron models of RTT, we isolated human induced pluripotent stem (hiPS) cells from RTT patient fibroblasts. RTT-hiPS cells retained the MECP2 mutation, are pluripotent and fully reprogrammed, and retained an inactive X-chromosome in a nonrandom pattern. Taking advantage of the latter characteristic, we obtained a pair of isogenic wild-type and mutant MECP2 expressing RTT-hiPS cell lines that retained this MECP2 expression pattern upon differentiation into neurons. Phenotypic analysis of mutant RTT-hiPS cell-derived neurons demonstrated a reduction in soma size compared with the isogenic control RTT-hiPS cell-derived neurons from the same RTT patient. Analysis of isogenic control and mutant hiPS cell-derived neurons represents a promising source for understanding the pathogenesis of RTT and the role of MECP2 in human neurons.

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Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
Takahashi, K., Tanabe, K., Ohnuki, M., Narita, M., Ichisaka, T., Tomoda, K., & Yamanaka, S. (2007) · Cell · doi:10.1016/j.cell.2007.11.019 · Cited by 20,221
Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells
Yu, J., Vodyanik, M. A., Smuga-Otto, K., Antosiewicz-Bourget, J., Frane, J. L., Tian, S., Nie, J., Jonsdottir, G. A., Ruotti, V., Stewart, R., et al. (2007) · Science · doi:10.1126/science.1151526 · Cited by 10,310
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
Nan, X., Ng, H.-H., Johnson, C. A., Laherty, C. D., Turner, B. M., Eisenman, R. N., & Bird, A. (1998) · Nature · doi:10.1038/30764 · Cited by 3,440
Reprogramming of human somatic cells to pluripotency with defined factors
Park, I.-H., Zhao, R., West, J. A., Yabuuchi, A., Huo, H., Ince, T. A., Lerou, P. H., Lensch, M. W., & Daley, G. Q. (2008) · Nature · doi:10.1038/nature06534 · Cited by 2,436
Disease-Specific Induced Pluripotent Stem Cells.
Park, I.-H., Arora, N., Huo, H., Maherali, N., Ahfeldt, T., Shimamura, A., Lensch, M. W., Cowan, C., Hochedlinger, K., & Daley, G. Q. (2008) · Cell · doi:10.1016/j.cell.2008.07.041 · Cited by 2,196 · cited 1×
“D3–4-hiPS cells were fully reprogrammed, as retroviral transgenes were largely silenced and have simultaneously reactivated the endogenous loci of the reprogramming factors similar to previously published patient-specific hiPS cell lines (29,31,32) (Fig.”
Result
Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons
Dimos, J. T., Rodolfa, K. T., Niakan, K. K., Weisenthal, L. M., Mitsumoto, H., Chung, W. K., Croft, G. F., Saphier, G., Leibel, R. L., Goland, R., et al. (2008) · Science · doi:10.1126/science.1158799 · Cited by 2,019
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823
Directly reprogrammed fibroblasts show global epigenetic remodeling and widespread tissue contribution
Maherali, N., Sridharan, R., Xie, W., Utikal, J., Eminli, S., Arnold, K., Stadtfeld, M., Yachechko, R., Tchieu, J., Jaenisch, R., et al. (2007) · Cell stem cell · doi:10.1016/j.stem.2007.05.014 · Cited by 1,725
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001) · Nature Genetics · doi:10.1038/85899 · Cited by 1,558

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Kim, K., Hysolli, E., Tanaka, Y., Wang, B., Jung, Y. W., Pan, X., Weissman, S. M., & Park, I. (2014) · Stem Cell Reports · doi:10.1016/j.stemcr.2014.04.003 · Cited by 40
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Niu, W., & Parent, J. M. (2019) · Developmental Dynamics · doi:10.1002/dvdy.79 · Cited by 38
Efficient and Precise CRISPR/Cas9-Mediated MECP2 Modifications in Human-Induced Pluripotent Stem Cells
Hương, L. T., Tran, N. T., Dao, T. M. L., Nguyen, D. D., Do, H. D., Ha, T. L., Kühn, R., Nguyễn, T. L., Rajewsky, K., & Chu, V. T. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00625 · Cited by 42
X chromosome inactivation in human pluripotent stem cells as a model for human development: back to the drawing board?
Geens, M., & Lopes, S. M. C. D. S. (2017) · Human Reproduction Update · doi:10.1093/humupd/dmx015 · Cited by 37
Transcriptome level analysis in Rett syndrome using human samples from different tissues
Shovlin, S., & Tropea, D. (2018) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0857-8 · Cited by 39
Transcriptional regulation in pluripotent stem cells by methyl CpG-binding protein 2 (MeCP2)
Tanaka, Y., Kim, K., Zhong, M., Pan, X., Weissman, S. M., & Park, I. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt500 · Cited by 38
Using Patient-Derived Induced Pluripotent Stem Cells to Model and Treat Epilepsies
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Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations
Mok, R. S. F., Zhang, W., Sheikh, T. I., Pradeepan, K. S., Fernandes, I. R., DeJong, L. C., Benigno, G., Hildebrandt, M. R., Mufteev, M., Rodrigues, D. C., et al. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02216-1 · Cited by 35
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Ma, Y., Li, C., Gu, J., Tang, F., Li, C., Li, P., Ping, P., Yang, S., Li, Z., & Jin, Y. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.380204 · Cited by 35
Beyond widespread Mecp2 deletions to model Rett syndrome: conditional spatio-temporal knockout, single-point mutations and transgenic rescue mice
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Hirose, S., Tanaka, Y., Shibata, M., Kimura, Y., Ishikawa, M., Higurashi, N., Yamamoto, T., Ichise, E., Chiyonobu, T., & Ishii, A. (2020) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2020.103535 · Cited by 30
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Beltrão-Braga, P. C. B., & Muotri, A. R. (2016) · Brain Research · doi:10.1016/j.brainres.2016.01.057 · Cited by 36
Investigation of Rett syndrome using pluripotent stem cells
Dajani, R. B., Koo, S.-E., Sullivan, G. J., & Park, I. (2013) · Journal of Cellular Biochemistry · doi:10.1002/jcb.24597 · Cited by 29
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Freitas, B. C. G., Trujillo, C. A., Carromeu, C., Yusupova, M., Herai, R. H., & Muotri, A. R. (2014) · Experimental Neurology · doi:10.1016/j.expneurol.2012.09.017 · Cited by 27
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Zhao, W., Tobe, B. T. D., Udeshi, N. D., Xuan, L. L., Pernia, C. D., Zolg, D. P., Roberts, A. J., Mani, D. R., Blumenthal, S. R., Kurtser, I., et al. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-0753-6 · Cited by 15
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Kinnear, C., Agrawal, R., Loo, C. K. J., Pahnke, A., Rodrigues, D. C., Thompson, T., Akinrinade, O., Ahadian, S., Keeley, F. W., Radisic, M., et al. (2020) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.119.313936 · Cited by 13
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Nikoletopoulou, V., & Tavernarakis, N. (2012) · Biotechnology Journal · doi:10.1002/biot.201200040 · Cited by 11
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Rodrigues, D. C., Mufteev, M., Yuki, K. E., Narula, A., Wei, W., Piekna, A., Liu, J., Pasceri, P., Rissland, O. S., Wilson, M. D., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-37339-6 · Cited by 10
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Authors: Cheung, A. Y. L., Horvath, L. M., Grafodatskaya, D., Pasceri, P., Weksberg, R., Hotta, A., Carrel, L., & Ellis, J.
Affiliations: University of Toronto (CA)
Pennsylvania State University (US)
Hospital for Sick Children (CA)
Biologie du Développement et Cellules Souches (FR)
Corresponding author: Ellis, James
ORCID: Grafodatskaya, Daria
Pasceri, Peter
Weksberg, Rosanna
Hotta, Akitsu
Carrel, Laura
Ellis, James
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2011-03-03
Volume: 20
Issue: 11
Pages: 2103-2115
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddr093
PMC: PMC3090191
OpenAlex: W2103756619
Cited by: 271
References: 61
Citations by year: 2026: 3 · 2025: 6 · 2024: 13 · 2023: 15 · 2022: 5 · 2021: 3 · 2020: 21 · 2019: 15 · 2018: 19 · 2017: 19 · 2016: 20 · 2015: 30 · 2014: 19 · 2013: 24 · 2012: 42
FWCI: 20.35
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by-nc
Locations: Human Molecular Genetics (publishedVersion, cc-by-nc)
PubMed Central (publishedVersion, cc-by-nc)
PubMed (publishedVersion)
Funders: Canadian Institutes of Health Research (RMF92090, 94505_1, MOP102649)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD056452, R01HD056452)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Keywords: Rett syndrome, MeCP2, X chromosome inactivation, induced pluripotent stem cells, isogenic cell lines, fibroblast reprogramming, neurodevelopmental disorders, autism spectrum disorder
MeSH terms: Brain, Cell Differentiation, Cell Line, Chromosome Mapping, Exons, Female, Gene Expression Regulation, Genotype, Humans, Immunohistochemistry, Karyotyping, Male, Mutation, Neurons, Phenotype, Rett Syndrome, DNA Fingerprinting, Chromosomes, Human, X, X Chromosome Inactivation, Genes, X-Linked, Methyl-CpG-Binding Protein 2, Induced Pluripotent Stem Cells

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Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

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