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Mutations in human ...
Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment
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- Davis, Kasey N. (author)
- Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.;Stanford Univ, Sch Med, Dept Genet, Palo Alto, CA 94304 USA.
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- Qu, Ping-Ping (author)
- Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.;Stanford Univ, Sch Med, Dept Genet, Palo Alto, CA 94304 USA.
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- Ma, Shining (author)
- Stanford Univ, Dept Stat, Stanford, CA 94305 USA.
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- Lin, Ling (author)
- Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.;Stanford Univ, Sch Med, Ctr Narcolepsy, Palo Alto, CA 94304 USA.
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- Plastini, Melanie (author)
- Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.;Stanford Univ, Sch Med, Dept Genet, Palo Alto, CA 94304 USA.
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- Dahl, Niklas (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik och neurobiologi
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- Plazzi, Giuseppe (author)
- IRCCS, Ist Sci Neurol Bologna, I-40139 Bologna, Italy.;Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, I-41125 Modena, Italy.
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- Pizza, Fabio (author)
- IRCCS, Ist Sci Neurol Bologna, I-40139 Bologna, Italy.;Univ Bologna, Dept Biomed & Neuromotor Sci, I-40126 Bologna, Italy.
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- O'Hara, Ruth (author)
- Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.
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- Wong, Wing Hung (author)
- Stanford Univ, Dept Stat, Stanford, CA 94305 USA.;Stanford Univ, Sch Med, Dept Biomed Data Sci, Palo Alto, CA 94304 USA.
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- Hallmayer, Joachim (author)
- Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.
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- Mignot, Emmanuel (author)
- Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.;Stanford Univ, Sch Med, Ctr Narcolepsy, Palo Alto, CA 94304 USA.
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- Zhang, Xianglong (author)
- Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.;Stanford Univ, Sch Med, Dept Genet, Palo Alto, CA 94304 USA.
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- Urban, Alexander E. (author)
- Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.;Stanford Univ, Sch Med, Dept Genet, Palo Alto, CA 94304 USA.
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Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA;Stanford Univ, Sch Med, Dept Genet, Palo Alto, CA 94304 USA. Stanford Univ, Dept Stat, Stanford, CA 94305 USA. (creator_code:org_t)
- Oxford University Press, 2023
- 2023
- English.
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In: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 32:21, s. 3105-3120
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- DNA methyltransferase type 1 (DNMT1) is a major enzyme involved in maintaining the methylation pattern after DNA replication. Mutations in DNMT1 have been associated with autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN). We used fibroblasts, induced pluripotent stem cells (iPSCs) and induced neurons (iNs) generated from patients with ADCA-DN and controls, to explore the epigenomic and transcriptomic effects of mutations in DNMT1. We show cell type–specific changes in gene expression and DNA methylation patterns. DNA methylation and gene expression changes were negatively correlated in iPSCs and iNs. In addition, we identified a group of genes associated with clinical phenotypes of ADCA-DN, including PDGFB and PRDM8 for cerebellar ataxia, psychosis and dementia and NR2F1 for deafness and optic atrophy. Furthermore, ZFP57, which is required to maintain gene imprinting through DNA methylation during early development, was hypomethylated in promoters and exhibited upregulated expression in patients with ADCA-DN in both iPSC and iNs. Our results provide insight into the functions of DNMT1 and the molecular changes associated with ADCA-DN, with potential implications for genes associated with related phenotypes.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
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- By the author/editor
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Davis, Kasey N.
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Qu, Ping-Ping
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Ma, Shining
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Lin, Ling
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Plastini, Melani ...
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Dahl, Niklas
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show more...
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Plazzi, Giuseppe
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Pizza, Fabio
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O'Hara, Ruth
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Wong, Wing Hung
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Hallmayer, Joach ...
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Mignot, Emmanuel
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Zhang, Xianglong
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Urban, Alexander ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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Human Molecular ...
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Uppsala University