Literature DB >> 31542590

The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis.

Laura A Lavery1, Huda Y Zoghbi2.   

Abstract

Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the landscape of pathogenic mutations and function of MeCP2, and culminate with recent advances elucidating the distinct DNA methylation landscape in the brain that may explain why disease symptoms are delayed and selective to the nervous system.
Copyright © 2019 Elsevier Ltd. All rights reserved.

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Year:  2019        PMID: 31542590      PMCID: PMC6892602          DOI: 10.1016/j.conb.2019.08.001

Source DB:  PubMed          Journal:  Curr Opin Neurobiol        ISSN: 0959-4388            Impact factor:   6.627


  78 in total

1.  RettBASE: Rett syndrome database update.

Authors:  Rahul Krishnaraj; Gladys Ho; John Christodoulou
Journal:  Hum Mutat       Date:  2017-06-09       Impact factor: 4.878

Review 2.  Recent endeavors in MECP2 gene transfer for gene therapy of Rett syndrome.

Authors:  Sarah E Sinnett; Steven J Gray
Journal:  Discov Med       Date:  2017-10       Impact factor: 2.970

3.  MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.

Authors:  Taimoor I Sheikh; Ricardo Harripaul; Muhammad Ayub; John B Vincent
Journal:  Hum Mutat       Date:  2018-03-08       Impact factor: 4.878

4.  Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes.

Authors:  Janine M Lamonica; Deborah Y Kwon; Darren Goffin; Polina Fenik; Brian S Johnson; Yue Cui; Hengyi Guo; Sigrid Veasey; Zhaolan Zhou
Journal:  J Clin Invest       Date:  2017-04-10       Impact factor: 14.808

5.  Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.

Authors:  Mona Shahbazian; Juan Young; Lisa Yuva-Paylor; Corinne Spencer; Barbara Antalffy; Jeffrey Noebels; Dawna Armstrong; Richard Paylor; Huda Zoghbi
Journal:  Neuron       Date:  2002-07-18       Impact factor: 17.173

6.  MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system.

Authors:  Marian Mellén; Pinar Ayata; Scott Dewell; Skirmantas Kriaucionis; Nathaniel Heintz
Journal:  Cell       Date:  2012-12-21       Impact factor: 41.582

7.  Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome.

Authors:  Brian S Johnson; Ying-Tao Zhao; Maria Fasolino; Janine M Lamonica; Yoon Jung Kim; George Georgakilas; Kathleen H Wood; Daniel Bu; Yue Cui; Darren Goffin; Golnaz Vahedi; Tae Hoon Kim; Zhaolan Zhou
Journal:  Nat Med       Date:  2017-09-18       Impact factor: 53.440

8.  The nuclear DNA base 5-hydroxymethylcytosine is present in Purkinje neurons and the brain.

Authors:  Skirmantas Kriaucionis; Nathaniel Heintz
Journal:  Science       Date:  2009-04-16       Impact factor: 47.728

9.  MeCP2, a key contributor to neurological disease, activates and represses transcription.

Authors:  Maria Chahrour; Sung Yun Jung; Chad Shaw; Xiaobo Zhou; Stephen T C Wong; Jun Qin; Huda Y Zoghbi
Journal:  Science       Date:  2008-05-30       Impact factor: 47.728

10.  A mutation-led search for novel functional domains in MeCP2.

Authors:  Jacky Guy; Beatrice Alexander-Howden; Laura FitzPatrick; Dina DeSousa; Martha V Koerner; Jim Selfridge; Adrian Bird
Journal:  Hum Mol Genet       Date:  2018-07-15       Impact factor: 6.150

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  12 in total

1.  Rett mutations attenuate phase separation of MeCP2.

Authors:  Chunyan Fan; Honglian Zhang; Liangzheng Fu; Yuejiao Li; Yi Du; Zilong Qiu; Falong Lu
Journal:  Cell Discov       Date:  2020-06-16       Impact factor: 10.849

Review 2.  Emerging Insights into the Distinctive Neuronal Methylome.

Authors:  Adam W Clemens; Harrison W Gabel
Journal:  Trends Genet       Date:  2020-08-21       Impact factor: 11.639

3.  MicroRNA-29 is an essential regulator of brain maturation through regulation of CH methylation.

Authors:  Vijay Swahari; Ayumi Nakamura; Emilie Hollville; Hume Stroud; Jeremy M Simon; Travis S Ptacek; Matthew V Beck; Cornelius Flowers; Jiami Guo; Charlotte Plestant; Jie Liang; C Lisa Kurtz; Matt Kanke; Scott M Hammond; You-Wen He; E S Anton; Praveen Sethupathy; Sheryl S Moy; Michael E Greenberg; Mohanish Deshmukh
Journal:  Cell Rep       Date:  2021-04-06       Impact factor: 9.423

4.  Rett mutations attenuate phase separation of MeCP2.

Authors:  Chunyan Fan; Honglian Zhang; Liangzheng Fu; Yuejiao Li; Yi Du; Zilong Qiu; Falong Lu
Journal:  Cell Discov       Date:  2020-06-16       Impact factor: 10.849

5.  Quantitative analysis questions the role of MeCP2 as a global regulator of alternative splicing.

Authors:  Kashyap Chhatbar; Justyna Cholewa-Waclaw; Ruth Shah; Adrian Bird; Guido Sanguinetti
Journal:  PLoS Genet       Date:  2020-10-13       Impact factor: 5.917

Review 6.  MeCP2: The Genetic Driver of Rett Syndrome Epigenetics.

Authors:  Katrina V Good; John B Vincent; Juan Ausió
Journal:  Front Genet       Date:  2021-01-21       Impact factor: 4.599

7.  DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders.

Authors:  Diana L Christian; Dennis Y Wu; Jenna R Martin; J Russell Moore; Yiran R Liu; Adam W Clemens; Sabin A Nettles; Nicole M Kirkland; Thomas Papouin; Cheryl A Hill; David F Wozniak; Joseph D Dougherty; Harrison W Gabel
Journal:  Cell Rep       Date:  2020-11-24       Impact factor: 9.423

Review 8.  The Molecular Functions of MeCP2 in Rett Syndrome Pathology.

Authors:  Osman Sharifi; Dag H Yasui
Journal:  Front Genet       Date:  2021-04-23       Impact factor: 4.599

Review 9.  Proteomic and transcriptional changes associated with MeCP2 dysfunction reveal nodes for therapeutic intervention in Rett syndrome.

Authors:  Ketan Marballi; Jessica L MacDonald
Journal:  Neurochem Int       Date:  2021-05-26       Impact factor: 4.297

10.  Phenotypic Subtyping and Re-Analysis of Existing Methylation Data from Autistic Probands in Simplex Families Reveal ASD Subtype-Associated Differentially Methylated Genes and Biological Functions.

Authors:  Elizabeth C Lee; Valerie W Hu
Journal:  Int J Mol Sci       Date:  2020-09-19       Impact factor: 5.923

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