Cromatinopatías. – Neuropediatoolkit

Heterocromatina.

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1.
Alpsoy A, Sood S, Dykhuizen EC. At the Crossroad of Gene Regulation and Genome Organization: Potential Roles for ATP-Dependent Chromatin Remodelers in the Regulation of CTCF-Mediated 3D Architecture. Biology [Internet]. 2021 Apr [cited 2022 Nov 7];10(4):272. Available from: https://www.mdpi.com/2079-7737/10/4/272

Cromatinopatías.

DNA methylation.
- Writers (DNMTs).
- Readers (MBDs).
  - MeCP2 related disorders (Rett).
  - MBD5 haploinsufficiency.
- Erasers (TETs).
Histone modificators.
- Writers (HMTs, HATs).
  - Methylation.
    - Síndrome de Kleefstra (EHMT1).
    - Síndrome de Sotos (NSD1).
    - Síndrome de Wiedemann-Steiner (KMT2A).
    - KMT2B related dystonia.
    - Síndrome de Kleefstra tipo 2 (KMT2C).
    - Síndrome de Kabuki (KMT2D).
    - SETD1B-related neurodevelopmental disorder.
    - EZH2-related overgrowth.
    - EED-related overgrowth.
  - Acetilación.
- Erasers (HDMs, HDACs).
  - Síndrome de Kabuki (KMD6A).
  - Síndrome de Cornelia-de Lange (HDAC8).
Chromatin structure and regulation.
- Chromatin remodellers.
- Chromatin organization.
  - Cohesin complex (cohesinopathies).
    - Cornelia de Lange spectrum disorders.
  - Condensin complex.

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1.
Valencia AM, Pașca SP. Chromatin dynamics in human brain development and disease. Trends in Cell Biology [Internet]. 2022 Feb 1 [cited 2022 Nov 7];32(2):98–101. Available from: https://www.cell.com/trends/cell-biology/abstract/S0962-8924(21)00180-X

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