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Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
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Chromatin modification alters gene expression; therefore, scientists can add histone-modifying enzymes, histone variants, and chromatin remodeling complexes to somatic cells to aid reprogramming into pluripotent stem (iPS) cells.
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Updated: Jan 11, 2026

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ATRX: From Chromatin Remodeling to Disease.

Mauro Magaña-Acosta1, Viviana Valadez-Graham1

  • 1Departamento de Genética del Desarrollo y Fisiología Molecular, Instituto de Biotecnología, Universidad Nacional Autónoma de México, Cuernavaca, Morelos, México.

Genesis (New York, N.Y. : 2000)
|November 12, 2025
PubMed
Summary

ATRX, a chromatin remodeling protein, is crucial for development and brain function. Dysfunction causes ATR-X syndrome and may drive neurodegenerative diseases.

Keywords:
ATRXATR‐X syndromechromatin remodelingdisease

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Area of Science:

  • Molecular Biology
  • Genetics
  • Neuroscience

Background:

  • Chromatin remodeling proteins are essential for diverse biological processes.
  • ATRX is a SWI/SNF2 family chromatin remodeler with known roles in development.

Purpose of the Study:

  • To review the functions of ATRX in development and organ function.
  • To discuss ATRX dysfunction, ATR-X syndrome, and its potential role in neurodegeneration.

Main Methods:

  • Literature review of ATRX functions and associated pathologies.
  • Integration of current findings on ATRX in development, disease, and neurodegeneration.

Main Results:

  • ATRX is involved in embryonic development, sexual differentiation, and retinal/brain function.
  • ATRX dysfunction leads to ATR-X syndrome, with specific clinical features and potential diagnostic markers.
  • Emerging evidence suggests ATRX involvement in neurodegenerative disease progression.

Conclusions:

  • ATRX plays vital roles in normal biological processes and development.
  • Understanding ATRX is key for diagnosing and potentially treating ATR-X syndrome.
  • Further research into ATRX's role in neurodegeneration is warranted.