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ATRX

  • Living reference work entry
  • First Online:
Encyclopedia of Pathology

Part of the book series: Encyclopedia of Pathology ((EP))

  • 40 Accesses

Synonyms

RAD54 homolog (S. cerevisiae); XH2; XNP

Definition

ATRX gene was first discovered through efforts to identify the genetic lesion that contributes to the Alpha-Thalassemia Mental Retardation X-linked syndrome (Gibbons et al. 1995).

ATRX gene is localized to Xq21.1 (genomic coordinates, GRCh38: X:77,504,877-77,786,234) and its transcript coding sequence is 7,479 nt long (LRG_1108) and has 35 exons.

The ATRX protein is part of the SWI/SNF2 (SWItch/Sucrose Non-Fermentable) family of chromatin remodeling proteins and, in combination with the transcription cofactor, DAXX (death domain associated protein), maintains genomic stability through its deposition of the replication-independent histone variant H3.3 at telomeres and pericentromeric heterochromatin (Schwartzentruber et al. 2012).

The main functions for ATRX protein include: chromatin remodeling, interactions with histone variants, and cell cycle regulation.

Features

ATRX is a nuclear protein that localizes to nuclear...

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References and Further Reading

  • Gibbons, R. J. (2012). α-Thalassemia, mental retardation, and myelodysplastic syndrome. Cold Spring Harbor Perspectives in Medicine, 2, a011759.

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  • Gibbons, R. J., Picketts, D. J., Villard, L., et al. (1995). Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell, 80(6), 837–845.

    Article  CAS  Google Scholar 

  • Jiao, Y. (2011). DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science, 331, 1199–1203.

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  • Law, M. J., Lower, K. M., Voon, H. P. J., et al. (2010). ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner. Cell, 143(3), 367–378.

    Article  CAS  Google Scholar 

  • Schwartzentruber, J., Korshunov, A., Liu, X. Y., et al. (2012). Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature, 482(7384), 226–231.

    Article  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Medicine and Surgery, University of Insubria, Varese, Italy

    Daniela Furlan

  2. Department of Pathology, ASST Sette-Laghi, Varese, Italy

    Nora Sahnane

Authors
  1. Daniela Furlan
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  2. Nora Sahnane
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Corresponding author

Correspondence to Daniela Furlan .

Editor information

Editors and Affiliations

  1. NIJMEGEN, The Netherlands

    J.H.J.M. van Krieken

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Furlan, D., Sahnane, N. (2020). ATRX. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5149-1

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  • DOI: https://doi.org/10.1007/978-3-319-28845-1_5149-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-28845-1

  • Online ISBN: 978-3-319-28845-1

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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