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Gene Review

ATRX  -  alpha thalassemia/mental retardation...

Homo sapiens

Synonyms: ATP-dependent helicase ATRX, ATR2, JMS, MRXHF1, RAD54, ...
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Disease relevance of ATRX


Psychiatry related information on ATRX

  • Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome [5].
  • METHODS.: Swiss residents in the Geneva Gay Men's Health Survey (GGMHS, n=477) were matched with controls from the Swiss Health Survey (SHS, n=477) along sex, age, nationality, and region of residence and compared along standard indicators of health status, health behaviors, and health care utilization [6].
  • Evidence-based strategies exist to help pregnant and parenting smokers to quit, to discourage young people from becoming smokers and to reduce exposure of infants to SHS [7].
  • At Samaritan Health System (SHS), an integrated health care delivery system based in Phoenix, technology management provides tools to improve decision making and assist in the system's integration strategy as well as control expenses [8].
  • We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation [9].

High impact information on ATRX

  • Moreover, at metaphase, some ATRX is localized at or close to the ribosomal DNA (rDNA) arrays on the short arms of human acrocentric chromosomes [2].
  • We have recently shown that ATRX is localized to pericentromeric heterochromatin during interphase and mitosis, suggesting that ATRX might exert other chromatin-mediated effects in the nucleus [2].
  • Here we show that mutations in ATRX give rise to changes in the pattern of methylation of several highly repeated sequences including the rDNA arrays, a Y-specific satellite and subtelomeric repeats [2].
  • Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation [2].
  • XNP mutation in a large family with Juberg-Marsidi syndrome [10].

Chemical compound and disease context of ATRX


Biological context of ATRX


Anatomical context of ATRX

  • XY patients with deletions or mutations in this gene display varying degrees of sex reversal, implicating ATRX in the development of the human testis [14].
  • Two of the new mutations result in changes in amino acids altered in previously described pedigrees with germ line ATRX mutations (ATR-X syndrome), but the hematologic abnormalities were much more severe in the patients with ATMDS than in the corresponding constitutional cases [4].
  • Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association [15].
  • Loss of ATRX protein caused widespread hypocellularity in the neocortex and hippocampus and a pronounced reduction in forebrain size [16].
  • Acquired mutations in ATRX, a chromatin remodeling gene, have recently been found in 12 patients with typical features of ATMDS, though they have not been detected in MDS patients with similar red blood cell findings but little HbH [17].

Associations of ATRX with chemical compounds


Physical interactions of ATRX

  • By immunoprecipitation from HeLa extract, we found that ATRX is in a complex with transcription cofactor Daxx [3].
  • Colocalization was observed with the phosphoserine-15 form of p53 at presumed DNA processing sites after the induction of DNA breaks. hRAD54 bound directly to the p53 COOH terminus in vitro without a nucleic acid intermediate [22].

Other interactions of ATRX

  • Taken together, the results suggest that ATRX functions in conjunction with Daxx in a novel chromatin-remodeling complex [3].
  • There is no evidence for a Y-borne ATRX homologue in mouse or human, implying that this gene has been lost in eutherians and its role supplanted by the evolution of SRY from SOX3 as the dominant determiner of male differentiation [14].
  • The pooled error rates for genomic DNA were: TPRD (A)8, TGFBR2 (A)10, and ATRX (T)13: 1%+/-0.41, 15.8%+/-1.3, and 31.3%+/-2.9, while those for RNA were: 3.8%+/-0.5, 19.3%+/-2.1, and 54.3%+/-1.8, respectively [23].
  • These results show that rAAV gene targeting requires the Rad51/Rad54 pathway of HR [24].
  • We also define a new class of variant PxVxL CSD-binding motifs in Sp100A, LBR, and ATRX [25].

Analytical, diagnostic and therapeutic context of ATRX


  1. Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). Gibbons, R.J., Pellagatti, A., Garrick, D., Wood, W.G., Malik, N., Ayyub, H., Langford, C., Boultwood, J., Wainscoat, J.S., Higgs, D.R. Nat. Genet. (2003) [Pubmed]
  2. Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Gibbons, R.J., McDowell, T.L., Raman, S., O'Rourke, D.M., Garrick, D., Ayyub, H., Higgs, D.R. Nat. Genet. (2000) [Pubmed]
  3. The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies. Xue, Y., Gibbons, R., Yan, Z., Yang, D., McDowell, T.L., Sechi, S., Qin, J., Zhou, S., Higgs, D., Wang, W. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  4. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. Steensma, D.P., Higgs, D.R., Fisher, C.A., Gibbons, R.J. Blood (2004) [Pubmed]
  5. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. Badens, C., Lacoste, C., Philip, N., Martini, N., Courrier, S., Giuliano, F., Verloes, A., Munnich, A., Leheup, B., Burglen, L., Odent, S., Van Esch, H., Levy, N. Clin. Genet. (2006) [Pubmed]
  6. Health status, behavior, and care utilization in the Geneva Gay Men's Health Survey. Wang, J., Häusermann, M., Vounatsou, P., Aggleton, P., Weiss, M.G. Preventive medicine (2007) [Pubmed]
  7. Making a difference in infant survival: evidence-based actions to reduce tobacco exposure during pregnancy and infancy in North Carolina. Melvin, C.L., Malek, S.H. North Carolina medical journal. (2004) [Pubmed]
  8. Technology management: case study of an integrated health system. Dahl, D.H., McFarlan, T.K. Hospital technology series. (1994) [Pubmed]
  9. Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Nan, X., Hou, J., Maclean, A., Nasir, J., Lafuente, M.J., Shu, X., Kriaucionis, S., Bird, A. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
  10. XNP mutation in a large family with Juberg-Marsidi syndrome. Villard, L., Gecz, J., Mattéi, J.F., Fontés, M., Saugier-Veber, P., Munnich, A., Lyonnet, S. Nat. Genet. (1996) [Pubmed]
  11. A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. Villard, L., Lacombe, D., Fontés, M. Eur. J. Hum. Genet. (1996) [Pubmed]
  12. High-level expression, purification, and some properties of a recombinant cephalosporin-C deacetylase. Takimoto, A., Yagi, S., Mitsushima, K. J. Biosci. Bioeng. (1999) [Pubmed]
  13. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. McDowell, T.L., Gibbons, R.J., Sutherland, H., O'Rourke, D.M., Bickmore, W.A., Pombo, A., Turley, H., Gatter, K., Picketts, D.J., Buckle, V.J., Chapman, L., Rhodes, D., Higgs, D.R. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  14. The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: implications for the evolution of mammalian sex determination. Pask, A., Renfree, M.B., Marshall Graves, J.A. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  15. Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association. Bérubé, N.G., Smeenk, C.A., Picketts, D.J. Hum. Mol. Genet. (2000) [Pubmed]
  16. The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. Bérubé, N.G., Mangelsdorf, M., Jagla, M., Vanderluit, J., Garrick, D., Gibbons, R.J., Higgs, D.R., Slack, R.S., Picketts, D.J. J. Clin. Invest. (2005) [Pubmed]
  17. Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome. Steensma, D.P., Viprakasit, V., Hendrick, A., Goff, D.K., Leach, J., Gibbons, R.J., Higgs, D.R. Blood (2004) [Pubmed]
  18. Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family. Aapola, U., Kawasaki, K., Scott, H.S., Ollila, J., Vihinen, M., Heino, M., Shintani, A., Kawasaki, K., Minoshima, S., Krohn, K., Antonarakis, S.E., Shimizu, N., Kudoh, J., Peterson, P. Genomics (2000) [Pubmed]
  19. ATRX, a member of the SNF2 family of helicase/ATPases, is required for chromosome alignment and meiotic spindle organization in metaphase II stage mouse oocytes. De La Fuente, R., Viveiros, M.M., Wigglesworth, K., Eppig, J.J. Dev. Biol. (2004) [Pubmed]
  20. Recombinational repair in yeast: functional interactions between Rad51 and Rad54 proteins. Clever, B., Interthal, H., Schmuckli-Maurer, J., King, J., Sigrist, M., Heyer, W.D. EMBO J. (1997) [Pubmed]
  21. Embryonic stem cells deficient for Brca2 or Blm exhibit divergent genotoxic profiles that support opposing activities during homologous recombination. Marple, T., Kim, T.M., Hasty, P. Mutat. Res. (2006) [Pubmed]
  22. p53 interacts with hRAD51 and hRAD54, and directly modulates homologous recombination. Linke, S.P., Sengupta, S., Khabie, N., Jeffries, B.A., Buchhop, S., Miska, S., Henning, W., Pedeux, R., Wang, X.W., Hofseth, L.J., Yang, Q., Garfield, S.H., Stürzbecher, H.W., Harris, C.C. Cancer Res. (2003) [Pubmed]
  23. Frequency of replication/transcription errors in (A)/(T) runs of human genes. Paoloni-Giacobino, A., Rossier, C., Papasavvas, M.P., Antonarakis, S.E. Hum. Genet. (2001) [Pubmed]
  24. Homologous recombination is required for AAV-mediated gene targeting. Vasileva, A., Linden, R.M., Jessberger, R. Nucleic Acids Res. (2006) [Pubmed]
  25. The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Lechner, M.S., Schultz, D.C., Negorev, D., Maul, G.G., Rauscher, F.J. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  26. Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. Stayton, C.L., Dabovic, B., Gulisano, M., Gecz, J., Broccoli, V., Giovanazzi, S., Bossolasco, M., Monaco, L., Rastan, S., Boncinelli, E. Hum. Mol. Genet. (1994) [Pubmed]
  27. Gene expression profiles at diagnosis in de novo childhood AML patients identify FLT3 mutations with good clinical outcomes. Lacayo, N.J., Meshinchi, S., Kinnunen, P., Yu, R., Wang, Y., Stuber, C.M., Douglas, L., Wahab, R., Becton, D.L., Weinstein, H., Chang, M.N., Willman, C.L., Radich, J.P., Tibshirani, R., Ravindranath, Y., Sikic, B.I., Dahl, G.V. Blood (2004) [Pubmed]
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