Transcriptional regulator ATRX also known asATP-dependent helicase ATRX,X-linked helicase II, orX-linked nuclear protein (XNP) is aprotein that in humans is encoded by theATRXgene.[5][6][7]
Transcriptional regulator ATRX contains anATPase /helicase domain, and thus it belongs to theSWI/SNF family ofchromatin remodeling proteins. ATRX is required for deposition of the histone variantH3.3 attelomeres and other genomic repeats.[8] These interactions are important for maintaining silencing at these sites.[9][10][11]
In addition, ATRX undergoescell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis.[7]
Inherited mutations of the ATRX gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied byalpha-thalassemia (ATR-X) syndrome. These mutations have been shown to cause diverse changes in the pattern ofDNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. Female carriers may demonstrate skewedX chromosome inactivation.[7]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Stayton CL, Dabovic B, Gulisano M, Gecz J, Broccoli V, Giovanazzi S, et al. (November 1994). "Cloning and characterization of a new human Xq13 gene, encoding a putative helicase".Human Molecular Genetics.3 (11):1957–64.doi:10.1093/hmg/3.11.1957.PMID7874112.
Mulley JC, Kerr B, Stevenson R, Lubs H (1992). "Nomenclature guidelines for X-linked mental retardation".American Journal of Medical Genetics.43 (1–2):383–91.doi:10.1002/ajmg.1320430159.PMID1605216.
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Sutherland GR, Gedeon AK, Haan EA, Woodroffe P, Mulley JC (1988). "Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)".American Journal of Medical Genetics.30 (1–2):493–508.doi:10.1002/ajmg.1320300152.PMID3177467.
Wang LH, Collins A, Lawrence S, Keats BJ, Morton NE (August 1994). "Integration of gene maps: chromosome X".Genomics.22 (3):590–604.doi:10.1006/geno.1994.1432.PMID8001970.
Gecz J, Pollard H, Consalez G, Villard L, Stayton C, Millasseau P, Khrestchatisky M, Fontes M (January 1994). "Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3".Human Molecular Genetics.3 (1):39–44.doi:10.1093/hmg/3.1.39.PMID8162050.
Villard L, Gecz J, Mattéi JF, Fontés M, Saugier-Veber P, Munnich A, Lyonnet S (April 1996). "XNP mutation in a large family with Juberg-Marsidi syndrome".Nature Genetics.12 (4):359–60.doi:10.1038/ng0496-359.PMID8630485.S2CID33759894.
Villard L, Lacombe D, Fontés M (1997). "A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia".European Journal of Human Genetics.4 (6):316–20.doi:10.1159/000472225.PMID9043863.S2CID43618843.
Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontés M (July 1997). "Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase".Genomics.43 (2):149–55.doi:10.1006/geno.1997.4793.PMID9244431.
