ATRX

Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae), also known as ATRX, is a human gene.cite web | title = Entrez Gene: ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=546| accessdate = ]

PBB_Summary
section_title =
summary_text = The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. This protein is found to undergo cell 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.cite web | title = Entrez Gene: ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=546| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Mulley JC, Kerr B, Stevenson R, Lubs H |title=Nomenclature guidelines for X-linked mental retardation. |journal=Am. J. Med. Genet. |volume=43 |issue= 1-2 |pages= 383–91 |year= 1992 |pmid= 1605216 |doi=
*cite journal | author=Tang P, Park DJ, Marshall Graves JA, Harley VR |title=ATRX and sex differentiation. |journal=Trends Endocrinol. Metab. |volume=15 |issue= 7 |pages= 339–44 |year= 2005 |pmid= 15350606 |doi= 10.1016/j.tem.2004.07.006
*cite journal | author=Forget BG |title=De novo and acquired forms of alpha thalassemia. |journal=Curr. Hematol. Rep. |volume=5 |issue= 1 |pages= 11–4 |year= 2006 |pmid= 16537041 |doi=
*cite journal | author=Gibbons RJ, Suthers GK, Wilkie AO, "et al." |title=X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. |journal=Am. J. Hum. Genet. |volume=51 |issue= 5 |pages= 1136–49 |year= 1992 |pmid= 1415255 |doi=
*cite journal | author=Adès LC, Kerr B, Turner G, Wise G |title=Smith-Fineman-Myers syndrome in two brothers. |journal=Am. J. Med. Genet. |volume=40 |issue= 4 |pages= 467–70 |year= 1992 |pmid= 1684092 |doi= 10.1002/ajmg.1320400419
*cite journal | author=Sutherland GR, Gedeon AK, Haan EA, "et al." |title=Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) |journal=Am. J. Med. Genet. |volume=30 |issue= 1-2 |pages= 493–508 |year= 1988 |pmid= 3177467 |doi=
*cite journal | author=Shapiro MB, Senapathy P |title=RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. |journal=Nucleic Acids Res. |volume=15 |issue= 17 |pages= 7155–74 |year= 1987 |pmid= 3658675 |doi=
*cite journal | author=Gibbons RJ, Picketts DJ, Villard L, Higgs DR |title=Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). |journal=Cell |volume=80 |issue= 6 |pages= 837–45 |year= 1995 |pmid= 7697714 |doi=
*cite journal | author=Stayton CL, Dabovic B, Gulisano M, "et al." |title=Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. |journal=Hum. Mol. Genet. |volume=3 |issue= 11 |pages= 1957–64 |year= 1995 |pmid= 7874112 |doi=
*cite journal | author=Wang LH, Collins A, Lawrence S, "et al." |title=Integration of gene maps: chromosome X. |journal=Genomics |volume=22 |issue= 3 |pages= 590–604 |year= 1995 |pmid= 8001970 |doi= 10.1006/geno.1994.1432
*cite journal | author=Gecz J, Pollard H, Consalez G, "et al." |title=Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. |journal=Hum. Mol. Genet. |volume=3 |issue= 1 |pages= 39–44 |year= 1994 |pmid= 8162050 |doi=
*cite journal | author=Villard L, Gecz J, Mattéi JF, "et al." |title=XNP mutation in a large family with Juberg-Marsidi syndrome. |journal=Nat. Genet. |volume=12 |issue= 4 |pages= 359–60 |year= 1996 |pmid= 8630485 |doi= 10.1038/ng0496-359
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Picketts DJ, Higgs DR, Bachoo S, "et al." |title=ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. |journal=Hum. Mol. Genet. |volume=5 |issue= 12 |pages= 1899–907 |year= 1997 |pmid= 8968741 |doi=
*cite journal | author=Villard L, Lacombe D, Fontés M |title=A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. |journal=Eur. J. Hum. Genet. |volume=4 |issue= 6 |pages= 316–20 |year= 1997 |pmid= 9043863 |doi=
*cite journal | author=Villard L, Lossi AM, Cardoso C, "et al." |title=Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. |journal=Genomics |volume=43 |issue= 2 |pages= 149–55 |year= 1997 |pmid= 9244431 |doi= 10.1006/geno.1997.4793
*cite journal | author=Golub EI, Kovalenko OV, Gupta RC, "et al." |title=Interaction of human recombination proteins Rad51 and Rad54. |journal=Nucleic Acids Res. |volume=25 |issue= 20 |pages= 4106–10 |year= 1997 |pmid= 9321665 |doi=
*cite journal | author=Gibbons RJ, Bachoo S, Picketts DJ, "et al." |title=Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. |journal=Nat. Genet. |volume=17 |issue= 2 |pages= 146–8 |year= 1997 |pmid= 9326931 |doi= 10.1038/ng1097-146
*cite journal | author=Cardoso C, Timsit S, Villard L, "et al." |title=Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. |journal=Hum. Mol. Genet. |volume=7 |issue= 4 |pages= 679–84 |year= 1998 |pmid= 9499421 |doi=

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