ATRX

From Wikipedia, the free encyclopedia

Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)

Identifiers

ATRX; ATR2; MGC2094; MRXS3; RAD54; RAD54L; SHS; XH2; XNP; ZNF-HX

External IDs

OMIM: 300032 MGI: 103067 HomoloGene: 416

Gene ontology
Molecular Function:	• nucleotide binding • DNA helicase activity • chromatin binding • transcription factor activity • protein binding • ATP binding • zinc ion binding • hydrolase activity • metal ion binding • DNA binding • helicase activity
Cellular Component:	• nuclear chromosome • nucleus • nuclear heterochromatin
Biological Process:	• DNA repair • DNA methylation • DNA recombination • regulation of transcription, DNA-dependent • chromosome organization and biogenesis (sensu Eukaryota) • sensory perception of sound • forebrain development

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_000489 (mRNA)
NP_000480 (protein)

NM_009530 (mRNA)
NP_033556 (protein)

Location

n/a

Chr X: 102 - 102.13 Mb

Pubmed search

[1]

[2]

Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae), also known as ATRX, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae).

[edit] Further reading

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