ATRX

ATRX（alpha thalassemia/mental retardation syndrome X-linked）は、ヒトではATRX遺伝子にコードされるタンパク質である。 転写調節因子ATRXはATPアーゼ/ヘリカーゼドメインを持つ、SWI/SNFファミリーのクロマチンリモデリング因子である。ATRXはテロメアやその他ゲノム上の反復領域へのヒストンバリアントH3.3の蓄積に必要である。その作用は、こうした部位でのサイレンシングの維持に重要である。 ATRXは細胞周期依存的なリン酸化を受け、核マトリックス（英語版）やクロマチンへの結合が調節されている。このことは、ATRXが間期における遺伝子調節や有糸分裂時の染色体分離に関与していることを示唆している。 ATRX遺伝子の遺伝性変異は、ATR-X症候群と関係している。こうした変異はDNAメチル化パターンに多様な変化を引き起こすことから、ATRXは発生過程におけるクロマチンリモデリング、DNAメチル化、そして遺伝子発現を関連付けている可能性がある。女性の変異保因者では偏った（skewed）X染色体不活性化がみられる。 ATRXの後天的変異は、膵神経内分泌腫瘍（英語版）、神経膠腫、骨肉腫、悪性褐色細胞腫など、いくつかのがんで報告されている。がんでは、ATRXの変異とテロメラーゼ非依存的なテロメア伸長（alternative lengthening of telomere、ALT）との強い相関がみられる。 ATRXは、H3.3に対するシャペロン（ヒストンシャペロン）であるDAXX（英語版）と複合体を形成する。 ATRXはEZH2と相互作用することも示されている。 ^ a b c GRCh38: Ensembl release 89: ENSG00000085224 - Ensembl, May 2017 ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031229 - Ensembl, May 2017 ^ Human PubMed Reference: ^ Mouse PubMed Reference: ^ Stayton, C. 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(February 2005). doi:10.1172/JCI22329. PMC 544602. PMID 15668733. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC544602/.  ATR-X症候群 GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia X-Linked Mental Retardation Syndrome; ATRX Syndrome; Alpha Thalassemia/Mental Retardation, X-Linked; XLMR-Hypotonic Face Syndrome OMIM entries on Alpha-Thalassemia X-Linked Mental Retardation Syndrome Human ATRX genome location and ATRX gene details page in the UCSC Genome Browser. Human RAD54L genome location and RAD54L gene details page in the UCSC Genome Browser.