Transkripcijski regulator ATRX

Transkripcijski regulator ATRX
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2JM1, 2LBM, 2LD1, 3QL9, 3QLA, 3QLC, 3QLN, 4W5A
Identifikatori
Aliasi	ATRX
Vanjski ID-jevi	OMIM: 300032 MGI: 103067 HomoloGene: 416 GeneCards: ATRX
Lokacija gena (čovjek)
Hrom.	Hromosom X
Kraj	77,786,233 bp
Lokacija gena (miš)
Hrom.	Hromosom X (miš)
Kraj	104,973,009 bp
Ontologija gena
Molekularna funkcija	• vezivanje sa DNK; • nucleotide binding; • chromo shadow domain binding; • GO:0008026 helicase activity; • GO:0031493 histone binding; • vezivanje iona metala; • DNA translocase activity; • methylated histone binding; • GO:0004003 DNA helicase activity; • GO:0001948, GO:0016582 vezivanje za proteine; • hydrolase activity; • ATP binding; • chromatin binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Ćelijska komponenta	• PML body; • SWI/SNF superfamily-type complex; • pericentric heterochromatin; • hromosom; • GO:0035328 heterochromatin; • nuclear chromosome; • Telomera; • jedro; • nukleoplazma; • nuclear body;
Biološki proces	• chromatin remodeling; • nucleosome assembly; • DNA recombination; • post-embryonic forelimb morphogenesis; • GO:0009373 regulation of transcription, DNA-templated; • multicellular organism growth; • DNA damage response, signal transduction by p53 class mediator; • positive regulation of nuclear cell cycle DNA replication; • Sertoli cell development; • transcription, DNA-templated; • protein localization to chromosome, telomeric region; • cellular response to DNA damage stimulus; • positive regulation of telomeric RNA transcription from RNA pol II promoter; • positive regulation of telomere maintenance; • Metilacija DNK; • negative regulation of telomeric RNA transcription from RNA pol II promoter; • seminiferous tubule development; • Spermatogeneza; • replication fork processing; • negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric; • forebrain development; • GO:0100026 Popravka DNK; • cellular response to hydroxyurea; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • DNA duplex unwinding; • regulation of histone H3-K9 trimethylation; • GO:0043147 meiotic spindle organization; • GO:0051178 chromosome organization involved in meiotic cell cycle; • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization;
	Izvori:Amigo / QuickGO
Ortolozi
	546
	22589
	ENSG00000085224
	ENSMUSG00000031229
	P46100
	Q61687
	NM_000489; NM_138270; NM_138271
	NM_009530
	NP_000480; NP_612114
	NP_033556
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Transkripcijski regulator ATRX znan i kao ATP-ovisna helikaza ATRX, X-vezana helikaza II, ili X-vezani jedarni protein (XNP) jest protein koji je kod ljudi kodiran genom ATRX sa hromosoma X.^[5]^[6]^[7]

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 2.492 aminokiseline, a molekulska težina 282.586 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MTAEPMSESK	LNTLVQKLHD	FLAHSSEESE	ETSSPPRLAM	NQNTDKISGS
GSNSDMMENS	KEEGTSSSEK	SKSSGSSRSK	RKPSIVTKYV	ESDDEKPLDD
ETVNEDASNE	NSENDITMQS	LPKGTVIVQP	EPVLNEDKDD	FKGPEFRSRS
KMKTENLKKR	GEDGLHGIVS	CTACGQQVNH	FQKDSIYRHP	SLQVLICKNC
FKYYMSDDIS	RDSDGMDEQC	RWCAEGGNLI	CCDFCHNAFC	KKCILRNLGR
KELSTIMDEN	NQWYCYICHP	EPLLDLVTAC	NSVFENLEQL	LQQNKKKIKV
DSEKSNKVYE	HTSRFSPKKT	SSNCNGEEKK	LDDSCSGSVT	YSYSALIVPK
EMIKKAKKLI	ETTANMNSSY	VKFLKQATDN	SEISSATKLR	QLKAFKSVLA
DIKKAHLALE	EDLNSEFRAM	DAVNKEKNTK	EHKVIDAKFE	TKARKGEKPC
ALEKKDISKS	EAKLSRKQVD	SEHMHQNVPT	EEQRTNKSTG	GEHKKSDRKE
EPQYEPANTS	EDLDMDIVSV	PSSVPEDIFE	NLETAMEVQS	SVDHQGDGSS
GTEQEVESSS	VKLNISSKDN	RGGIKSKTTA	KVTKELYVKL	TPVSLSNSPI
KGADCQEVPQ	DKDGYKSCGL	NPKLEKCGLG	QENSDNEHLV	ENEVSLLLEE
SDLRRSPRVK	TTPLRRPTET	NPVTSNSDEE	CNETVKEKQK	LSVPVRKKDK
RNSSDSAIDN	PKPNKLPKSK	QSETVDQNSD	SDEMLAILKE	VSRMSHSSSS
DTDINEIHTN	HKTLYDLKTQ	AGKDDKGKRK	RKSSTSGSDF	DTKKGKSAKS
SIISKKKRQT	QSESSNYDSE	LEKEIKSMSK	IGAARTTKKR	IPNTKDFDSS
EDEKHSKKGM	DNQGHKNLKT	SQEGSSDDAE	RKQERETFSS	AEGTVDKDTT
IMELRDRLPK	KQQASASTDG	VDKLSGKEQS	FTSLEVRKVA	ETKEKSKHLK
TKTCKKVQDG	LSDIAEKFLK	KDQSDETSED	DKKQSKKGTE	EKKKPSDFKK
KVIKMEQQYE	SSSDGTEKLP	EREEICHFPK	GIKQIKNGTT	DGEKKSKKIR
DKTSKKKDEL	SDYAEKSTGK	GDSCDSSEDK	KSKNGAYGRE	KKRCKLLGKS
SRKRQDCSSS	DTEKYSMKED	GCNSSDKRLK	RIELRERRNL	SSKRNTKEIQ
SGSSSSDAEE	SSEDNKKKKQ	RTSSKKKAVI	VKEKKRNSLR	TSTKRKQADI
TSSSSSDIED	DDQNSIGEGS	SDEQKIKPVT	ENLVLSSHTG	FCQSSGDEAL
SKSVPVTVDD	DDDDNDPENR	IAKKMLLEEI	KANLSSDEDG	SSDDEPEEGK
KRTGKQNEEN	PGDEEAKNQV	NSESDSDSEE	SKKPRYRHRL	LRHKLTVSDG
ESGEEKKTKP	KEHKEVKGRN	RRKVSSEDSE	DSDFQESGVS	EEVSESEDEQ
RPRTRSAKKA	ELEENQRSYK	QKKKRRRIKV	QEDSSSENKS	NSEEEEEEKE
EEEEEEEEEE	EEEEDENDDS	KSPGKGRKKI	RKILKDDKLR	TETQNALKEE
EERRKRIAER	EREREKLREV	IEIEDASPTK	CPITTKLVLD	EDEETKEPLV
QVHRNMVIKL	KPHQVDGVQF	MWDCCCESVK	KTKKSPGSGC	ILAHCMGLGK
TLQVVSFLHT	VLLCDKLDFS	TALVVCPLNT	ALNWMNEFEK	WQEGLKDDEK
LEVSELATVK	RPQERSYMLQ	RWQEDGGVMI	IGYEMYRNLA	QGRNVKSRKL
KEIFNKALVD	PGPDFVVCDE	GHILKNEASA	VSKAMNSIRS	RRRIILTGTP
LQNNLIEYHC	MVNFIKENLL	GSIKEFRNRF	INPIQNGQCA	DSTMVDVRVM
KKRAHILYEM	LAGCVQRKDY	TALTKFLPPK	HEYVLAVRMT	SIQCKLYQYY
LDHLTGVGNN	SEGGRGKAGA	KLFQDFQMLS	RIWTHPWCLQ	LDYISKENKG
YFDEDSMDEF	IASDSDETSM	SLSSDDYTKK	KKKGKKGKKD	SSSSGSGSDN
DVEVIKVWNS	RSRGGGEGNV	DETGNNPSVS	LKLEESKATS	SSNPSSPAPD
WYKDFVTDAD	AEVLEHSGKM	VLLFEILRMA	EEIGDKVLVF	SQSLISLDLI
EDFLELASRE	KTEDKDKPLI	YKGEGKWLRN	IDYYRLDGST	TAQSRKKWAE
EFNDETNVRG	RLFIISTKAG	SLGINLVAAN	RVIIFDASWN	PSYDIQSIFR
VYRFGQTKPV	YVYRFLAQGT	MEDKIYDRQV	TKQSLSFRVV	DQQQVERHFT
MNELTELYTF	EPDLLDDPNS	EKKKKRDTPM	LPKDTILAEL	LQIHKEHIVG
YHEHDSLLDH	KEEEELTEEE	RKAAWAEYEA	EKKGLTMRFN	IPTGTNLPPV
SFNSQTPYIP	FNLGALSAMS	NQQLEDLINQ	GREKVVEATN	SVTAVRIQPL
EDIISAVWKE	NMNLSEAQVQ	ALALSRQASQ	ELDVKRREAI	YNDVLTKQQM
LISCVQRILM	NRRLQQQYNQ	QQQQQMTYQQ	ATLGHLMMPK	PPNLIMNPSN
YQQIDMRGMY	QPVAGGMQPP	PLQRAPPPMR	SKNPGPSQGK	SM

Funkcija uredi

Transkripcijski regulator ATRX sadrži domen ATPaza/helikaza i stoga pripada SWI/SNF porodici proteina hromatinskog remodeliranja. ATRX je neophodan za taloženje histonske varijante H3.3 na telomerama i drugih genomskih ponavljanja.^[8] Ove interakcije su važne za održavanje utišavanja na ovim lokusima.^[9]^[10]^[11]

Osim toga, ATRX prolazi kroz fosforilacije ovisno o ćelijskom ciklusu, koje reguliraju njegovu jedarnu matricu i asocijaciju hromatina, sugerirajući njegovu uključenost u regulaciju gena u interfazi i hromosomsku segregaciju u mitozi.^[7]

Klinički značaj uredi

Naslijeđene mutacije uredi

Naslijeđene mutacije gena ATRX povezane su sa X-vezanim sindromom mentalne retardacije (XLMR) sindromom koji je najčešće praćen alfa-talasemijjskim sindromom mentalne retardacije (sindrom ATR-X). Pokazalo se da ove mutacije uzrokuju različite promjene u obrascu metilacije DNK, što može potvrditi vezu između remodeliranja hromatina, metilacije DNK i ekspresije gena u razvojnim procesima. Zabilježeno je više alternativno prertađemih varijanti transkripta koje kodiraju različite izoforme. Žene nositeljice mogu pokazati iskrivljenu inaktivacija X hromosoma.^[7]

Somatske mutacije uredi

Stečene mutacije u ATRX-u prijavljene su u brojnim ljudskim karcinomima, uključujući neuroendokrine tumore pankreasa,^[12] gliome,^[13] astrocitome,^[14] osteosarkome,^[15] i maligne feohromocitome.^[16] Postoji jaka korelacija između ATRX mutacija i fenotipa alternativne elongacije telomera (ALT) kod karcinoma.^[12]

Interakcije uredi

ATRX formira kompleks sa DAXX koji je šaperon histona H3.3.^[17]

Također se pokazalo da ATRX ima interakcije sa EZH2.^[18]

Tgakođer pogledajte uredi

Sindrom alfa-talasemijske mentalne retardacije

Reference uredi

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000085224 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031229 - Ensembl, maj 2017
^ "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. (novembar 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. PMID 7874112.
^ Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR (novembar 1992). "X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis". American Journal of Human Genetics. 51 (5): 1136–49. PMC 1682840. PMID 1415255.
^ ^a ^b ^c ^d "Entrez Gene: ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)".
^ Wong LH, McGhie JD, Sim M, Anderson MA, Ahn S, Hannan RD, et al. (mart 2010). "ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells". Genome Research. 20 (3): 351–60. doi:10.1101/gr.101477.109. PMC 2840985. PMID 20110566.
^ Voon HP, Hughes JR, Rode C, De La Rosa-Velázquez IA, Jenuwein T, Feil R, et al. (april 2015). "ATRX Plays a Key Role in Maintaining Silencing at Interstitial Heterochromatic Loci and Imprinted Genes". Cell Reports. 11 (3): 405–18. doi:10.1016/j.celrep.2015.03.036. PMC 4410944. PMID 25865896.
^ Elsässer SJ, Noh KM, Diaz N, Allis CD, Banaszynski LA (juni 2015). "Histone H3.3 is required for endogenous retroviral element silencing in embryonic stem cells". Nature. 522 (7555): 240–4. doi:10.1038/nature14345. PMC 4509593. PMID 25938714.
^ Udugama M, M Chang FT, Chan FL, Tang MC, Pickett HA, R McGhie JD, et al. (decembar 2015). "Histone variant H3.3 provides the heterochromatic H3 lysine 9 tri-methylation mark at telomeres". Nucleic Acids Research. 43 (21): 10227–37. doi:10.1093/nar/gkv847. PMC 4666390. PMID 26304540.
^ ^a ^b Heaphy CM, de Wilde RF, Jiao Y, Klein AP, Edil BH, Shi C, et al. (juli 2011). "Altered telomeres in tumors with ATRX and DAXX mutations". Science. 333 (6041): 425. doi:10.1126/science.1207313. PMC 3174141. PMID 21719641.
^ Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, et al. (januar 2012). "Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma". Nature. 482 (7384): 226–31. doi:10.1038/nature10833. PMID 22286061. S2CID 4312169.
^ Kannan K, Inagaki A, Silber J, Gorovets D, Zhang J, Kastenhuber ER, et al. (oktobar 2012). "Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma". Oncotarget. 3 (10): 1194–203. doi:10.18632/oncotarget.689. PMC 3717947. PMID 23104868.
^ Chen X, Bahrami A, Pappo A, Easton J, Dalton J, Hedlund E, et al. (april 2014). "Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma". Cell Reports. 7 (1): 104–12. doi:10.1016/j.celrep.2014.03.003. PMC 4096827. PMID 24703847.
^ Comino-Méndez, I (juni 2016). "ATRX driver mutation in a composite malignant pheochromocytoma". Cancer Genetics. 209 (6): 272–7. doi:10.1016/j.cancergen.2016.04.058. PMID 27209355.
^ Lewis PW, Elsaesser SJ, Noh KM, Stadler SC, Allis CD (august 2010). "Daxx is an H3.3-specific histone chaperone and cooperates with ATRX in replication-independent chromatin assembly at telomeres". Proceedings of the National Academy of Sciences of the United States of America. 107 (32): 14075–80. doi:10.1073/pnas.1008850107. PMC 2922592. PMID 20651253.
^ Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontès M, Colleaux L (april 1998). "Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein". Human Molecular Genetics. 7 (4): 679–84. doi:10.1093/hmg/7.4.679. PMID 9499421.

Dopunska literatura uredi

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. PMID 1605216.
Tang P, Park DJ, Marshall Graves JA, Harley VR (septembar 2004). "ATRX and sex differentiation". Trends in Endocrinology and Metabolism. 15 (7): 339–44. doi:10.1016/j.tem.2004.07.006. PMID 15350606. S2CID 22192941.
Forget BG (mart 2006). "De novo and acquired forms of alpha thalassemia". Current Hematology Reports. 5 (1): 11–4. PMID 16537041.
Adès LC, Kerr B, Turner G, Wise G (septembar 1991). "Smith-Fineman-Myers syndrome in two brothers". American Journal of Medical Genetics. 40 (4): 467–70. doi:10.1002/ajmg.1320400419. PMID 1684092.
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. PMID 3177467. CS1 održavanje: nepreporučeni parametar (link)
Shapiro MB, Senapathy P (septembar 1987). "RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression". Nucleic Acids Research. 15 (17): 7155–74. doi:10.1093/nar/15.17.7155. PMC 306199. PMID 3658675.
Gibbons RJ, Picketts DJ, Villard L, Higgs DR (mart 1995). "Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)". Cell. 80 (6): 837–45. doi:10.1016/0092-8674(95)90287-2. PMID 7697714.
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. PMID 8001970.
Gecz J, Pollard H, Consalez G, Villard L, Stayton C, Millasseau P, Khrestchatisky M, Fontes M (januar 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. PMID 8162050.
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. PMID 8630485. S2CID 33759894.
Bonaldo MF, Lennon G, Soares MB (septembar 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Picketts DJ, Higgs DR, Bachoo S, Blake DJ, Quarrell OW, Gibbons RJ (decembar 1996). "ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome". Human Molecular Genetics. 5 (12): 1899–907. doi:10.1093/hmg/5.12.1899. 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". European Journal of Human Genetics. 4 (6): 316–20. doi:10.1159/000472225. PMID 9043863. S2CID 43618843.
Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontés M (juli 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, Ward DC, Radding CM (oktobar 1997). "Interaction of human recombination proteins Rad51 and Rad54". Nucleic Acids Research. 25 (20): 4106–10. doi:10.1093/nar/25.20.4106. PMC 147015. PMID 9321665.
Gibbons RJ, Bachoo S, Picketts DJ, Aftimos S, Asenbauer B, Bergoffen J, Berry SA, Dahl N, Fryer A, Keppler K, Kurosawa K, Levin ML, Masuno M, Neri G, Pierpont ME, Slaney SF, Higgs DR (oktobar 1997). "Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain". Nature Genetics. 17 (2): 146–8. doi:10.1038/ng1097-146. PMID 9326931. S2CID 12470300.
Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontès M, Colleaux L (april 1998). "Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein". Human Molecular Genetics. 7 (4): 679–84. doi:10.1093/hmg/7.4.679. PMID 9499421.
Bérubé NG, Mangelsdorf M, Jagla M, Vanderluit J, Garrick D, Gibbons RJ, Higgs DR, Slack RS, Picketts DJ (februar 2005). "The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis". The Journal of Clinical Investigation. 115 (2): 258–67. doi:10.1172/JCI22329. PMC 544602. PMID 15668733.

Vanjski linkovi uredi

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
Lokacija ljudskog genoma ATRX i stranica sa detaljima o genu ATRX u UCSC Genome Browseru.
Lokacija ljudskog genoma RAD54L i stranica sa detaljima o genu RAD54L u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000085224 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031229 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Stayton_1994-5] Stayton CL, Dabovic B, Gulisano M, Gecz J, Broccoli V, Giovanazzi S, et al. (novembar 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. PMID 7874112.

[Gibbons_1992-6] Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR (novembar 1992). "X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis". American Journal of Human Genetics. 51 (5): 1136–49. PMC 1682840. PMID 1415255.

[entrez-7] "Entrez Gene: ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)".

[Wong_2010-8] Wong LH, McGhie JD, Sim M, Anderson MA, Ahn S, Hannan RD, et al. (mart 2010). "ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells". Genome Research. 20 (3): 351–60. doi:10.1101/gr.101477.109. PMC 2840985. PMID 20110566.

[Voon_2015-9] Voon HP, Hughes JR, Rode C, De La Rosa-Velázquez IA, Jenuwein T, Feil R, et al. (april 2015). "ATRX Plays a Key Role in Maintaining Silencing at Interstitial Heterochromatic Loci and Imprinted Genes". Cell Reports. 11 (3): 405–18. doi:10.1016/j.celrep.2015.03.036. PMC 4410944. PMID 25865896.

[Elsässer_2015-10] Elsässer SJ, Noh KM, Diaz N, Allis CD, Banaszynski LA (juni 2015). "Histone H3.3 is required for endogenous retroviral element silencing in embryonic stem cells". Nature. 522 (7555): 240–4. doi:10.1038/nature14345. PMC 4509593. PMID 25938714.

[Udugama_2015-11] Udugama M, M Chang FT, Chan FL, Tang MC, Pickett HA, R McGhie JD, et al. (decembar 2015). "Histone variant H3.3 provides the heterochromatic H3 lysine 9 tri-methylation mark at telomeres". Nucleic Acids Research. 43 (21): 10227–37. doi:10.1093/nar/gkv847. PMC 4666390. PMID 26304540.

[Heaphy_2011-12] Heaphy CM, de Wilde RF, Jiao Y, Klein AP, Edil BH, Shi C, et al. (juli 2011). "Altered telomeres in tumors with ATRX and DAXX mutations". Science. 333 (6041): 425. doi:10.1126/science.1207313. PMC 3174141. PMID 21719641.

[Schwartzentruber_2012-13] Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, et al. (januar 2012). "Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma". Nature. 482 (7384): 226–31. doi:10.1038/nature10833. PMID 22286061. S2CID 4312169.

[Kannan_2012-14] Kannan K, Inagaki A, Silber J, Gorovets D, Zhang J, Kastenhuber ER, et al. (oktobar 2012). "Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma". Oncotarget. 3 (10): 1194–203. doi:10.18632/oncotarget.689. PMC 3717947. PMID 23104868.

[Chen_2014-15] Chen X, Bahrami A, Pappo A, Easton J, Dalton J, Hedlund E, et al. (april 2014). "Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma". Cell Reports. 7 (1): 104–12. doi:10.1016/j.celrep.2014.03.003. PMC 4096827. PMID 24703847.

[16] Comino-Méndez, I (juni 2016). "ATRX driver mutation in a composite malignant pheochromocytoma". Cancer Genetics. 209 (6): 272–7. doi:10.1016/j.cancergen.2016.04.058. PMID 27209355.

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