The NSD1 and EZH2 overgrowth genes, similarities and differences

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 163, Issue 2, 2013, Pages 86-91

  Tatton Brown, Katrina ^a,b   Rahman, Nazneen ^c  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b Royal Marsden Hospital   (United Kingdom)

^c INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

EZH2; Histone methyltransferases; NSD1; Sotos; Weaver

Indexed keywords

HISTONE METHYLTRANSFERASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR EZH2; TRANSCRIPTION FACTOR NSD1; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; ARTICLE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME MECHANISM; EXON; GENE FUNCTION; HAPLOINSUFFICIENCY; HEMATOLOGIC MALIGNANCY; HISTONE MODIFICATION; HUMAN; LEUKEMOGENESIS; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NONHUMAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTO ONCOGENE; SOMATIC MUTATION; SOTOS SYNDROME; SYNDROME; TRANSCRIPTION REGULATION; WEAVER SYNDROME;

GERM-LINE MUTATION; GROWTH; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; NUCLEAR PROTEINS; POLYCOMB REPRESSIVE COMPLEX 2; PROTO-ONCOGENES;

EID: 84876797601     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31359     Document Type: Article

References (28)

1. Berdasco M, Ropero S, Setien F, Fraga MF, Lapunzina P, Losson R, Alaminos M, Cheung NK, Rahman N, Esteller M. 2009. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Proc Natl Acad Sci USA 106:21830-21835.
2. Cao R, Wang L, Wang H, Xia L, Erdjument-Bromage H, Tempst P, Jones RS, Zhang Y. 2002. Role of histone H3 lysine 27 methylation in Polycomb-group silencing. Science 298:1039-1043.
3. Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco L, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. 2005. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet Part A 134A:247-253.
4. Cerveira N, Correia C, Doria S, Bizarro S, Rocha P, Gomes P, Torres L, Norton L, Borges BS, Castedo S, Teixeira MR. 2003. Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia. Leukemia 17:2244-2247.
5. Chase A, Cross NC. 2011. Aberrations of EZH2 in cancer. Clin Cancer Res 17:2613-2618.
6. Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N. 2003. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 72:132-143.
7. Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV, Waghorn K, Zoi K, Ross FM, Reiter A, Hochhaus A, Drexler HG, Duncombe A, Cervantes F, Oscier D, Boultwood J, Grand FH, Cross NC. 2010. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet 42:722-726.
8. Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA, Canada FORGE Consortium, Chitayat D, Boycott KM, Weaver DD, Jones SJ, 2012. Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet 90:110-118.
9. Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R. 1998. Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. EMBO J 17:3398-3412.
10. Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N. 2003. Identification of eight novel NSD1 mutations in Sotos syndrome. J Med Genet 40:e126.
11. Kouzarides T. 2002. Histone methylation in transcriptional control. Curr Opin Genet Dev 12:198-209.
12. Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. 2002. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30:365-366.
13. Morin RD, Johnson NA, Severson TM, Mungall AJ, An J, Goya R, Paul JE, Boyle M, Woolcock BW, Kuchenbauer F, Yap D, Humphries RK, Griffith OL, Shah S, Zhu H, Kimbara M, Shashkin P, Charlot JF, Tcherpakov M, Corbett R, Tam A, Varhol R, Smailus D, Moksa M, Zhao Y, Delaney A, Qian H, Birol I, Schein J, Moore R, Holt R, Horsman DE, Connors JM, Jones S, Aparicio S, Hirst M, Gascoyne RD, Marra MA. 2010. Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin. Nat Genet 42:181-185.
14. Nikoloski G, Langemeijer SM, Kuiper RP, Knops R, Massop M, Tonnissen ER, van der Heijden A, Scheele TN, Vandenberghe P, de Witte T, van der Reijden BA, Jansen JH. 2010. Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nat Genet 42:665-667.
15. O'Carroll D, Erhardt S, Pagani M, Barton SC, Surani MA, Jenuwein T. 2001. The polycomb-group gene Ezh2 is required for early mouse development. Mol Cell Biol 21:4330-4336.
16. Qiao Q, Li Y, Chen Z, Wang M, Reinberg D, Xu RM. 2011. The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. J Biol Chem 286:8361-8368.
17. Rayasam GV, Wendling O, Angrand PO, Mark M, Niederreither K, Song L, Lerouge T, Hager GL, Chambon P, Losson R. 2003. NSD1 is essential for early post-implantation development and has a catalytically active SET domain. EMBO J 22:3153-3163.
18. Rea S, Eisenhaber F, O'Carroll D, Strahl BD, Sun ZW, Schmid M, Opravil S, Mechtler K, Ponting CP, Allis CD, Jenuwein T. 2000. Regulation of chromatin structure by site-specific histone H3 methyltransferases. Nature 406:593-599.
19. Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. 2003. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 40:436-440.
20. Sauvageau M, Sauvageau G. 2010. Polycomb group proteins: Multi-faceted regulators of somatic stem cells and cancer. Cell Stem Cell 7:299-313.
21. Sneeringer CJ, Scott MP, Kuntz KW, Knutson SK, Pollock RM, Richon VM, Copeland RA. 2010. Coordinated activities of wild-type plus mutant EZH2 drive tumor-associated hypertrimethylation of lysine 27 on histone H3 (H3K27) in human B-cell lymphomas. Proc Natl Acad Sci USA 107:20980-20985.
22. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N. 2005a. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet 42:307-313.
23. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N. 2005b. Genotype-phenotype associations in Sotos syndrome: An analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 77:193-204.
24. Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T, Douglas J, Rahman N. 2011. Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget 2:1127-1133.
25. Turkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. 2003. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet 11:858-865.
26. Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S. 2005. NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory. Genet Med 7:524-533.
27. Wagner EJ, Carpenter PB. 2012. Understanding the language of Lys36 methylation at histone H3. Nat Rev Mol Cell Biol 13:115-126.
28. Wang GG, Cai L, Pasillas MP, Kamps MP. 2007. NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis. Nat Cell Biol 9:804-812.