MLL2
From Wikipedia, the free encyclopedia
Histone-lysine N-methyltransferase MLL2 is an enzyme that in humans is encoded by the MLL2 gene.[1][2] The gene is located on chromosome 12.This is a Trithorax-group protein.
The gene was originally named MLL2 after myeloid/lymphoid or mixed-lineage leukemia cases. It is now understood that its effect in lymphomagenesis is via the disruption of chromatin regulation.[3]
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[edit] Clinical significance
Two thirds of a sample of 53 cases of Kabuki Syndrome have a loss-of-function mutation in the MLL2 gene.[4]
Mutations of this gene are also associated with medulloblastoma.[5]
[edit] References
- ^ Prasad R, Zhadanov AB, Sedkov Y, Bullrich F, Druck T, Rallapalli R, Yano T, Alder H, Croce CM, Huebner K, Mazo A, Canaani E (Aug 1997). "Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax". Oncogene 15 (5): 549–60. doi:10.1038/sj.onc.1201211. PMID 9247308.
- ^ "Entrez Gene: MLL2 myeloid/lymphoid or mixed-lineage leukemia 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8085.
- ^ Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA (August 2011). "Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma". Nature 476 (7360): 298–303. doi:10.1038/nature10351. PMC 3210554. PMID 21796119.
- ^ Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J (September 2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nat. Genet. 42 (9): 790–3. doi:10.1038/ng.646. PMC 2930028. PMID 20711175.
- ^ Jones TW, Jäger N, Kool M, et al. (July 2012). "Dissecting the genomic complexity underlying medulloblastoma". Nature 488 (7409). doi:10.1038/nature11284.
[edit] Further reading
- Jiang JX, Deprez RH, Zwarthoff EC, Riegman PH (1996). "Characterization of four novel CAG repeat-containing cDNAs.". Genomics 30 (1): 91–3. doi:10.1006/geno.1995.0015. PMID 8595911.
- Imbert G, Saudou F, Yvert G, et al. (1996). "Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.". Nat. Genet. 14 (3): 285–91. doi:10.1038/ng1196-285. PMID 8896557.
- Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Goo YH, Sohn YC, Kim DH, et al. (2003). "Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.". Mol. Cell. Biol. 23 (1): 140–9. doi:10.1128/MCB.23.1.140-149.2003. PMC 140670. PMID 12482968.
- Hughes CM, Rozenblatt-Rosen O, Milne TA, et al. (2004). "Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.". Mol. Cell 13 (4): 587–97. doi:10.1016/S1097-2765(04)00081-4. PMID 14992727.
- Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway.". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins.". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Mo R, Rao SM, Zhu YJ (2006). "Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.". J. Biol. Chem. 281 (23): 15714–20. doi:10.1074/jbc.M513245200. PMID 16603732.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- Issaeva I, Zonis Y, Rozovskaia T, et al. (2007). "Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.". Mol. Cell. Biol. 27 (5): 1889–903. doi:10.1128/MCB.01506-06. PMC 1820476. PMID 17178841.
[edit] External links
- GeneReviews/NCBI/NIH/UW entry on Kabuki syndrome, Kabuki Make-Up Syndrome, Niikawa-Kuroki Syndrome
- MLL2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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