| Description | 2004 amino acids; 225 kDa; composed from N-term of: a NEMM domain (N-term region of ENOK, MOZ or MORF) including a H15 (linker H1 and H5 like) nuclear localization domain, 2 PHD (plant homeodomain, also known as LAP (leukemia associated protein)) Zn fingers (C4HC3), a C2HC Zn finger, essential part of the histone acyl transferase domain (HAT MOZ-SAS), an acidic (Glu-Asp) domain, localisation of breakpoints in the inv(8) and in the t(8;22) in 1118, and a Ser-(Pro-Glu)-Met rich domain, localisation of the t(8;16) breakpoint in 1547. |
| Localisation | nucleus |
| Function | lysine acetyltransferase activity (histone acyl transferase); MYST3 (MOZ) and MYST4 (MORF) possess both transcription activation and transcription repression domains; transcriptional regulators; interact with RUNX1 and RUNX2; Moz, the zebrafish ortholog of MYST3, was also found to regulate Hox expression; Moz behaves like a trithorax group factor |
| Homology | with MYST4 (MORF) (monocytic leukemia zinc finger protein-related factor), a transcription regulator with positive and negative domains and activities |
| Entity | t(2;8)(p23;p11) in therapy related myelodysplastic syndrome --> MYST3 / ? |
| Disease | only 1 case to date, a boy aged 6 yrs |
| | |
| Entity | inv(8)(p11q13) in acute myelomonocytic or monocytic leukaemia (M4 or M5 AML) --> MYST3 / NCOA2 |
| Disease | Erythrophagocytosis; very rare: less than 10 cases; young age, and female sex |
| Prognosis | likely to be poor |
| Hybrid/Mutated Gene | 5' MYST3 - 3' NCOA2 |
| Abnormal Protein | The fusion product retains the zinc fingers, the the histone acetyl transferase (HAT) domain of MYST3 and the HAT domains and CREBBP interacting domain of NCOA2 |
| | |
| Entity | t(8;16)(p11;p13) in acute myelomonocytic or monocytic leukaemia (M4 or M5 AML) and therapy related AML (t-AML) --> MYST3 / CREBBP |
| Disease | Erythrophagocytosis; rare: less than 1% of AML; found in children and young adults of both sex |
| Prognosis | poor |
| Hybrid/Mutated Gene | 5¹ MYST3 - 3¹ CREBBP |
| Abnormal Protein | The fusion product retains the zinc fingers, the HAT domain of MYST3 and most of CREBBP, including the CREBBP interacting domain and the HAT domain; the fusion protein may repressRUNX1-dependant gene expression£. |
| | |
| Entity | t(8;22) (p11; q13) in acute myelomonocytic or monocytic leukaemia (M4 or M5 AML) --> MYST3 / EP300 |
| Disease | Erythrophagocytosis; very rare: less than 5 cases. |
| Prognosis | likely to be poor |
| Oncogenesis | EP300 is very similar to CRBBP (see above), the breakpoints on these 2 genes are on homologous regions; the breakpoint on MYST3 is more proximal in the t(8;22). |
| | |
| Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: a new specific subgroup? |
| LaˆØ JL, Zandecki M, Jouet JP, Savary JB, Lambiliotte A, Bauters F, Cosson A, Deminatti M |
| Cancer genetics and cytogenetics. 1987 ; 27 (1) : 101-109. |
| PMID 3472640 |
| |
| The 8p11 anomaly in monoblastic leukaemia. |
| Brizard A, Guilhot F, Huret JL, Benz-Lemoine E, Tanzer J |
| Leukemia research. 1988 ; 12 (8) : 693-697. |
| PMID 3184987 |
| |
| The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. |
| Borrow J, Stanton VP Jr, Andresen JM, Becher R, Behm FG, Chaganti RS, Civin CI, Disteche C, Dubˆ© I, Frischauf AM, Horsman D, Mitelman F, Volinia S, Watmore AE, Housman DE |
| Nature genetics. 1996 ; 14 (1) : 33-41. |
| PMID 8782817 |
| |
| Abnormalities of chromosome band 8p11 in leukemia: two clinical syndromes can be distinguished on the basis of MOZ involvement. |
| Aguiar RC, Chase A, Coulthard S, Macdonald DH, Carapeti M, Reiter A, Sohal J, Lennard A, Goldman JM, Cross NC |
| Blood. 1997 ; 90 (8) : 3130-3135. |
| PMID 9376594 |
| |
| A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia. |
| Carapeti M, Aguiar RC, Goldman JM, Cross NC |
| Blood. 1998 ; 91 (9) : 3127-3133. |
| PMID 9558366 |
| |
| Rearrangement of the MOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11). |
| Imamura T, Kakazu N, Hibi S, Morimoto A, Fukushima Y, Ijuin I, Hada S, Kitabayashi I, Abe T, Imashuku S |
| Genes, chromosomes & cancer. 2003 ; 36 (4) : 413-419. |
| PMID 12619166 |
| |
| moz regulates Hox expression and pharyngeal segmental identity in zebrafish. |
| Miller CT, Maves L, Kimmel CB |
| Development (Cambridge, England). 2004 ; 131 (10) : 2443-2461. |
| PMID 15128673 |
| |
| The diverse superfamily of lysine acetyltransferases and their roles in leukemia and other diseases. |
| Yang XJ |
| Nucleic acids research. 2004 ; 32 (3) : 959-976. |
| PMID 14960713 |
| |
