| Entity | t(8;16)(p11;p13)/M4 ANLL --> MOZ/CBP |
| Disease | acute non lymphocytic leukemia (ANLL) and treatment related ANLL (t-ANLL) |
| Prognosis | poor: remission is obtained in half cases; survival is often less than 1yr |
| Cytogenetics | +8 as an additional anomalies in half cases |
| Hybrid/Mutated Gene | 5' MOZ - 3' CBP |
| Abnormal Protein | N-term finger motifs and acetyl transferase from MOZ fused to most of CBP, with a breakpoint in 5' of the CREB binding domain of CBP |
| | |
| Entity | t(11;16)(q23;p13)/t-ANLL --> MLL/CBP |
| Disease | treatment related ANLL (t-ANLL); should be very close to the t(11;22)(q23;q13) |
| Prognosis | likely to be poor |
| Hybrid/Mutated Gene | 5' MLL - 3'CBP |
| Abnormal Protein | N-term AT hook and DNA methyltransferase from MLL fused to most of CBP; variable brakpoint in CBP: either in 5' of the CREB binding domain (like in the t(8;16)), or just upstream of the bromodomain |
| | |
| Entity | Rubinstein-Taybi syndrome |
| Note | due to CBP haploinsufficiency. |
| Disease | autosomal dominant disorder with mental retardation, facial dysmorphia, broad thumbs/halluces, cardiac anomalies, and an increased risk of medulloblastoma, meningioma, and neuroblastoma |
| | |
| 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 |
| |
| p300 and CBP as transcriptional regulators and targets of oncogenic events. |
| Eckner R |
| Biological chemistry. 1996 ; 377 (11) : 685-688. |
| PMID 8960368 |
| |
| Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3. |
| Giles RH, Petrij F, Dauwerse HG, den Hollander AI, Lushnikova T, van Ommen GJ, Goodman RH, Deaven LL, Doggett NA, Peters DJ, Breuning MH |
| Genomics. 1997 ; 42 (1) : 96-114. |
| PMID 9177780 |
| |
| The multifunctional role of the co-activator CBP in transcriptional regulation. |
| Goldman PS, Tran VK, Goodman RH |
| Recent progress in hormone research. 1997 ; 52 : 103-119. |
| PMID 9238849 |
| |
| MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3). |
| Sobulo OM, Borrow J, Tomek R, Reshmi S, Harden A, Schlegelberger B, Housman D, Doggett NA, Rowley JD, Zeleznik-Le NJ |
| Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (16) : 8732-8737. |
| PMID 9238046 |
| |
| The t(11;16)(q23;p13) translocation in myelodysplastic syndrome fuses the MLL gene to the CBP gene. |
| Taki T, Sako M, Tsuchida M, Hayashi Y |
| Blood. 1997 ; 89 (11) : 3945-3950. |
| PMID 9166831 |
| |
| p300 and CBP: partners for life and death. |
| Giordano A, Avantaggiati ML |
| Journal of cellular physiology. 1999 ; 181 (2) : 218-230. |
| PMID 10497301 |
| |
| Developmentally regulated expression of the transcriptional cofactors/histone acetyltransferases CBP and p300 during mouse embryogenesis. |
| Partanen A, Motoyama J, Hui CC |
| The International journal of developmental biology. 1999 ; 43 (6) : 487-494. |
| PMID 10610021 |
| |
| Function for p300 and not CBP in the apoptotic response to DNA damage. |
| Yuan ZM, Huang Y, Ishiko T, Nakada S, Utsugisawa T, Shioya H, Utsugisawa Y, Shi Y, Weichselbaum R, Kufe D |
| Oncogene. 1999 ; 18 (41) : 5714-5717. |
| PMID 10523850 |
| |
| CBP/p300 histone acetyl-transferase activity is important for the G1/S transition. |
| Ait-Si-Ali S, Polesskaya A, Filleur S, Ferreira R, Duquet A, Robin P, Vervish A, Trouche D, Cabon F, Harel-Bellan A |
| Oncogene. 2000 ; 19 (20) : 2430-2437. |
| PMID 10828885 |
| |
