PMID- 9447825 OWN - NLM STAT- MEDLINE DCOM- 19980205 LR - 20190914 IS - 0887-6924 (Print) IS - 0887-6924 (Linking) VI - 11 IP - 12 DP - 1997 Dec TI - Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16). PG - 2087-96 AB - The CREB-binding protein (CBP) is a large nuclear protein that regulates many signal transduction pathways and is involved in chromatin-mediated transcription. The translocation t(8;16)(p11;p13.3) consistently disrupts two genes: the CBP gene on chromosome band 16p13.3 and the MOZ gene on chromosome band 8p11. Although a fusion of these two genes as a result of the translocation is expected, attempts at detecting the fusion transcript by reverse transcriptase polymerase chain reaction (RT-PCR) have proven difficult; to date, only one in-frame CBP/MOZ fusion transcript has been reported. We therefore sought other reliable means of detecting CBP rearrangements. We applied fluorescence in situ hybridization (FISH) and Southern blot analyses to a series of AML patients with a t(8;16) and detected DNA rearrangements of both the CBP and the MOZ loci in all cases tested. All six cases examined for CBP rearrangements have breakpoints within a 13 kb breakpoint cluster region at the 5' end of the CBP gene. Additionally, we used a MOZ cDNA probe to construct a surrounding cosmid contig and detect DNA rearrangements in three t(8;16) cases, all of which display rearrangements within a 6 kb genomic fragment of the MOZ gene. We have thus developed a series of cosmid probes that consistently detect the disruption of the CBP gene in t(8;16) patients. These clones could potentially be used to screen other cancer-associated or congenital translocations involving chromosome band 16p13.3 as well. FAU - Giles, R H AU - Giles RH AD - Department of Human Genetics, Leiden University, The Netherlands. FAU - Dauwerse, J G AU - Dauwerse JG FAU - Higgins, C AU - Higgins C FAU - Petrij, F AU - Petrij F FAU - Wessels, J W AU - Wessels JW FAU - Beverstock, G C AU - Beverstock GC FAU - Dohner, H AU - Dohner H FAU - Jotterand-Bellomo, M AU - Jotterand-Bellomo M FAU - Falkenburg, J H AU - Falkenburg JH FAU - Slater, R M AU - Slater RM FAU - van Ommen, G J AU - van Ommen GJ FAU - Hagemeijer, A AU - Hagemeijer A FAU - van der Reijden, B A AU - van der Reijden BA FAU - Breuning, M H AU - Breuning MH LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Leukemia JT - Leukemia JID - 8704895 RN - 0 (Nuclear Proteins) RN - 0 (Trans-Activators) RN - 0 (Transcription Factors) RN - EC 2.3.1.- (Acetyltransferases) RN - EC 2.3.1.48 (CREB-Binding Protein) RN - EC 2.3.1.48 (CREBBP protein, human) RN - EC 2.3.1.48 (Histone Acetyltransferases) RN - EC 2.3.1.48 (KAT6A protein, human) SB - IM MH - Acetyltransferases/genetics MH - Blotting, Southern MH - CREB-Binding Protein MH - *Chromosomes, Human, Pair 16 MH - *Chromosomes, Human, Pair 8 MH - *Gene Rearrangement MH - Histone Acetyltransferases MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myeloid, Acute/*genetics MH - Nuclear Proteins/*genetics MH - *Trans-Activators MH - Transcription Factors/*genetics MH - *Translocation, Genetic EDAT- 1998/02/03 00:00 MHDA- 1998/02/03 00:01 CRDT- 1998/02/03 00:00 PHST- 1998/02/03 00:00 [pubmed] PHST- 1998/02/03 00:01 [medline] PHST- 1998/02/03 00:00 [entrez] AID - 10.1038/sj.leu.2400882 [doi] PST - ppublish SO - Leukemia. 1997 Dec;11(12):2087-96. doi: 10.1038/sj.leu.2400882.