Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3

Rachel H. Giles, Fred Petrij, Hans G. Dauwerse, Anneke I. Den Hollander, Tamara Lushnikova, Gert Jan B. Van Ommen, Richard H. Goodman, Larry L. Deaven, Norman A. Doggett, Dorien J.M. Peters, Martijn H. Breuning

Research output: Contribution to journalArticle

58 Scopus citations

Abstract

In the interest of cloning and analyzing the genes responsible for two very different diseases, the Rubinstein-Taybi syndrome (RTS) and acute myeloid leukemia (AML) associated with the somatic translocation t(8;16)(p11;p13.3), we constructed a high-resolution restriction map of contiguous cosmids (contig) covering 1.2 Mb of chromosome 16p13.3. By fluorescence in situ hybridization and Southern blot analysis, we assigned all tested RTS and t(8;16) translocation breakpoints to a 100-kb region. We have previously reported exact physical locations of these 16p breakpoints, which all disrupt one gene we mapped to this interval: the CREB-binding protein (CBP or CREBBP) gene. Intriguingly, mutations in the CBP gene are responsible for RTS as well as the t(8;16).associated AML. CBP functions as an integrator in the assembly of various multiprotein regulatory complexes and is thus necessary for transcription in a broad range of transduction pathways. We report here the cloning, physical mapping, characterization, and full cDNA nucleotide sequence of the human CBP gene.

Original languageEnglish (US)
Pages (from-to)96-114
Number of pages19
JournalGenomics
Volume42
Issue number1
DOIs
StatePublished - May 15 1997

ASJC Scopus subject areas

  • Genetics

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    Giles, R. H., Petrij, F., Dauwerse, H. G., Den Hollander, A. I., Lushnikova, T., Van Ommen, G. J. B., Goodman, R. H., Deaven, L. L., Doggett, N. A., Peters, D. J. M., & Breuning, M. H. (1997). Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3. Genomics, 42(1), 96-114. https://doi.org/10.1006/geno.1997.4699