Elsevier

Genomics

Volume 42, Issue 1, 15 May 1997, Pages 96-114
Genomics

Regular Article
Construction of a 1.2-Mb Contig Surrounding, and Molecular Analysis of, the Human CREB-Binding Protein (CBP/CREBBP) Gene on Chromosome 16p13.3

https://doi.org/10.1006/geno.1997.4699Get rights and content

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 fluorescencein situhybridization 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.

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    The work presented in this report supports and extends the research presented by Soodet al.,pp. 83–95 of this issue. These two manuscripts combined describe more than 2 contiguous Mb of chromosome 16p13.3.

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    The first two authors contributed equally to this work.

    3

    To whom correspondence should be addressed at Department of Human Genetics, Sylvius Laboratories, Leiden University, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands. Telephone: 31-71-5276203. Fax: 31-71-5276075. E-mail: [email protected]. leidenuniv.nl.

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