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 Goodman, Larry L. Deaven, Norman A. Doggett, Dorien J M Peters, Martijn H. Breuning

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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

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Cosmids
Rubinstein-Taybi Syndrome
Chromosomes
Genes
Acute Myeloid Leukemia
Organism Cloning
CREB-Binding Protein
Multiprotein Complexes
Southern Blotting
Fluorescence In Situ Hybridization
Complementary DNA
human CREBBP protein
Mutation

ASJC Scopus subject areas

  • Genetics

Cite this

Giles, R. H., Petrij, F., Dauwerse, H. G., Den Hollander, A. I., Lushnikova, T., Van Ommen, G. J. B., ... 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

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

In: Genomics, Vol. 42, No. 1, 15.05.1997, p. 96-114.

Research output: Contribution to journalArticle

Giles, RH, Petrij, F, Dauwerse, HG, Den Hollander, AI, Lushnikova, T, Van Ommen, GJB, Goodman, R, Deaven, LL, Doggett, NA, Peters, DJM & Breuning, MH 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, vol. 42, no. 1, pp. 96-114. https://doi.org/10.1006/geno.1997.4699
Giles, Rachel H. ; Petrij, Fred ; Dauwerse, Hans G. ; Den Hollander, Anneke I. ; Lushnikova, Tamara ; Van Ommen, Gert Jan B ; Goodman, Richard ; Deaven, Larry L. ; Doggett, Norman A. ; Peters, Dorien J M ; Breuning, Martijn H. / Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3. In: Genomics. 1997 ; Vol. 42, No. 1. pp. 96-114.
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