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. 1997 May 15;42(1):96-114. doi: 10.1006/geno.1997.4699.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • CREB-Binding Protein
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast / genetics
  • Chromosomes, Human, Pair 16 / genetics*
  • Chromosomes, Human, Pair 8
  • Cloning, Molecular
  • Cosmids
  • DNA Primers / genetics
  • DNA, Complementary / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid, Acute / genetics
  • Molecular Sequence Data
  • Mutation
  • Nuclear Proteins / genetics*
  • Polymerase Chain Reaction
  • Rubinstein-Taybi Syndrome / genetics
  • Trans-Activators*
  • Transcription Factors / genetics*
  • Translocation, Genetic


  • DNA Primers
  • DNA, Complementary
  • Nuclear Proteins
  • Trans-Activators
  • Transcription Factors
  • CREB-Binding Protein
  • CREBBP protein, human

Associated data

  • GENBANK/U85962
  • GENBANK/U89354
  • GENBANK/U89355