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

• Published in: Genomics (San Diego, Calif.) Vol. 42; no. 1; pp. 96 - 114
• Main Authors: Giles, Rachel H., Petrij, Fred, Dauwerse, Hans G., Hollander, Anneke I.den, Lushnikova, Tamara, van Ommen, Gert-Jan B., Goodman, Richard H., Deaven, Larry L., Doggett, Norman A., Peters, Dorien J.M., Breuning, Martijn H.
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 15.05.1997; Elsevier
• Subjects: Amino Acid Sequence; Base Sequence; Biological and medical sciences; Chromosome Mapping; Chromosomes, Artificial, Yeast - genetics; Chromosomes, Human, Pair 16 - genetics; Chromosomes, Human, Pair 8; Cloning, Molecular; Cosmids; CREB-Binding Protein; DNA Primers - genetics; DNA, Complementary - genetics; Hematologic and hematopoietic diseases; Humans; In Situ Hybridization, Fluorescence; Leukemia, Myeloid, Acute - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Medical sciences; Molecular Sequence Data; Mutation; Nuclear Proteins - genetics; Polymerase Chain Reaction; Rubinstein-Taybi Syndrome - genetics; Trans-Activators; Transcription Factors - genetics; Translocation, Genetic; Chromosomal aberration; Genetic mapping; Human; Breakpoint; Nervous system diseases; Nucleotide sequence; Rubinstein Taybi dwarfism; Diseases of the osteoarticular system; DNA binding protein; Malignant hemopathy; Congenital disease; Myeloproliferative syndrome; Chromosome E16; Contig; Complementary DNA; Gene; Domain structure; Chronic myelocytic leukemia; Abnormal chromosome; Mutation; Male genital diseases; Transcription factor CREB; Physical map; Chromosome translocation
• ISSN: 0888-7543; 1089-8646
• 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 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.