TY - JOUR
T1 - Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3
AU - Giles, Rachel H.
AU - Petrij, Fred
AU - Dauwerse, Hans G.
AU - Den Hollander, Anneke I.
AU - Lushnikova, Tamara
AU - Van Ommen, Gert Jan B.
AU - Goodman, Richard H.
AU - Deaven, Larry L.
AU - Doggett, Norman A.
AU - Peters, Dorien J.M.
AU - Breuning, Martijn H.
N1 - Funding Information:
The authors gratefully acknowledge B. A. van der Reijden, J. J. Saris, and J. H. Roelfsema for helpful discussions and assistance. We also thank J. C. Chrivia, D. L. Kastner, R. Sood, A. M. Frischauf, L. Blonden, and the YAC Screening Center Leiden for sharing unpublished data and genomic clones. This work was supported by the Dutch Cancer Society (IKW92-24), the Dutch Organization for Scien-ti®c Research (NWO 901-04-124), and grants from the European Community (CT93-0040). We also acknowledge the European Community sponsored concerted action for ``Molecular Cytogenetic Diagnosis of Hematological Malignancies'' (CT941703). N.A.D. and L.L.D. were supported by the U.S. D.O.E. under Contract W-7405-ENG-36.
PY - 1997/5/15
Y1 - 1997/5/15
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0031570335&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031570335&partnerID=8YFLogxK
U2 - 10.1006/geno.1997.4699
DO - 10.1006/geno.1997.4699
M3 - Article
C2 - 9177780
AN - SCOPUS:0031570335
SN - 0888-7543
VL - 42
SP - 96
EP - 114
JO - Genomics
JF - Genomics
IS - 1
ER -