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rdf:type |
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lifeskim:mentions |
umls-concept:C0008633,
umls-concept:C0017337,
umls-concept:C0086418,
umls-concept:C0256079,
umls-concept:C0301039,
umls-concept:C0441513,
umls-concept:C1282914,
umls-concept:C1337090,
umls-concept:C1511491,
umls-concept:C1513380,
umls-concept:C1520688,
umls-concept:C1527177
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pubmed:issue |
1
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pubmed:dateCreated |
1997-7-7
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pubmed:databankReference |
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0888-7543
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pubmed:author |
pubmed-author:BreuningM HMH,
pubmed-author:DauwerseH GHG,
pubmed-author:DeavenL LLL,
pubmed-author:DoggettN ANA,
pubmed-author:GilesR HRH,
pubmed-author:GoodmanR HRH,
pubmed-author:LushnikovaTT,
pubmed-author:PetersD JDJ,
pubmed-author:PetrinJJ,
pubmed-author:den HollanderA IAI,
pubmed-author:van OmmenG JGJ
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
96-114
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:9177780-Amino Acid Sequence,
pubmed-meshheading:9177780-Base Sequence,
pubmed-meshheading:9177780-CREB-Binding Protein,
pubmed-meshheading:9177780-Chromosome Mapping,
pubmed-meshheading:9177780-Chromosomes, Artificial, Yeast,
pubmed-meshheading:9177780-Chromosomes, Human, Pair 16,
pubmed-meshheading:9177780-Chromosomes, Human, Pair 8,
pubmed-meshheading:9177780-Cloning, Molecular,
pubmed-meshheading:9177780-Cosmids,
pubmed-meshheading:9177780-DNA, Complementary,
pubmed-meshheading:9177780-DNA Primers,
pubmed-meshheading:9177780-Humans,
pubmed-meshheading:9177780-In Situ Hybridization, Fluorescence,
pubmed-meshheading:9177780-Leukemia, Myeloid, Acute,
pubmed-meshheading:9177780-Molecular Sequence Data,
pubmed-meshheading:9177780-Mutation,
pubmed-meshheading:9177780-Nuclear Proteins,
pubmed-meshheading:9177780-Polymerase Chain Reaction,
pubmed-meshheading:9177780-Rubinstein-Taybi Syndrome,
pubmed-meshheading:9177780-Trans-Activators,
pubmed-meshheading:9177780-Transcription Factors,
pubmed-meshheading:9177780-Translocation, Genetic
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pubmed:year |
1997
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pubmed:articleTitle |
Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.
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pubmed:affiliation |
Department of Human Genetics, Leiden University, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
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