Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.

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.

journal_name

Genomics

journal_title

Genomics

authors

Giles RH,Petrij F,Dauwerse HG,den Hollander AI,Lushnikova T,van Ommen GJ,Goodman RH,Deaven LL,Doggett NA,Peters DJ,Breuning MH

doi

10.1006/geno.1997.4699

subject

Has Abstract

pub_date

1997-05-15 00:00:00

pages

96-114

issue

1

eissn

0888-7543

issn

1089-8646

pii

S0888754397946991

journal_volume

42

pub_type

杂志文章

相关文献

GENOMICS文献大全
  • Linkage map of nine loci defined by polymorphic DNA markers assigned to rat chromosome 13.

    abstract::A genetic map of nine loci defined by polymorphic DNA markers was created using a single cross of F344/N and LEW/N rats. The markers contained polymorphic simple sequence repeats identified in five genes, renin (Ren), cardiac troponin T (Tnnt3), synaptotagmin (Syt2), Na+,K(+)-ATPase catalytic subunit (Atp1a2), and the...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1993.1466

    authors: Remmers EF,Goldmuntz EA,Zha H,Mathern P,Du Y,Crofford LJ,Wilder RL

    更新日期:1993-11-01 00:00:00

  • ReTRN: a retriever of real transcriptional regulatory network and expression data for evaluating structure learning algorithm.

    abstract::One of the important goals in systems biology is to infer transcription network based on gene expression data. Validation of the reconstructed network often requires benchmark datasets, e.g. gene expression data, which are usually unattainable. Synthetic datasets are therefore often needed to test the structure learni...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2009.08.009

    authors: Li Y,Zhu Y,Bai X,Cai H,Ji W,Guo D

    更新日期:2009-11-01 00:00:00

  • C-T variant in a miRNA target site of BCL2 is associated with increased risk of human papilloma virus related cervical cancer--an in silico approach.

    abstract::MicroRNAs control gene expression at the posttranscriptional level by base-pairing to the 3'-UTR of their target mRNAs, thus leading to mRNA degradation of protein fabrication. We hypothesize, SNPs within miRNAs and their targets could be of significance to an individual's risk of developing cancer. We analyzed in sil...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2011.06.005

    authors: Reshmi G,Surya R,Jissa VT,Babu PS,Preethi NR,Santhi WS,Jayaprakash PG,Pillai MR

    更新日期:2011-09-01 00:00:00

  • Cloning of a novel C-terminal kinesin (KIFC3) that maps to human chromosome 16q13-q21 and thus is a candidate gene for Bardet-Biedl syndrome.

    abstract::Kinesins are a large superfamily of microtubule motors that mediate specific motile processes. In a previous study, we identified 11 kinesin family members in the retina and retinal pigment epithelium (RPE) of the striped bass, Morone saxatilus. We have now identified, cloned, and sequenced the human homologue (KIFC3)...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5431

    authors: Hoang EH,Whitehead JL,Dosé AC,Burnside B

    更新日期:1998-09-01 00:00:00

  • Association of a polymorphism of ABCB1 with obesity in Japanese individuals.

    abstract::The aim of the present study was to identify gene polymorphisms that confer susceptibility to obesity. A total of 5448 unrelated Japanese individuals from two independent populations were examined: subject panel A comprised 4252 individuals who visited participating hospitals; subject panel B comprised 1196 community-...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2008.03.004

    authors: Ichihara S,Yamada Y,Kato K,Hibino T,Yokoi K,Matsuo H,Kojima T,Watanabe S,Metoki N,Yoshida H,Satoh K,Aoyagi Y,Yasunaga A,Park H,Tanaka M,Nozawa Y

    更新日期:2008-06-01 00:00:00

  • Identification of two evolutionarily conserved and functional regulatory elements in intron 2 of the human BRCA1 gene.

    abstract::Cross-species comparative genomics is a powerful strategy for identifying functional regulatory elements within noncoding DNA. In this paper, comparative analysis of human and mouse intronic sequences in the breast cancer susceptibility gene (BRCA1) revealed two evolutionarily conserved noncoding sequences (CNS) in in...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2005.05.006

    authors: Wardrop SL,Brown MA,kConFab Investigators.

    更新日期:2005-09-01 00:00:00

  • Human phenol sulfotransferase STP2 gene: molecular cloning, structural characterization, and chromosomal localization.

    abstract::Sulfonation is an important pathway in the biotransformation of many drugs, xenobiotics, neurotransmitters, and steroid hormones. The thermostable (TS) form of phenol sulfotransferase (PST) preferentially catalyzes the sulfonation of "simple" planar phenols, and levels of activity of TS PST in human tissues are contro...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0216

    authors: Her C,Raftogianis R,Weinshilboum RM

    更新日期:1996-05-01 00:00:00

  • Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse.

    abstract::A recessive mutation in the mouse, situs inversus viscerum (iv), results in randomization of organ position along the left-right body axis: approximately 50% of the progeny of homozygous matings exhibit situs solitus and 50% exhibit situs inversus. Recent studies have established genetic linkage between iv and the imm...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/s0888-7543(05)80163-6

    authors: McGrath J,Horwich AL,Brueckner M

    更新日期:1992-11-01 00:00:00

  • Comparative sequence analysis of the Gdf6 locus reveals a duplicon-mediated chromosomal rearrangement in rodents and rapidly diverging coding and regulatory sequences.

    abstract::Duplicated segments of genomic DNA can catalyze both gene evolution and chromosome evolution. Here we describe a rodent-specific duplication involving the Uqcrb gene, a cis-regulatory element for the Gdf6 gene, and a chromosomal rearrangement. Comparisons of Gdf6 sequences from several placental mammals and platypus r...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2004.07.009

    authors: Mortlock DP,Portnoy ME,Chandler RL,NISC Comparative Sequencing Program.,Green ED

    更新日期:2004-11-01 00:00:00

  • The complete mitochondrial genome of Sarcoptes scabiei var. nyctereutis from the Japanese raccoon dog: Prediction and detection of two transfer RNAs (tRNA-A and tRNA-Y).

    abstract::Sarcoptes scabiei (Acari: Sarcoptidae) causes a common contagious skin disease that affects many mammals. Here, the complete mitochondrial genome of a mite, S. scabiei var. nyctereutis, from Japanese wild raccoon dogs was analyzed. The 13,837bp circular genome contained 13 protein-coding genes, two rRNA genes, and 22 ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2018.09.002

    authors: Ueda T,Tarui H,Kido N,Imaizumi K,Hikosaka K,Abe T,Minegishi D,Tada Y,Nakagawa M,Tanaka S,Omiya T,Morikaku K,Kawahara M,Kikuchi-Ueda T,Akuta T,Ono Y

    更新日期:2019-12-01 00:00:00

  • The protein tyrosine phosphatase epsilon gene maps to mouse chromosome 7 and human chromosome 10q26.

    abstract::We have mapped the mouse protein tyrosine phosphatase epsilon (PTP epsilon, gene symbol Ptpre) gene to the distal region of chromosome 7 by linkage analysis using two sets of multilocus genetic crosses. The human PTP epsilon gene (gene symbol PTPRE) was mapped to chromosome 10q26 by fluorescence in situ hybridization....

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0061

    authors: Elson A,Kozak CA,Morton CC,Weremowicz S,Leder P

    更新日期:1996-02-01 00:00:00

  • Cloning and mapping of the mouse alpha 7-neuronal nicotinic acetylcholine receptor.

    abstract::We report the isolation of cDNA clones for the mouse alpha 7 neuronal nicotinic acetylcholine receptor subunit (gene symbol Acra7), the only nicotinic receptor subunit known to bind alpha-bungarotoxin in mammalian brain. This gene may have relevance to nicotine sensitivity and to some electrophysiologic findings in sc...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(95)80228-e

    authors: Orr-Urtreger A,Seldin MF,Baldini A,Beaudet AL

    更新日期:1995-03-20 00:00:00

  • Genomic organization of a new candidate tumor suppressor gene, LRP1B.

    abstract::LRP1B is a novel candidate tumor suppressor gene that is inactivated by genetic and transcript alterations in nearly 50% of non-small-cell lung cancer cell lines. The gene-encoded protein is highly homologous to the gigantic lipoprotein receptor-related protein 1 (LRP1) that belongs to the family of low-density lipopr...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2000.6331

    authors: Liu CX,Musco S,Lisitsina NM,Yaklichkin SY,Lisitsyn NA

    更新日期:2000-10-15 00:00:00

  • Integration of multi-objective PSO based feature selection and node centrality for medical datasets.

    abstract::In the past decades, the rapid growth of computer and database technologies has led to the rapid growth of large-scale medical datasets. On the other, medical applications with high dimensional datasets that require high speed and accuracy are rapidly increasing. One of the dimensionality reduction approaches is featu...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.07.027

    authors: Rostami M,Forouzandeh S,Berahmand K,Soltani M

    更新日期:2020-11-01 00:00:00

  • The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid.

    abstract::Previous studies identified the gene encoding the erythrocyte membrane protein 4.2 (Epb4.2) as a candidate for the mouse mutation pallid (pa); Epb4.2 genetically colocalized near pa on mouse Chromosome 2, and a truncated Epb4.2 transcript was present in tissues derived from pallid mice. We report here evidence that Ep...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4764

    authors: Gwynn B,Korsgren C,Cohen CM,Ciciotte SL,Peters LL

    更新日期:1997-06-15 00:00:00

  • Quantitative analysis of wobble splicing indicates that it is not tissue specific.

    abstract::Alternative splicing is an important mechanism mediating the function of genes in multicellular organisms. Recently, we discovered a new splicing-junction wobble mechanism that generates subtle alterations in mRNA by randomly selecting tandem 5' and 3' splicing-junction sites. Here we developed a sensitive approach to...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2006.07.004

    authors: Tsai KW,Lin WC

    更新日期:2006-12-01 00:00:00

  • Chemogenomic profiling of the cellular effects associated with histone H3 acetylation impairment by a quinoline-derived compound.

    abstract::We report the results of a chemogenomic profiling aimed to explore the mode of action of a quinolic analogue of the p300 histone acetyltransferase (HAT) inhibitor anacardic acid, named MC1626. This compound reduced histone H3 acetylation in a dose-dependent manner and the HATs Gcn5 and Rtt109, which specifically targe...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2010.08.005

    authors: Ruotolo R,Tosi F,Vernarecci S,Ballario P,Mai A,Filetici P,Ottonello S

    更新日期:2010-11-01 00:00:00

  • Loss of heterozygosity of chromosome 10p in human gliomas.

    abstract::Molecular loss of heterozygosity studies on human gliomas have shown several regions on chromosome 10 frequently deleted in higher grade tumors, suggesting that chromosome 10 may contain several tumor suppressor genes. We assessed loss of heterozygosity with microsatellite markers in 20 gliomas, consisting of various ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0277

    authors: Kimmelman AC,Ross DA,Liang BC

    更新日期:1996-06-01 00:00:00

  • Comprehensive repertoire and phylogenetic analysis of the G protein-coupled receptors in human and mouse.

    abstract::Understanding differences in the repertoire of orthologous gene pairs is vital for interpretation of pharmacological and physiological experiments if conclusions are conveyed between species. Here we present a comprehensive dataset for G protein-coupled receptors (GPCRs) in both human and mouse with a phylogenetic roa...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2006.04.001

    authors: Bjarnadóttir TK,Gloriam DE,Hellstrand SH,Kristiansson H,Fredriksson R,Schiöth HB

    更新日期:2006-09-01 00:00:00

  • A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy.

    abstract::Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings. Causative mutations have been identified in several sarcomeric genes, including the cardiac myosin binding protein C (MYBPC3) gene. Heritable HCM also exists in a large-animal model, the cat, and w...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2007.04.007

    authors: Meurs KM,Norgard MM,Ederer MM,Hendrix KP,Kittleson MD

    更新日期:2007-08-01 00:00:00

  • Preferential expression of a HPV genotype in invasive cervical carcinomas infected by multiple genotypes.

    abstract::Multiple infections by HPV genotypes are frequently detected in HPV+ cervical lesions but the interaction between each viral genotype during carcinogenesis is poorly understood. Here we carried out a comprehensive study to characterize the multiple HPV expression and integration by RNA-seq analyses of 19 invasive cerv...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.05.009

    authors: Brant AC,Menezes AN,Felix SP,Almeida LM,Moreira MAM

    更新日期:2020-09-01 00:00:00

  • Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel.

    abstract::A somatic cell hybrid panel, consisting of 25 cell lines, has been developed to localize loci subregionally on chromosome 22. Over 300 markers in the form of STSs or hybridization probes have been assigned to one of 24 unique regions or "bins" using this panel. This ordered collection of markers will aid in the assemb...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0358

    authors: Budarf ML,Eckman B,Michaud D,McDonald T,Gavigan S,Buetow KH,Tatsumura Y,Liu Z,Hilliard C,Driscoll D,Goldmuntz E,Meese E,Zwarthoff EC,Williams S,McDermid H,Dumanski JP,Biegel J,Bell CJ,Emanuel BS

    更新日期:1996-07-15 00:00:00

  • Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues.

    abstract::Homeodomain transcription factors control cell fates during the development of all animals. The paired-like subfamily of homeodomain proteins has been particularly implicated in ocular development in different species. In this paper we report the cDNA sequence, genomic structure, localization, and expression data of a...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1999.6093

    authors: Semina EV,Mintz-Hittner HA,Murray JC

    更新日期:2000-01-15 00:00:00

  • Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16.

    abstract::The gene encoding the brain alpha 2-adrenergic receptor (ADRA2C) is located on human chromosome 4. It has been circumstantially associated with a number of human disorders, including Parkinson disease, panic disorders, and Huntington disease (HD). Using somatic cell hybrids, we localized the gene to chromosome 4p16 di...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1994.1061

    authors: Riess O,Thies U,Siedlaczck I,Potisek S,Graham R,Theilmann J,Grimm T,Epplen JT,Hayden MR

    更新日期:1994-01-15 00:00:00

  • Molecular cloning and tissue expression of FAT, the human homologue of the Drosophila fat gene that is located on chromosome 4q34-q35 and encodes a putative adhesion molecule.

    abstract::FAT, a new member of the human cadherin super-family, has been isolated from the T-leukemia cell line J6. The predicted protein closely resembles the Drosophila tumor suppressor fat, which is essential for controlling cell proliferation during Drosophila development. The gene has the potential to encode a large transm...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1995.9884

    authors: Dunne J,Hanby AM,Poulsom R,Jones TA,Sheer D,Chin WG,Da SM,Zhao Q,Beverley PC,Owen MJ

    更新日期:1995-11-20 00:00:00

  • Chromosomal localization of the human gene encoding c-myc promoter-binding protein (MPB1) to chromosome 1p35-pter.

    abstract::We report the mapping of the human gene MPB1 (c-myc promoter binding protein), a recently identified gene regulatory protein. MPB1 binds to the c-myc P2 promoter and exerts a negative regulatory role on c-myc transcription. Since exogenous expression from transfection of the MPB1 gene suppresses the tumorigenic proper...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.4499

    authors: White RA,Adkison LR,Dowler LL,Ray RB

    更新日期:1997-02-01 00:00:00

  • Zinc finger protein gene complexes on mouse chromosomes 8 and 11.

    abstract::Two murine homologs of the Drosophila Krüppel gene, a member of the gap class of developmental control genes that encode a protein with zinc fingers, were mapped to mouse chromosomes 8 and 11 by using somatic cell hybrids and an interspecific backcross. Surprisingly, both genes were closely linked to two previously ma...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(90)90033-q

    authors: Nadeau JH,Birkenmeier CS,Chowdhury K,Crosby JL,Lalley PA

    更新日期:1990-11-01 00:00:00

  • Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL).

    abstract::An exon representing a novel clathrin heavy chain gene (CLTCL) was isolated during gene identification studies and transcription mapping of human chromosome 22. Isolation and sequencing of cDNA clones corresponding to this exon revealed extensive similarity of the predicted amino acid sequence of this gene product to ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0386

    authors: Long KR,Trofatter JA,Ramesh V,McCormick MK,Buckler AJ

    更新日期:1996-08-01 00:00:00

  • CLAN, a novel human CED-4-like gene.

    abstract::Proteins governing cell death form the basis of many normal processes and contribute to the pathogenesis of many diseases when dysregulated. Here we report the cloning of a novel human CED-4-like gene, CLAN, and several of its alternatively spliced isoforms. These caspase-associated recruitment domain (CARD)-containin...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2001.6579

    authors: Damiano JS,Stehlik C,Pio F,Godzik A,Reed JC

    更新日期:2001-07-01 00:00:00

  • Effect of selenocystine on gene expression profiles in human keloid fibroblasts.

    abstract::In this study, selenocystine, a nutritionally available selenoamino acid, was identified for the first time as a novel agent with anti proliferative activity on human keloids. The 20 μM concentration after 48 h treatment used here was the most effective to reduce keloid fibroblast growth. We analyzed the gene expressi...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2011.02.009

    authors: De Felice B,Garbi C,Wilson RR,Santoriello M,Nacca M

    更新日期:2011-05-01 00:00:00