BIOMAT Database Logo BIOMAT Database Logo

The human MJD gene: genomic structure and functional characterization of the promoter region. 2003

Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
Department of Neurology, Neurobiology, University of Bonn, Sigmund-Freud-Str. 25, 53105, Bonn, Germany. i.schmitt@uni-bonn.de

Machado-Joseph disease (MJD) is a progressive neurodegenerative disorder caused by expansion of a CAG motif within the translated region of the human MJD (hMJD) gene which has been mapped to chromosome 14q. In this study, the hMJD gene was identified in two overlapping bacterial artificial chromosome (BAC) clones and contained 11 exons resulting in a 6.14 kb transcript. The 5'-flanking region of the hMJD gene included a TATA-less promoter with GC-rich regions, a CCAAT box and multiple potential SP1 binding sites. Luciferase reporter assays performed in neuronal and non-neuronal human cell lines demonstrated a core promoter within the 200 bp region immediately upstream of the putative transcriptional start site (-89 according to the start codon). DNA-protein interactions defined by electrophoretic mobility shift assays (EMSA) revealed specific binding of nuclear proteins to the putative core promoter region.

UI MeSH Term Description Entries
D007438 Introns Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes. Intervening Sequences,Sequences, Intervening,Intervening Sequence,Intron,Sequence, Intervening
D008156 Luciferases Enzymes that oxidize certain LUMINESCENT AGENTS to emit light (PHYSICAL LUMINESCENCE). The luciferases from different organisms have evolved differently so have different structures and substrates. Luciferase
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009419 Nerve Tissue Proteins Proteins, Nerve Tissue,Tissue Proteins, Nerve
D009687 Nuclear Proteins Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus. Nucleolar Protein,Nucleolar Proteins,Nuclear Protein,Protein, Nuclear,Protein, Nucleolar,Proteins, Nuclear,Proteins, Nucleolar
D011401 Promoter Regions, Genetic DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes. rRNA Promoter,Early Promoters, Genetic,Late Promoters, Genetic,Middle Promoters, Genetic,Promoter Regions,Promoter, Genetic,Promotor Regions,Promotor, Genetic,Pseudopromoter, Genetic,Early Promoter, Genetic,Genetic Late Promoter,Genetic Middle Promoters,Genetic Promoter,Genetic Promoter Region,Genetic Promoter Regions,Genetic Promoters,Genetic Promotor,Genetic Promotors,Genetic Pseudopromoter,Genetic Pseudopromoters,Late Promoter, Genetic,Middle Promoter, Genetic,Promoter Region,Promoter Region, Genetic,Promoter, Genetic Early,Promoter, rRNA,Promoters, Genetic,Promoters, Genetic Middle,Promoters, rRNA,Promotor Region,Promotors, Genetic,Pseudopromoters, Genetic,Region, Genetic Promoter,Region, Promoter,Region, Promotor,Regions, Genetic Promoter,Regions, Promoter,Regions, Promotor,rRNA Promoters
D011485 Protein Binding The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. Plasma Protein Binding Capacity,Binding, Protein
D011993 Recombinant Fusion Proteins Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes. Fusion Proteins, Recombinant,Recombinant Chimeric Protein,Recombinant Fusion Protein,Recombinant Hybrid Protein,Chimeric Proteins, Recombinant,Hybrid Proteins, Recombinant,Recombinant Chimeric Proteins,Recombinant Hybrid Proteins,Chimeric Protein, Recombinant,Fusion Protein, Recombinant,Hybrid Protein, Recombinant,Protein, Recombinant Chimeric,Protein, Recombinant Fusion,Protein, Recombinant Hybrid,Proteins, Recombinant Chimeric,Proteins, Recombinant Fusion,Proteins, Recombinant Hybrid
D012097 Repressor Proteins Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release. Repressor Molecules,Transcriptional Silencing Factors,Proteins, Repressor,Silencing Factors, Transcriptional
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA

Related Publications

Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
Genomic structure and characterization of the promoter region of the human NAK gene.
January 2003, Gene,
Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
Genomic structure and functional characterization of the promoter region of human IkappaB kinase-related kinase IKKi/IKKvarepsilon gene.
June 2005, Gene,
Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
Genomic structure and functional characterization of the human ADAM10 promoter.
September 2005, FASEB journal : official publication of the Federation of American Societies for Experimental Biology,
Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
The genomic structure and promoter region of the human parkin gene.
September 2001, Biochemical and biophysical research communications,
Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
Characterization of the human alpha-synuclein gene: Genomic structure, transcription start site, promoter region and polymorphisms.
October 2001, Journal of Alzheimer's disease : JAD,
Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
Genomic structure and promoter characterization of the human ACTH receptor gene.
January 1997, Biochemical and biophysical research communications,
Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
Functional characterization of the promoter region of human TNFAIP1 gene.
April 2010, Molecular biology reports,
Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
The human ETS1 gene: genomic structure, promoter characterization and alternative splicing.
April 1991, Oncogene,
Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
Characterization of the complete genomic structure of the human versican gene and functional analysis of its promoter.
December 1994, The Journal of biological chemistry,
Ina Schmitt, and Bernd O Evert, and Hassan Khazneh, and Thomas Klockgether, and Ullrich Wuellner
Characterization of the genomic structure, promoter region, and a tetranucleotide repeat polymorphism of the human neurotensin receptor gene.
January 1997, The Journal of biological chemistry,
Copied contents to your clipboard!