PAX3 gene structure, alternative splicing and evolution

Autor: Melisa C. Barber, Thomas B. Friedman, Timothy E. Cloutier, Thomas D. Barber
Rok vydání: 1999
Předmět:
Untranslated region
Databases
Factual
Transcription
Genetic
PAX3
Oligonucleotides
Conserved sequence
Mice
Tumor Cells
Cultured
Paired Box Transcription Factors
Protein Isoforms
Cloning
Molecular
Promoter Regions
Genetic
Conserved Sequence
Genetics
Expressed Sequence Tags
Waardenburg syndrome
General Medicine
Chromosomes
Bacterial
Proto-Oncogene Proteins c-met
musculoskeletal system
DNA-Binding Proteins
embryonic structures
Alveolar rhabdomyosarcoma
Protein Binding
Gene isoform
Adult
Transcriptional Activation
Recombinant Fusion Proteins
Molecular Sequence Data
Biology
Quail
Evolution
Molecular
Terminology as Topic
medicine
Animals
Humans
Amino Acid Sequence
Gene
PAX3 Transcription Factor
Binding Sites
Base Sequence
Alternative splicing
DNA
Sequence Analysis
DNA
medicine.disease
Mice
Inbred C57BL
Alternative Splicing
Genes
Transcription Factors
Zdroj: Gene. 237(2)
ISSN: 0378-1119
Popis: PAX3 is a member of the paired box family of transcription factors that function during embryogenesis and cancer epigenesis. Mutations in PAX3 cause Waardenburg syndrome (types 1 and 3), Craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma in humans and the Splotch phenotype in mice. In this study, we describe the genomic structure of PAX3, including novel coding sequences and the complete 3' UTR. Alternative transcripts of PAX3 were identified in various tissues, including human adult skeletal muscle and mouse embryos. One of the novel alternative transcripts is evolutionarily conserved in quail and can transactivate a reporter construct containing the mouse c-met promoter. The sequences and alternative transcripts reported herein extend our understanding of the function and evolution of PAX3 in vertebrates and enable a comprehensive mutation screen for individuals with Waardenburg syndrome.
Databáze: OpenAIRE
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