title: Characterization of the alternate allelic forms of human PAX7.
abstract: Six different allelic forms of the human neurogenic and myogenic developmental gene, PAX7, have been identified. They are distinguished by the number of tandem tetranucleotide, GAAG, repeats at a polymorphic site within the second intron of the paired box. Within the same intron, a second polymorphic site was found to have variable numbers of a dinucleotide TG repeat. The alleles are identified by a PCR-based method with oligo primers that span the variable regions of the intron. Several of the alleles include a duplicate copy of the entire paired box. Segregation studies demonstrate that the PAX7 alleles are inherited in a Mendelian fashion and that the duplicate copies of the PAX7 paired box region present in some of the alleles are closely linked. This initial study identified differences in the distribution of PAX7 alleles in DNA from patients with the skeletal muscle myopathy, dermatomyositis. Recognition of genetic polymorphism of PAX7 allows new approaches to understanding the role of PAX7 in myogenesis, neurogenesis, and neuromuscular disorders.
authors.affiliation: Department of Pathology, University of Western Australia, Nedlands, Australia. mziman@cyllene.uwa.edu.au
authors.forename: M R
authors.initials: MR
authors.lastname: Ziman
authors.forename: J T
authors.initials: JT
authors.lastname: Pelham
authors.forename: F L
authors.initials: FL
authors.lastname: Mastaglia
authors.forename: P H
authors.initials: PH
authors.lastname: Kay
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA; D018398:Homeodomain Proteins; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051763:PAX7 Transcription Factor; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012689:Sequence Homology, Nucleic Acid
chemical_list: D018398:Homeodomain Proteins; D009124:Muscle Proteins; D009419:Nerve Tissue Proteins; D051763:PAX7 Transcription Factor; C497321:PAX7 protein, human; D004247:DNA