title: Novel gene fusion of COX6C at 8q22-23 to HMGIC at 12q15 in a uterine leiomyoma.
abstract: Cytogenetic analyses have shown that aberrations involving 12q13-15 are frequent chromosomal changes in a variety of human benign mesenchymal tumors, e.g., pleomorphic adenomas of the parotid gland, pulmonary chondroid hamartomas, lipomas, and uterine leiomyomas. Recently, the high-mobility group protein gene HMGIC was identified as the target gene affected by the 12q13-15 aberrations. Using 3' rapid amplification of cDNA ends experiments, we isolated novel ectopic sequences fused to HMGIC in a uterine leiomyoma. Cloning of the fusion cDNA identified the human cytochrome c oxidase subunit VIc (COX6C) gene on 8q22-23 as the fusion partner of HMGIC. Nucleotide sequences of the fusion transcript revealed that the first 3 exons of the HMGIC gene, encoding the 3 DNA binding domains, was fused to the exon 2 of the COX6C gene. The identification of a gene rearrangement suggests a role for HMGIC in tumorigenesis of uterine leiomyoma and suggests a possible involvement of HMGIC in mesenchymal differentiation. Genes Chromosomes Cancer 27:303-307, 2000.
authors.affiliation: Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, Kawasaki, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kurose
authors.forename: N
authors.initials: N
authors.lastname: Mine
authors.forename: D
authors.initials: D
authors.lastname: Doi
authors.forename: Y
authors.initials: Y
authors.lastname: Ota
authors.forename: K
authors.initials: K
authors.lastname: Yoneyama
authors.forename: H
authors.initials: H
authors.lastname: Konishi
authors.forename: T
authors.initials: T
authors.lastname: Araki
authors.forename: M
authors.initials: M
authors.lastname: Emi
mesh_terms: D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics*; D005260:Female; D025743:HMGA2 Protein; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D007889:Leiomyoma / Q000201:enzymology / Q000235:genetics*; D014178:Translocation, Genetic; D014594:Uterine Neoplasms / Q000201:enzymology / Q000235:genetics*
chemical_list: C404795:COX6c protein, human; D025743:HMGA2 Protein; D006609:High Mobility Group Proteins; D003576:Electron Transport Complex IV