Novel gene fusion of COX6C at 8q22-23 to HMGIC at 12q15 in a uterine leiomyoma.
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.
Kurose
K
K
Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, Kawasaki, Japan.
Mine
N
N
Doi
D
D
Ota
Y
Y
Yoneyama
K
K
Konishi
H
H
Araki
T
T
Emi
M
M
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*
C404795:COX6c protein, human; D025743:HMGA2 Protein; D006609:High Mobility Group Proteins; D003576:Electron Transport Complex IV