Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15.
Rearrangements of chromosome bands 12q13-15 are frequent in various benign mesenchymal and epithelial tumors, and the gene HMGA2 seems to be the most common target within this chromosome region. In the majority of cases, the rearrangements result in a fusion of the first three exons of HMGA2 with different translocation partners. Despite the large number of HMGA2 mutations that have been reported, very little is known about the fusion partners. In this study, we have characterized a recurrent fusion of the first three exons of HMGA2 5' to the G protein-coupled receptor gene (RDC1) in lipomas with rearrangements involving chromosome bands 2q35-37 and 12q13-15, one of several recurrent chromosomal rearrangements in lipomas. The functional impact of the fusion is truncation of HMGA2, because the RDC1 part contributes with a stop codon one amino acid downstream of the breakpoint. The breakpoint within RDC1 was localized in a previously uncharacterized exon of the gene, and our data suggest that RDC1 is subject to alternative splicing.
Department of Occupational and Environmental Medicine, University Hospital, SE-221 85 Lund, Sweden. karin.broberg@ymed.lu.se
Karin
K
Broberg
Miao
M
Zhang
Bodil
B
Strömbeck
Margareth
M
Isaksson
Malin
M
Nilsson
Fredrik
F
Mertens
Nils
N
Mandahl
Ioannis
I
Panagopoulos
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D019677:Artificial Gene Fusion; D001483:Base Sequence; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D002889:Chromosomes, Human, Pair 2; D017931:DNA Primers / Q000737:chemistry; D025743:HMGA2 Protein / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008067:Lipoma / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D054387:Receptors, CXCR; D011956:Receptors, Cell Surface / Q000235:genetics* / Q000378:metabolism; D019707:Receptors, Chemokine; D043562:Receptors, G-Protein-Coupled
C501896:ACKR3 protein, human; D017931:DNA Primers; D025743:HMGA2 Protein; D054387:Receptors, CXCR; D011956:Receptors, Cell Surface; D019707:Receptors, Chemokine; D043562:Receptors, G-Protein-Coupled