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Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15.

Broberg Palmgren, Karin LU ; Zhang, Miao; Strömbeck, Bodil LU ; Isaksson, Margareth LU ; Nilsson, Malin A LU ; Mertens, Fredrik LU ; Mandahl, Nils LU and Panagopoulos, Ioannis LU (2002) In International Journal of Oncology 21(2). p.321-326
Abstract
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... (More)
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. (Less)
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organization
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type
Contribution to journal
publication status
published
subject
in
International Journal of Oncology
volume
21
issue
2
pages
321 - 326
publisher
D.A. Spandidos
external identifiers
  • wos:000176913000014
  • pmid:12118328
  • scopus:0036675398
ISSN
1019-6439
language
English
LU publication?
yes
id
3bc3a045-cacd-4ed5-a764-04063a39c77e (old id 109326)
alternative location
http://147.52.72.117/IJO/2002/volume21/number2/321-326.pdf
date added to LUP
2007-07-11 15:57:53
date last changed
2017-09-24 04:26:16
@article{3bc3a045-cacd-4ed5-a764-04063a39c77e,
  abstract     = {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.},
  author       = {Broberg Palmgren, Karin and Zhang, Miao and Strömbeck, Bodil and Isaksson, Margareth and Nilsson, Malin A and Mertens, Fredrik and Mandahl, Nils and Panagopoulos, Ioannis},
  issn         = {1019-6439},
  language     = {eng},
  number       = {2},
  pages        = {321--326},
  publisher    = {D.A. Spandidos},
  series       = {International Journal of Oncology},
  title        = {Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15.},
  volume       = {21},
  year         = {2002},
}