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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
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Truncation and fusion of <i>HMGA2</i> in lipomas with rearrangements of 5q32→q33 and 12q14→q15

Authors: M. Nilsson; F. Mertens; M. Höglund; N. Mandahl; I. Panagopoulos;

Truncation and fusion of <i>HMGA2</i> in lipomas with rearrangements of 5q32→q33 and 12q14→q15

Abstract

Chromosome segment 12q13→q15 recombines with many different chromosome bands in lipomas and at least ten recurrent translocations have been identified. The <i>HMGA2</i> gene is often rearranged, but little is known about the molecular consequences at other breakpoints. Fusion genes between <i>HMGA2</i> (12q14→q15) and <i>LPP</i> (3q27→q28), <i>LHFP</i> (13q12) and <i>CMKOR1</i> (2q37) have been reported. In the present study, eight lipomas with rearrangements involving chromosome bands 12q14→q15 and 5q32→q33 were analyzed. In chromosome 5, five of the cases had a breakpoint in the 5′ part of <i>EBF</i> in 5q33, while three cases had breakpoints located about 200 kb 3′ of <i>EBF</i>. In chromosome 12, the breakpoints clustered to the region of <i>HMGA2</i>. Four cases had breaks within the gene and four had breaks 5′ to <i>HMGA2</i> where the gene <i>BC058822</i> is located. Two versions of an <i>HMGA2/EBF</i> fusion transcript were detected in one case; one transcript was in frame and the other out of frame. Identical <i>EBF/BC058822</i> fusion transcripts, seen in two cases, one of which also had the <i>HMGA2/EBF</i> transcript, were out of frame and resulted in truncation of <i>EBF</i>. Since <i>EBF</i> and <i>HMGA2</i> have different orientations, the findings must be explained by complex aberrations including multiple breaks. The combined data indicate that the pathogenetically significant event is fusion, truncation or transcriptional activation of <i>HMGA2,</i> but it can not be excluded that <i>EBF</i>, which has been implicated in adipogenesis, contributes to the tumor development.

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
30
Average
Top 10%
Top 10%
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