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Fusion of the COL1A1 and USP6 genes in a benign bone tumor.

Panagopoulos, Ioannis LU ; Mertens, Fredrik LU ; Löfvenberg, Richard and Mandahl, Nils LU (2008) In Cancer Genetics and Cytogenetics 180(1). p.70-73
Abstract
Aneurysmal bone cyst (ABC) is a benign intraskeletal cyst that often expands rapidly and shows a strong tendency to recur. Rearrangement of chromosome band 17p13 is a characteristic genetic feature of ABC, with t(16;17)(q22;p13) the most frequent chromosomal aberration. This translocation generates a CDH11-USP6 fusion gene in which the strong promoter of osteoblast cadherin 11 gene at 16q22 is fused to the entire ubiquitin-specific protease 6 coding sequence at 17p13. As a result, USP6 (alias Tre2) is transcriptionally upregulated. Fusion genes of several variant translocations have been reported in ABC, including a case with t(17;17) and COL1A1-USP6 fusion. In each translocation, the entire USP6 coding sequence is fused downstream to the... (More)
Aneurysmal bone cyst (ABC) is a benign intraskeletal cyst that often expands rapidly and shows a strong tendency to recur. Rearrangement of chromosome band 17p13 is a characteristic genetic feature of ABC, with t(16;17)(q22;p13) the most frequent chromosomal aberration. This translocation generates a CDH11-USP6 fusion gene in which the strong promoter of osteoblast cadherin 11 gene at 16q22 is fused to the entire ubiquitin-specific protease 6 coding sequence at 17p13. As a result, USP6 (alias Tre2) is transcriptionally upregulated. Fusion genes of several variant translocations have been reported in ABC, including a case with t(17;17) and COL1A1-USP6 fusion. In each translocation, the entire USP6 coding sequence is fused downstream to the promoter region of the partner gene. Here we report a second case of a bone tumor carrying a t(17;17) resulting in a COL1A1-USP6 chimeric gene. As in the previous case, exon 1 of COL1A1 was fused to exon 2 of USP6 in the chimeric transcript. A translation process of the hybrid transcript using the starting ATG codon of the COL1A1 gene results in a truncated, 38 amino acid residues variant of the COL1A1 peptide. Although a pathogenic effect of the small COL1A1 peptide cannot be ruled out, overexpression of USP6 through fusion with the COL1A1 promoter is a more reasonable hypothesis. (Less)
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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Cancer Genetics and Cytogenetics
volume
180
issue
1
pages
70 - 73
publisher
Elsevier
external identifiers
  • wos:000251851200014
  • pmid:18068538
  • scopus:36549036209
  • pmid:18068538
ISSN
0165-4608
DOI
10.1016/j.cancergencyto.2007.09.017
language
English
LU publication?
yes
id
30c7d11f-8af7-4cfb-8163-4c59fb906f2b (old id 1035427)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18068538?dopt=Abstract
date added to LUP
2016-04-01 13:48:24
date last changed
2025-10-14 10:56:20
@article{30c7d11f-8af7-4cfb-8163-4c59fb906f2b,
  abstract     = {{Aneurysmal bone cyst (ABC) is a benign intraskeletal cyst that often expands rapidly and shows a strong tendency to recur. Rearrangement of chromosome band 17p13 is a characteristic genetic feature of ABC, with t(16;17)(q22;p13) the most frequent chromosomal aberration. This translocation generates a CDH11-USP6 fusion gene in which the strong promoter of osteoblast cadherin 11 gene at 16q22 is fused to the entire ubiquitin-specific protease 6 coding sequence at 17p13. As a result, USP6 (alias Tre2) is transcriptionally upregulated. Fusion genes of several variant translocations have been reported in ABC, including a case with t(17;17) and COL1A1-USP6 fusion. In each translocation, the entire USP6 coding sequence is fused downstream to the promoter region of the partner gene. Here we report a second case of a bone tumor carrying a t(17;17) resulting in a COL1A1-USP6 chimeric gene. As in the previous case, exon 1 of COL1A1 was fused to exon 2 of USP6 in the chimeric transcript. A translation process of the hybrid transcript using the starting ATG codon of the COL1A1 gene results in a truncated, 38 amino acid residues variant of the COL1A1 peptide. Although a pathogenic effect of the small COL1A1 peptide cannot be ruled out, overexpression of USP6 through fusion with the COL1A1 promoter is a more reasonable hypothesis.}},
  author       = {{Panagopoulos, Ioannis and Mertens, Fredrik and Löfvenberg, Richard and Mandahl, Nils}},
  issn         = {{0165-4608}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{70--73}},
  publisher    = {{Elsevier}},
  series       = {{Cancer Genetics and Cytogenetics}},
  title        = {{Fusion of the COL1A1 and USP6 genes in a benign bone tumor.}},
  url          = {{http://dx.doi.org/10.1016/j.cancergencyto.2007.09.017}},
  doi          = {{10.1016/j.cancergencyto.2007.09.017}},
  volume       = {{180}},
  year         = {{2008}},
}