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Fusion of the COL1A...
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Panagopoulos, IoannisLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
(author)
Fusion of the COL1A1 and USP6 genes in a benign bone tumor.
- Article/chapterEnglish2008
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LIBRIS-ID:oai:lup.lub.lu.se:30c7d11f-8af7-4cfb-8163-4c59fb906f2b
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https://lup.lub.lu.se/record/1035427URI
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https://doi.org/10.1016/j.cancergencyto.2007.09.017DOI
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Language:English
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Summary in:English
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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.
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Mertens, FredrikLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-fme
(author)
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Löfvenberg, Richard
(author)
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Mandahl, NilsLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-nma
(author)
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Avdelningen för klinisk genetikInstitutionen för laboratoriemedicin
(creator_code:org_t)
Related titles
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In:Cancer Genetics and Cytogenetics: Elsevier BV180:1, s. 70-730165-4608
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