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| Status |
Public on Dec 15, 2009 |
| Title |
Gene expression analysis of bone tumors |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Subungual exostosis is a benign bone- and cartilage-forming tumor known to harbour a pathognomonic t(X;6)(q22;q13-14). Using global gene expression analysis and quantitative real-time PCR we could show that this translocation results in increased expression of the IRS4 gene, presumably due to disruption and/or exchange of regulatory sequences with the translocation partner, the COL12A1 gene. A corresponding deregulation at the protein level could be demonstrated in primary cell cultures using a combination of fluorescence in situ hybridization and immunostaining. As the t(X;6) usually is the sole cytogenetic aberration in subungual exostosis, the deregulated expression of IRS4 is likely to be pathogenetically essential.
Gene expression analysis of bone tumors.
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| Overall design |
Total RNA was extracted from five frozen bone tumor biopsies (two osteochondromas, two cases of BPOP, one subungual exostosis), cDNA was generated, fragmented and end-labelled. The fragmented and biotinylated cDNA was hybridized to the GeneChipR Human Gene 1.0 ST Arrays (Affymetrix).
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| Contributor(s) |
Mertens F |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Dec 07, 2009 |
| Last update date |
Jul 26, 2018 |
| Contact name |
Fredrik Mertens |
| E-mail(s) |
fredrik.mertens@med.lu.se
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| Organization name |
Lund University
|
| Department |
Dept of Clinical Genetics
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| Lab |
Lund University Hospital
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| Street address |
Lund University Hospital
|
| City |
Lund |
| ZIP/Postal code |
22185 |
| Country |
Sweden |
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| Platforms (1) |
| GPL6244 |
[HuGene-1_0-st] Affymetrix Human Gene 1.0 ST Array [transcript (gene) version] |
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| Samples (5)
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| Relations |
| BioProject |
PRJNA120391 |
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