The t(X;6) in subungual exostosis results in transcriptional deregulation of the gene for insulin receptor substrate 4.
(2011) In International Journal of Cancer 128. p.487-491- Abstract
- 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. The exact role of... (More)
- 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. The exact role of IRS4 is still poorly investigated, but IRS proteins are known to act as mediators of signalling from receptors, such as the insulin and insulin-like growth factor 1 receptors, and thus have an important effect on cell growth and survival. (c) 2010 UICC. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1581591
- author
- Mertens, Fredrik LU ; Möller, Emely LU ; Mandahl, Nils LU ; Picci, Piero ; Perez-Atayde, Antonio R ; Samson, Ignace ; Sciot, Raf and Debiec-Rychter, Maria
- organization
- publishing date
- 2011
- type
- Contribution to journal
- publication status
- published
- subject
- in
- International Journal of Cancer
- volume
- 128
- pages
- 487 - 491
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- wos:000285263100027
- pmid:20340132
- scopus:78649562755
- pmid:20340132
- ISSN
- 0020-7136
- DOI
- 10.1002/ijc.25353
- language
- English
- LU publication?
- yes
- id
- f972dbbc-d68d-49ad-bc7e-f073b3eb1101 (old id 1581591)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/20340132?dopt=Abstract
- date added to LUP
- 2016-04-04 08:14:49
- date last changed
- 2022-02-05 23:38:33
@article{f972dbbc-d68d-49ad-bc7e-f073b3eb1101, abstract = {{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. The exact role of IRS4 is still poorly investigated, but IRS proteins are known to act as mediators of signalling from receptors, such as the insulin and insulin-like growth factor 1 receptors, and thus have an important effect on cell growth and survival. (c) 2010 UICC.}}, author = {{Mertens, Fredrik and Möller, Emely and Mandahl, Nils and Picci, Piero and Perez-Atayde, Antonio R and Samson, Ignace and Sciot, Raf and Debiec-Rychter, Maria}}, issn = {{0020-7136}}, language = {{eng}}, pages = {{487--491}}, publisher = {{John Wiley & Sons Inc.}}, series = {{International Journal of Cancer}}, title = {{The t(X;6) in subungual exostosis results in transcriptional deregulation of the gene for insulin receptor substrate 4.}}, url = {{http://dx.doi.org/10.1002/ijc.25353}}, doi = {{10.1002/ijc.25353}}, volume = {{128}}, year = {{2011}}, }