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The t(X;6) in subungual exostosis results in transcriptional deregulation of the gene for insulin receptor substrate 4.

Mertens, Fredrik LU ; Möller, Emely LU ; Mandahl, Nils LU ; Picci, Piero; Perez-Atayde, Antonio R; Samson, Ignace; Sciot, Raf and Debiec-Rychter, Maria (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)
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author
organization
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type
Contribution to journal
publication status
published
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in
International Journal of Cancer
volume
128
pages
487 - 491
publisher
John Wiley & Sons
external identifiers
  • wos:000285263100027
  • pmid:20340132
  • scopus:78649562755
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
2010-04-07 14:34:19
date last changed
2017-08-13 04:35:10
@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},
  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},
  volume       = {128},
  year         = {2011},
}