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The heterozygous Lemd3+/GT mouse is not a murine model for osteopoikilosis in humans

Annelies Dheedene UGent, Steven Deleye UGent, JAN HELLEMANS UGent, Steven Staelens UGent, Stefaan Vandenberghe UGent and Geert Mortier UGent (2009) CALCIFIED TISSUE INTERNATIONAL. 85(6). p.546-551
abstract
Osteopoikilosis and the Buschke-Ollendorff syndrome are skeletal dysplasias with hyperostotic lesions in the long bones. These disorders are caused by heterozygous loss-of-function mutations in the LEMD3 gene. LEMD3 codes for a protein of the inner nuclear membrane that, through interaction with R-SMADs, antagonizes the BMP and TGF beta 1 pathway. It is suggested that the hyperostotic lesions in these disorders are caused by enhanced BMP and TGF beta 1 signaling. The exact mechanism by which mutations in the LEMD3 gene lead to these bone lesions has not yet been unraveled precisely. To further assess this, an Lemd3 gene-trapped mouse was created in a gene-trapping program by Baygenomics. To investigate whether the heterozygous gene-trapped mouse is a good model for osteopoikilosis in humans, we studied these mice radiologically with high-resolution micro-computed tomography (microCT) and histologically. X-ray images were evaluated by a trained radiologist, but no typical osteopoikilosis lesions could be recognized. On all microCT reconstructed images a 3D cortical and trabecular quantitative analysis was performed, investigating different histomorphometric parameters ranging from percent bone volume, bone surface/volume ratio over trabecular thickness, separation, number, and pattern factor to structure model index and fractal dimension. No significant differences were found after a t-test statistical analysis. Also, histological analysis did not reveal lesions typical for osteopoikilosis. We conclude that the heterozygous Lemd3 gene-trapped mouse is not a good model to study osteopoikilosis and the Buschke-Ollendorff syndrome.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
LEMD3, Osteopoikilosis, Buschke-Ollendorff syndrome, MicroCT, Transgenic mouse, INNER NUCLEAR-MEMBRANE, MAN1, PROTEIN, GROWTH, MICE, EMERIN, LAMINA, DOMAIN
journal title
CALCIFIED TISSUE INTERNATIONAL
Calcif. Tissue Int.
volume
85
issue
6
pages
546 - 551
Web of Science type
Article
Web of Science id
000272373400010
JCR category
ENDOCRINOLOGY & METABOLISM
JCR impact factor
2.322 (2009)
JCR rank
65/104 (2009)
JCR quartile
3 (2009)
ISSN
0171-967X
DOI
10.1007/s00223-009-9305-z
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
806491
handle
http://hdl.handle.net/1854/LU-806491
date created
2009-12-10 13:51:26
date last changed
2015-06-17 11:19:15
@article{806491,
  abstract     = {Osteopoikilosis and the Buschke-Ollendorff syndrome are skeletal dysplasias with hyperostotic lesions in the long bones. These disorders are caused by heterozygous loss-of-function mutations in the LEMD3 gene. LEMD3 codes for a protein of the inner nuclear membrane that, through interaction with R-SMADs, antagonizes the BMP and TGF beta 1 pathway. It is suggested that the hyperostotic lesions in these disorders are caused by enhanced BMP and TGF beta 1 signaling. The exact mechanism by which mutations in the LEMD3 gene lead to these bone lesions has not yet been unraveled precisely. To further assess this, an Lemd3 gene-trapped mouse was created in a gene-trapping program by Baygenomics. To investigate whether the heterozygous gene-trapped mouse is a good model for osteopoikilosis in humans, we studied these mice radiologically with high-resolution micro-computed tomography (microCT) and histologically. X-ray images were evaluated by a trained radiologist, but no typical osteopoikilosis lesions could be recognized. On all microCT reconstructed images a 3D cortical and trabecular quantitative analysis was performed, investigating different histomorphometric parameters ranging from percent bone volume, bone surface/volume ratio over trabecular thickness, separation, number, and pattern factor to structure model index and fractal dimension. No significant differences were found after a t-test statistical analysis. Also, histological analysis did not reveal lesions typical for osteopoikilosis. We conclude that the heterozygous Lemd3 gene-trapped mouse is not a good model to study osteopoikilosis and the Buschke-Ollendorff syndrome.},
  author       = {Dheedene, Annelies and Deleye, Steven and HELLEMANS, JAN and Staelens, Steven and Vandenberghe, Stefaan and Mortier, Geert},
  issn         = {0171-967X},
  journal      = {CALCIFIED TISSUE INTERNATIONAL},
  keyword      = {LEMD3,Osteopoikilosis,Buschke-Ollendorff syndrome,MicroCT,Transgenic mouse,INNER NUCLEAR-MEMBRANE,MAN1,PROTEIN,GROWTH,MICE,EMERIN,LAMINA,DOMAIN},
  language     = {eng},
  number       = {6},
  pages        = {546--551},
  title        = {The heterozygous Lemd3+/GT mouse is not a murine model for osteopoikilosis in humans},
  url          = {http://dx.doi.org/10.1007/s00223-009-9305-z},
  volume       = {85},
  year         = {2009},
}

Chicago
Dheedene, Annelies, Steven Deleye, JAN HELLEMANS, Steven Staelens, Stefaan Vandenberghe, and Geert Mortier. 2009. “The Heterozygous Lemd3+/GT Mouse Is Not a Murine Model for Osteopoikilosis in Humans.” Calcified Tissue International 85 (6): 546–551.
APA
Dheedene, A., Deleye, S., HELLEMANS, J., Staelens, S., Vandenberghe, S., & Mortier, G. (2009). The heterozygous Lemd3+/GT mouse is not a murine model for osteopoikilosis in humans. CALCIFIED TISSUE INTERNATIONAL, 85(6), 546–551.
Vancouver
1.
Dheedene A, Deleye S, HELLEMANS J, Staelens S, Vandenberghe S, Mortier G. The heterozygous Lemd3+/GT mouse is not a murine model for osteopoikilosis in humans. CALCIFIED TISSUE INTERNATIONAL. 2009;85(6):546–51.
MLA
Dheedene, Annelies, Steven Deleye, JAN HELLEMANS, et al. “The Heterozygous Lemd3+/GT Mouse Is Not a Murine Model for Osteopoikilosis in Humans.” CALCIFIED TISSUE INTERNATIONAL 85.6 (2009): 546–551. Print.