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

Annelies Dheedene, Steven Deleye, JAN HELLEMANS, Steven Staelens UGent, Stefaan Vandenberghe UGent and Geert Mortier (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
2016-12-19 15:45:47
@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.