Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice.

Autor: Vermeren M; Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital Campus, Crewe Road, Edinburgh, EH4 2XU, UK.; MRC Centre for Inflammation Research, Queen Medical Research Institute, University of Edinburgh, 47 Little France, Edinburgh, EH16 4TJ, UK., Lyraki R; Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital Campus, Crewe Road, Edinburgh, EH4 2XU, UK., Wani S; Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital Campus, Crewe Road, Edinburgh, EH4 2XU, UK., Airik R; Rangos Research Center, Children's Hospital of Pittsburgh, Pittsburgh, PA, 15224, USA., Albagha O; Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital Campus, Crewe Road, Edinburgh, EH4 2XU, UK., Mort R; Division of Biomedical and Life Sciences, Faculty of Health and Medicine, Lancaster University, Lancaster, LA1 4YG, UK., Hildebrandt F; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Enders 561, 300 Longwood Avenue, Boston, MA, 02115, USA., Hurd T; Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital Campus, Crewe Road, Edinburgh, EH4 2XU, UK. Toby.Hurd@Igmm.ed.ac.uk.; MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK. Toby.Hurd@Igmm.ed.ac.uk.
Jazyk: angličtina
Zdroj: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2017 Dec; Vol. 28 (11-12), pp. 498-514. Date of Electronic Publication: 2017 Sep 21.
DOI: 10.1007/s00335-017-9718-3
Abstrakt: Osteoclast stimulation factor 1 (OSTF1) is an SH3-domain containing protein that was initially identified as a factor involved in the indirect activation of osteoclasts. It has been linked to spinal muscular atrophy in humans through its interaction with SMN1, and is one of six genes deleted in a human developmental microdeletion syndrome. To investigate the function of OSTF1, we generated an Ostf1 knockout mouse model, with exons 3 and 4 of Ostf1 replaced by a LacZ orf. Extensive X-Gal staining was performed to examine the developmental and adult expression pattern, followed by phenotyping. We show widespread expression of the gene in the vasculature of most organs and in a number of cell types in adult and embryonic mouse tissues. Furthermore, whilst SHIRPA testing revealed no behavioural defects, we demonstrate increased trabecular mass in the long bones, confirming a role for OSTF1 in bone development.
Databáze: MEDLINE
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