Final published version
Research output: Contribution to Journal/Magazine › Journal article › peer-review
Research output: Contribution to Journal/Magazine › Journal article › peer-review
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TY - JOUR
T1 - Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice
AU - Vermeren, Matthieu
AU - Lyraki, Rodanthi
AU - Wani, Sachin
AU - Airik, Rannar
AU - Albagha, Omar
AU - Mort, Richard
AU - Hildebrandt, Friedhelm
AU - Hurd, Toby
PY - 2017/12
Y1 - 2017/12
N2 - 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.
AB - 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.
U2 - 10.1007/s00335-017-9718-3
DO - 10.1007/s00335-017-9718-3
M3 - Journal article
C2 - 28936620
VL - 28
SP - 498
EP - 514
JO - Mammalian genome : official journal of the International Mammalian Genome Society
JF - Mammalian genome : official journal of the International Mammalian Genome Society
SN - 0938-8990
IS - 11-12
ER -