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

Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice.
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DOI:
10.1007/s00335-017-9718-3
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发表时间:
2017-12
期刊:
Mammalian genome : official journal of the International Mammalian Genome Society
影响因子:
--
通讯作者:
Hurd T
Hurd T
中科院分区:
其他
文献类型:
--
作者:
Vermeren M;Lyraki R;Wani S;Airik R;Albagha O;Mort R;Hildebrandt F;Hurd T

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破骨细胞刺激因子1(OSTF 1)是一种含有SH 3结构域的蛋白质,最初被鉴定为参与破骨细胞间接激活的因子。它通过与SMN 1的相互作用与人类脊髓性肌萎缩症有关,并且是人类发育微缺失综合征中缺失的六个基因之一。为了研究OSTF 1的功能,我们建立了Ostf 1基因敲除小鼠模型,其中Ostf 1的第3和第4外显子被LacZ orf替换。进行广泛的X-Gal染色以检查发育和成体表达模式,然后进行表型分析。我们发现该基因在大多数器官的血管系统和成年和胚胎小鼠组织的一些细胞类型中广泛表达。此外,虽然SHIRPA测试显示没有行为缺陷,但我们证明长骨中的小梁质量增加,证实了OSTF 1在骨发育中的作用。本文的在线版本(doi:10.1007/s 00335 -017-9718-3)包含补充材料,可供授权用户使用。
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. The online version of this article (doi:10.1007/s00335-017-9718-3) contains supplementary material, which is available to authorised users.
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