Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice
Eblimit, A (Eblimit, Aiden); Agrawal, SA (Agrawal, Smriti Akshay); Thomas, K (Thomas, Kandace); Anastassov, IA (Anastassov, Ivan Assenov); Abulikemu, T (Abulikemu, Tajiguli); Mardon, G (Mardon, Graeme); Chen, R (Chen, Rui)
2018
发表期刊EXPERIMENTAL EYE RESEARCH
卷号171期号:6页码:120-130
摘要

The mammalian retina consists of multiple cell layers including photoreceptor cells, which are light sensing neurons that play essential functions in the visual process. Previously, we identified mutations in SPATA7, encoding spermatogenesis associated protein 7, in families with Leber Congenital Amaurosis (LCA) and juvenile Retinitis Pigmentosa (RP), and showed that Spata7 null mice recapitulate the human disease phenotype of retinal degeneration. SPATA7 is expressed in the connecting cilium of photoreceptor (PR) cells in the mouse retina, as well as in retinal pigment epithelium (RPE) cells, but the functional role of Spata7 in the RPE remains unknown. To investigate whether Spata7 is required in PRs, the RPE, or both, we conditionally knocked out Spata7 in photoreceptors and RPE cells using Crx-Cre and Best1-Cre transgenic mouse lines, respectively. In Spata7 photoreceptor-specific conditional (cKO) mice, both rod and cone photoreceptor dysfunction and degeneration is observed, characterized by progressive thinning of the outer nuclear layer and reduced response to light; however, RPE-specific deletion of Spata7 does not impair retinal function or cell survival. Furthermore, our findings show that both Rhodopsin and RPGRIP1 are mislocalized in the Spata7(Flox/-); Crx-Cre cKO mice, suggesting that loss of Spata7 in photoreceptors alone can result in altered trafficking of these proteins in the connecting cilium. Together, our findings suggest that loss of Spata7 in photoreceptors alone is sufficient to cause photoreceptor degeneration, but its function in the RPE is not required for photoreceptor survival; therefore, loss of Spata7 in photoreceptors alters both rod and cone function and survival, consistent with the clinical phenotypes observed in LCA and RP patients with mutations in SPATA7.

关键词Retinitis Pigmentosa Leber Congenital Amaurosis Spata7 Photoreceptors Retinal Degeneration Conditional Knockout Rpe Retinal Function
DOI10.1016/j.exer.2017.10.015
收录类别SCI
WOS记录号WOS:000423011300015
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被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.xjipc.cas.cn/handle/365002/5216
专题省部共建新疆特有药用资源利用重点实验室
作者单位1.Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
2.Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
3.Baylor Coll Med, Dept Biochem & Mol Biol, Houston, TX 77030 USA
4.Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA
5.Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA
6.Chinese Acad Sci, Xinjiang Tech Inst Phys & Chem, Key Lab Plant Resources & Chem Arid Zone, Urumqi 830011, Xinjiang, Peoples R China
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Eblimit, A ,Agrawal, SA ,Thomas, K ,et al. Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice[J]. EXPERIMENTAL EYE RESEARCH,2018,171(6):120-130.
APA Eblimit, A .,Agrawal, SA .,Thomas, K .,Anastassov, IA .,Abulikemu, T .,...&Chen, R .(2018).Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.EXPERIMENTAL EYE RESEARCH,171(6),120-130.
MLA Eblimit, A ,et al."Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice".EXPERIMENTAL EYE RESEARCH 171.6(2018):120-130.
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