Loss of Tmem30a leads to photoreceptor degeneration
| Autor: | Xiong Zhu, Xianjun Zhu, Xinzheng Guo, Fang Lu, Lin Zhang, Yuqing Liu, Mu Yang, Shanshan Zhang, Yeming Yang, Zhilin Jiang, Zhengfu Tai, Shujin Li, Bo Chen |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
genetic structures Cell lcsh:Medicine Apoptosis Phosphatidylserines Biology Article Retina 03 medical and health sciences chemistry.chemical_compound Night vision medicine Electroretinography Animals Phospholipid Transfer Proteins lcsh:Science Cells Cultured Night Vision Adenosine Triphosphatases Mice Knockout Multidisciplinary medicine.diagnostic_test Color Vision Opsins lcsh:R Membrane Proteins Anatomy Phosphatidylserine Embryonic stem cell Cell biology Protein Transport 030104 developmental biology medicine.anatomical_structure chemistry Retinal Cone Photoreceptor Cells lcsh:Q sense organs Erg Photopic vision |
| Zdroj: | Scientific Reports Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017) |
| ISSN: | 2045-2322 |
| Popis: | Phosphatidylserine (PS) is asymmetrically distributed between the outer and inner leaflets of the plasma membrane in eukaryotic cells. PS asymmetry on the plasma membrane depends on the activities of P4-ATPases, and disruption of PS distribution can lead to various disease conditions. Folding and transporting of P4-ATPases to their cellular destination requires the β subunit TMEM30A proteins. However, the in vivo functions of Tmem30a remain unknown. To this end, we generated retinal-specific Tmem30a-knockout mice to investigate its roles in vivo for the first time. Our data demonstrated that loss of Tmem30a in mouse cone cells leads to mislocalization of cone opsin, loss of photopic electroretinogram (ERG) responses and loss of cone cells. Mechanistically, Tmem30a-mutant mouse embryonic fibroblasts (MEFs) exhibited diminished PS flippase activity and increased exposure of PS on the cell surface. The broad loss of Tmem30a in adult mice led to a reduced scotopic photoresponse, mislocalization of ATP8A2 to the inner segment and cell body, and increased apoptosis in the retina. Our data demonstrated novel essential roles of Tmem30a in the retina. |
| Databáze: | OpenAIRE |
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