AI Article Synopsis
- Retinitis pigmentosa 2 (RP2) is a gene linked to a type of eye problem that can cause vision loss.
- Scientists found that RP2 interacts with another protein called OSTF1, which helps control certain cells in the body.
- A mutation in the RP2 gene can prevent this important interaction, which affects how cells move and function.
Article Abstract
Retinitis pigmentosa 2 () is the causative gene for a form of X-linked retinal degeneration. RP2 was previously shown to have GTPase-activating protein (GAP) activity towards the small GTPase ARL3 via its N-terminus, but the function of the C-terminus remains elusive. Here, we report a novel interaction between RP2 and osteoclast-stimulating factor 1 (OSTF1), an intracellular protein that indirectly enhances osteoclast formation and activity and is a negative regulator of cell motility. Moreover, this interaction is abolished by a human pathogenic mutation in RP2. We utilized a structure-based approach to pinpoint the binding interface to a strictly conserved cluster of residues on the surface of RP2 that spans both the C- and N-terminal domains of the protein, and which is structurally distinct from the ARL3-binding site. In addition, we show that RP2 is a positive regulator of cell motility , recruiting OSTF1 to the cell membrane and preventing its interaction with the migration regulator Myo1E.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868953 | PMC |
| http://dx.doi.org/10.1242/jcs.211748 | DOI Listing |
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