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Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin
Nan-Hyung Kim1, Chang Hoon Lee2, Ai-Young Lee1
1Department of Dermatology, Dongguk University Ilsan Hospital, 814 Siksa-dong, Ilsandong-gu, Goyang-si 10326, Republic of Korea.
International Journal of Molecular Sciences
|December 23, 2023
Summary
Oral-facial digital syndrome type 1 (OFD1) downregulation in vitiligo patients increases melanocyte apoptosis by impairing cell adhesion to the extracellular matrix (ECM), independent of primary cilia defects.
Area of Science:
- Cell Biology
- Dermatology
- Genetics
Background:
- Primary cilia regulate cell fate, including apoptosis.
- Reduced ciliated cells and OFD1 expression are observed in vitiligo epidermis.
- The role of primary cilia in melanocyte apoptosis is unclear.
Purpose of the Study:
- To investigate the role of OFD1 in melanocyte apoptosis and adhesion.
- To determine if OFD1 affects melanocyte apoptosis independently of ciliogenesis.
- To elucidate the mechanism by which OFD1 influences melanocyte survival.
Main Methods:
- Knockdown of OFD1, IFT88, and RPGRIP1L in melanocytes.
- Assessment of melanocyte apoptosis and cell-extracellular matrix (ECM) interactions.
- Analysis of protein expression and interactions, including paxillin.
Main Results:
- OFD1 knockdown, but not IFT88 or RPGRIP1L, increased melanocyte apoptosis.
- OFD1 knockdown reduced expression of ECM proteins like paxillin.
- OFD1's paxillin-binding domain is separate from its ciliogenesis domain.
- OFD1 knockdown inhibited melanocyte adhesion, which was rescued by paxillin.
Conclusions:
- Downregulation of OFD1 induces melanocyte apoptosis in vitiligo.
- OFD1 regulates melanocyte apoptosis via paxillin-mediated ECM adhesion, independent of ciliogenesis.
- OFD1 is a potential therapeutic target for vitiligo.
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