| First Author | Zhang Q | Year | 2022 |
| Journal | Biochem Biophys Res Commun | Volume | 589 |
| Pages | 71-77 | PubMed ID | 34894559 |
| Mgi Jnum | J:319634 | Mgi Id | MGI:6861567 |
| Doi | 10.1016/j.bbrc.2021.11.106 | Citation | Zhang Q, et al. (2022) Hyccin/FAM126A deficiency reduces glial enrichment and axonal sheath, which are rescued by overexpression of a plasma membrane-targeting PI4KIIIalpha in Drosophila. Biochem Biophys Res Commun 589:71-77 |
| abstractText | Hyccin/FAM126A mutations are linked to hypomyelination and congenital cataract disease (HCC), but whether and how Hyccin/FAM126A deficiency causes hypomyelination remains undetermined. This study shows Hyccin/FAM126A expression was necessary for the expression of other components of the PI4KIIIalpha complex in Drosophila. Knockdown of Hyccin/FAM126A in glia reduced the enrichment of glial cells, disrupted axonal sheaths and visual ability in the visual system, and these defects could be fully rescued by overexpressing either human FAM126A or FAM126B, and partially rescued by overexpressing a plasma membrane-targeting recombinant mouse PI4KIIIalpha. Additionally, PI4KIIIalpha knockdown in glia phenocopied Hyccin/FAM126A knockdown, and this was partially rescued by overexpressing the recombinant PI4KIIIalpha, but not human FAM126A or FAM126B. This study establishes an animal model of HCC and indicates that Hyccin/FAM126A plays an essential role in glial enrichment and axonal sheath in a cell-autonomous manner in the visual system via controlling the expression and stabilization of the PI4KIIIalpha complex at the plasma membrane. |
