The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects.

ABSTRACT:

Background

Tight control of endosome trafficking is essential for the generation of a normally patterned embryo. Recent studies have found that VPS50 is a key ingredient in EARP which is required for recycling of internalized TfRs to the cell surface and dense-core vesicle maturation. However, the role of VPS50 in embryogenesis and human physiology are poorly understood.

Results

We identified a rare missense heterozygous VPS50 mutation (p. Gly169Val) in NTDs by high-throughput sequencing. In vitro functional analysis demonstrated that the p. Gly169Val was a loss-of-function mutation, delaying transferrin recycling and altering its interaction with VPS53. Using WISH during zebrafish embryogenesis, we demonstrated that vps50 gene was expressed throughout t

SUBMITTER: Shi Z 

PROVIDER: S-EPMC6381738 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature