Open AccessVPS13D promotes peroxisome biogenesis
Author(s) -
Heather A. Baldwin,
Chunxin Wang,
Gil Kanfer,
Hetal V Shah,
Antonio VelayosBaeza,
Marija Dulovic-Mahlow,
Norbert Brüggemann,
Allyson L. Anding,
Eric H. Baehrecke,
Dragan Maric,
William A. Prinz,
Richard J. Youle
Publication year - 2021
Publication title -
the journal of cell biology/the journal of cell biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.414
H-Index - 380
eISSN - 1540-8140
pISSN - 0021-9525
DOI - 10.1083/jcb.202001188
Subject(s) - biology , gene knockout , biogenesis , gene , microbiology and biotechnology , genetics , peroxisome , mutation , phenotype , mitochondrion
The VPS13 gene family consists of VPS13A–D in mammals. Although all four genes have been linked to human diseases, their cellular functions are poorly understood, particularly those of VPS13D. We generated and characterized knockouts of each VPS13 gene in HeLa cells. Among the individual knockouts, only VPS13D-KO cells exhibit abnormal mitochondrial morphology. Additionally, VPS13D loss leads to either partial or complete peroxisome loss in several transformed cell lines and in fibroblasts derived from a VPS13D mutation–carrying patient with recessive spinocerebellar ataxia. Our data show that VPS13D regulates peroxisome biogenesis.