VPS13D 促进过氧化物酶体的生物发生。
VPS13D promotes peroxisome biogenesis.
机构信息
Biochemistry Section, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
Cell, Molecular, Developmental Biology and Biophysics Doctoral Program, Johns Hopkins University, Baltimore, MD.
出版信息
J Cell Biol. 2021 May 3;220(5). doi: 10.1083/jcb.202001188.
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.
VPS13 基因家族包括哺乳动物中的 VPS13A-D。尽管这四个基因都与人类疾病有关，但它们的细胞功能仍知之甚少，特别是 VPS13D。我们在 HeLa 细胞中生成并表征了每个 VPS13 基因的敲除。在单个敲除中，只有 VPS13D-KO 细胞表现出线粒体形态异常。此外，VPS13D 的缺失会导致几种转化细胞系和来自携带 VPS13D 突变的隐性脊髓小脑共济失调患者的成纤维细胞中部分或完全丧失过氧化物酶体。我们的数据表明，VPS13D 调节过氧化物酶体的生物发生。
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