VPS13D promotes peroxisome biogenesis

被引：44

作者：

Baldwin, Heather A. ^{[1
,2
]}

Wang, Chunxin ^{[1
]}

Kanfer, Gil ^{[1
]}

Shah, Hetal, V ^{[1
,3
]}

Velayos-Baeza, Antonio ^{[4
]}

Dulovic-Mahlow, Marija ^{[5
]}

Brueggemann, Norbert ^{[5
,6
]}

Anding, Allyson ^{[7
]}

Baehrecke, Eric H. ^{[7
]}

Maric, Dragan ^{[8
]}

Prinz, William A. ^{[9
]}

Youle, Richard J. ^{[1
]}

机构：

[1] NINDS, Biochem Sect, Surg Neurol Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

[2] Johns Hopkins Univ, Cell Mol Dev Biol & Biophys Doctoral Program, Baltimore, MD USA

[3] Univ Maryland, Program Neurosci & Cognit Sci, College Pk, MD 20742 USA

[4] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

[5] Univ Lubeck, Inst Neurogenet, Lubeck, Germany

[6] Univ Lubeck, Dept Neurol, Lubeck, Germany

[7] Univ Massachusetts, Sch Med, Dept Mol Cell & Canc Biol, Worcester, MA USA

[8] NINDS, Flow Cytometry Core Facil, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

[9] NIDDK, Lab Cell & Mol Biol, NIH, Bethesda, MD 20892 USA

来源：

JOURNAL OF CELL BIOLOGY | 2021年 / 220卷 / 05期

关键词：

SYNDROME-ASSOCIATED PROTEIN; COHEN-SYNDROME; MOLECULAR-BASIS; MITOCHONDRIAL; MUTATIONS; GENE; IDENTIFICATION; YEAST; DISORDERS; DEFECTS;

D O I：

10.1083/jcb.202001188

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页数：26

共 70 条

[31] PATHOLOGY OF HEPATIC PEROXISOMES AND MITOCHONDRIA IN PATIENTS WITH PEROXISOMAL DISORDERS
HUGHES, JL
POULOS, A
ROBERTSON, E
CHOW, CW
SHEFFIELD, LJ
CHRISTODOULOU, J
CARTER, RF
[J]. VIRCHOWS ARCHIV A-PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY, 1990, 416 (03) : 255 - 264
[32] A family of membrane-shaping proteins at ER subdomains regulates pre-peroxisomal vesicle biogenesis
Joshi, Amit S.
Huang, Xiaofang
Choudhary, Vineet
Levine, Tim P.
Hu, Junjie
Prinz, William A.
[J]. JOURNAL OF CELL BIOLOGY, 2016, 215 (04) : 515 - 529
[33] Koh K, 2019, J HUM GENET, V64, P55, DOI 10.1038/s10038-018-0519-7
[34] Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
Kolehmainen, J
Black, GCM
Saarinen, A
Chandler, K
Clayton-Smith, J
Träskelin, AL
Perveen, R
Kivitie-Kallio, S
Norio, R
Warburg, M
Fryns, JP
de la Chapelle, A
Lehesjoki, AE
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (06) : 1359 - 1369
[35] VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites
Kumar, Nikit
Leonzino, Marianna
Hancock-Cerutti, William
Horenkamp, Florian A.
Li, Peiqi
Lees, Joshua A.
Wheeler, Heather
Reinisch, Karin M.
De Camilli, Pietro
[J]. JOURNAL OF CELL BIOLOGY, 2018, 217 (10) : 3625 - 3639
[36] ER-mitochondrial junctions can be bypassed by dominant mutations in the endosomal protein Vps13
Lang, Alexander B.
Peter, Arun T. John
Walter, Peter
Kornmann, Benoit
[J]. JOURNAL OF CELL BIOLOGY, 2015, 210 (06) : 883 - 890
[37] Loss of VPS1 3C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Lesage, Suzanne
Drouet, Valerie
Majounie, Elisa
Deramecourt, Vincent
Jacoupy, Maxime
Nicolas, Aude
Cormier-Dequaire, Florence
Hassoun, Sidi Mohamed
Pujol, Claire
Ciura, Sorana
Erpapazoglou, Zoi
Usenko, Tatiana
Maurage, Claude-Alain
Sahbatou, Mourad
Liebau, Stefan
Ding, Jinhui
Bilgic, Basar
Emre, Murat
Erginel-Unaltuna, Nihan
Guven, Gamze
Tison, Francois
Tranchant, Christine
Vidailhet, Marie
Corvol, Jean-Christophe
Krack, Paul
Leutenegger, Anne-Louise
Nalls, Michael A.
Hernandez, Dena G.
Heutink, Peter
Gibbs, J. Raphael
Hardy, John
Wood, Nicholas W.
Gasser, Thomas
Durr, Alexandra
Deleuze, Jean-Francois
Tazir, Meriem
Destee, Alain
Lohmann, Ebba
Kabashi, Edor
Singleton, Andrew
Corti, Olga
Brice, Alexis
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 98 (03) : 500 - 513
[38] Mast Fred D, 2018, Subcell Biochem, V89, P367, DOI 10.1007/978-981-13-2233-4_16
[39] Yeast Vps13 promotes mitochondrial function and is localized at membrane contact sites
Park, Jae-Sook
Thorsness, Mary K.
Policastro, Robert
McGoldrick, Luke L.
Hollingsworth, Nancy M.
Thorsness, Peter E.
Neiman, Aaron M.
[J]. MOLECULAR BIOLOGY OF THE CELL, 2016, 27 (15) : 2435 - 2449
[40] A Conserved Function in Phosphatidylinositol Metabolism for Mammalian Vps13 Family Proteins
Park, Jae-Sook
Halegoua, Simon
Kishida, Shosei
Neiman, Aaron M.
[J]. PLOS ONE, 2015, 10 (04):

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