VPS13D promotes peroxisome biogenesis

被引：49

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

[1]

Abadi M, 2016, PROCEEDINGS OF OSDI'16: 12TH USENIX SYMPOSIUM ON OPERATING SYSTEMS DESIGN AND IMPLEMENTATION, P265

[2] Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance [J].

Anding, Allyson L. ;

Wang, Chunxin ;

Chang, Tsun-Kai ;

Sliter, Danielle A. ;

Powers, Christine M. ;

Hofmann, Kay ;

Youle, Richard J. ;

Baehrecke, Eric H. .

CURRENT BIOLOGY, 2018, 28 (02) :287-+

[3]

Aubourg P, 2013, HAND CLINIC, V113, P1593, DOI 10.1016/B978-0-444-59565-2.00028-9

[4] Competitive organelle-specific adaptors recruit Vps13 to membrane contact sites [J].

Bean, Bjorn D. M. ;

Dziurdzik, Samantha K. ;

Kolehmainen, Kathleen L. ;

Fowler, Claire M. S. ;

Kwong, Waldan K. ;

Grad, Leslie I. ;

Davey, Michael ;

Schluter, Cayetana ;

Conibear, Elizabeth .

JOURNAL OF CELL BIOLOGY, 2018, 217 (10) :3593-3607

[5] Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder [J].

Berendse, Kevin ;

Ebberink, Merel S. ;

Ijlst, Lodewijk ;

Bwee Tien Poll-The ;

Wanders, Ronald J. A. ;

Waterham, Hans R. .

ORPHANET JOURNAL OF RARE DISEASES, 2013, 8

[6] Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder [J].

Bjorgo, Kathrine ;

Fjaer, Roar ;

Mork, Hanne Haberg ;

Ferdinandusse, Sacha ;

Falkenberg, Kim D. ;

Waterham, Hans R. ;

Oye, Ane-Marte ;

Sikiric, Alma ;

Amundsen, Silja Svanstrom ;

Kulseth, Mari Ann ;

Selmer, Kaja .

MOLECULAR GENETICS AND METABOLISM, 2017, 121 (04) :325-328

[7] Gene essentiality and synthetic lethality in haploid human cells [J].

Blomen, Vincent A. ;

Majek, Peter ;

Jae, Lucas T. ;

Bigenzahn, Johannes W. ;

Nieuwenhuis, Joppe ;

Staring, Jacqueline ;

Sacco, Roberto ;

van Diemen, Ferdy R. ;

Olk, Nadine ;

Stukalov, Alexey ;

Marceau, Caleb ;

Janssen, Hans ;

Carette, Jan E. ;

Bennett, Keiryn L. ;

Colinge, Jacques ;

Superti-Furga, Giulio ;

Brummelkamp, Thijn R. .

SCIENCE, 2015, 350 (6264) :1092-1096

[8] SOI1 encodes a novel, conserved protein that promotes TGN-endosomal cycling of Kex2p and other membrane proteins by modulating the function of two TGN localization signals [J].

Brickner, JH ;

Fuller, RS .

JOURNAL OF CELL BIOLOGY, 1997, 139 (01) :23-36

[9] ROBUST TESTS FOR EQUALITY OF VARIANCES [J].

BROWN, MB ;

FORSYTHE, AB .

JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION, 1974, 69 (346) :364-367

[10] A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency [J].

Buchert, Rebecca ;

Tawamie, Hasan ;

Smith, Christopher ;

Uebe, Steffen ;

Innes, A. Micheil ;

Al Hallak, Bassam ;

Ekici, Arif B. ;

Sticht, Heinrich ;

Schwarze, Bernd ;

Lamont, Ryan E. ;

Parboosingh, Jillian S. ;

Bernier, Francois P. ;

Abou Jamra, Rami .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (05) :602-610

← 1 2 3 4 5 6 7 →