Yeast models of human mitochondrial diseases

被引：56

作者：

Barrientos, A ^{[1
]}

机构：

[1] Columbia Univ, Dept Biol Sci, New York, NY 10027 USA

来源：

IUBMB LIFE | 2003年 / 55卷 / 02期

关键词：

mitochondria; yeast; human mitochondrial disease; Saccharomyces cerevisiae; model; assembly;

D O I：

10.1080/1521654031000098122

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The yeast Saccharomyces cerevisiae is an excellent model for gaining insights into the molecular basis of human mitochondrial disorders, particularly those resulting from impaired mitochondrial metabolism. Yeast is a very well characterized system and most of our current knowledge about mitochondrial biogenesis in humans derives from yeast genetics and biochemistry. Systematic yeast genome-wide approaches have allowed for the identification of human disease genes. In addition, the functional characterization of a large number of yeast gene products resident in mitochondria has been instrumental for the later identification and characterization of their human orthologs. Here I will review the molecular and biochemical characterization of several mitochondrial diseases that have been ascribed to mutations in genes that were first found in yeast to be necessary for the assembly of the mitochondrial respiratory chain. The usefulness of yeast as a model system for human mitochondrial disorders is evaluated.

引用

页码：83 / 95

页数：13

共 112 条

[21] Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter [J].

Camacho, JA ;

Obie, C ;

Biery, B ;

Goodman, BK ;

Hu, CA ;

Almashanu, S ;

Steel, G ;

Casey, R ;

Lambert, M ;

Mitchell, GA ;

Valle, D .

NATURE GENETICS, 1999, 22 (02) :151-158

[22]

CARLSON CG, 2002, J BIOL CHEM, V22, P22

[23] Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease [J].

Casari, G ;

De Fusco, M ;

Ciarmatori, S ;

Zeviani, M ;

Mora, M ;

Fernandez, P ;

De Michele, G ;

Filla, A ;

Cocozza, S ;

Marconi, R ;

Dürr, A ;

Fontaine, B ;

Ballabio, A .

CELL, 1998, 93 (06) :973-983

[24] Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae [J].

Cavadini, P ;

Gellera, C ;

Patel, PI ;

Isaya, G .

HUMAN MOLECULAR GENETICS, 2000, 9 (17) :2523-2530

[25] Comparison of the complete protein sets of worm and yeast: Orthology and divergence [J].

Chervitz, SA ;

Aravind, L ;

Sherlock, G ;

Ball, CA ;

Koonin, EV ;

Dwight, SS ;

Harris, MA ;

Dolinski, K ;

Mohr, S ;

Smith, T ;

Weng, S ;

Cherry, JM ;

Botstein, D .

SCIENCE, 1998, 282 (5396) :2022-2028

[26] Assembly-controlled regulation of chloroplast gene translation [J].

Choquet, Y ;

Wostrikoff, K ;

Rimbault, B ;

Zito, F ;

Girard-Bascou, J ;

Drapier, D ;

Wollman, FA .

BIOCHEMICAL SOCIETY TRANSACTIONS, 2001, 29 :421-426

[27] SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency [J].

Coenen, MJH ;

van den Heuvel, LP ;

Nijtmans, LGJ ;

Morava, E ;

Marquardt, I ;

Girschick, HJ ;

Trijbels, FJM ;

Grivell, LA ;

Smeitink, JAM .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1999, 265 (02) :339-344

[28] Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc1 complex [J].

Cruciat, CM ;

Hell, K ;

Fölsch, H ;

Neupert, W ;

Stuart, RA .

EMBO JOURNAL, 1999, 18 (19) :5226-5233

[29]

De Coo IFM, 1999, ANN NEUROL, V45, P130, DOI 10.1002/1531-8249(199901)45:1<130::AID-ART21>3.0.CO

[30]

2-Z

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