Literature DB >> 20206271

In vivo analysis of mtDNA replication defects in yeast.

Enrico Baruffini1, Iliana Ferrero, Françoise Foury.   

Abstract

The yeast Saccharomyces cerevisiae has the capacity to survive large deletions or total loss of mtDNA (petite mutants), and thus in the last few years it has been used as a model system to study defects in mitochondrial DNA (mtDNA) maintenance produced by mutations in genes involved in mtDNA replication. In this paper we describe methods to obtain strains harboring mutations in nuclear genes essential for the integrity of mtDNA, to measure the frequency and the nature of petite mutants, to estimate the point mutation frequency in mtDNA and to determine whether a nuclear mutation is recessive or dominant and, in the latter case, the kind of dominance. Copyright (c) 2010. Published by Elsevier Inc.

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Year:  2010        PMID: 20206271     DOI: 10.1016/j.ymeth.2010.02.023

Source DB:  PubMed          Journal:  Methods        ISSN: 1046-2023            Impact factor:   3.608


  29 in total

Review 1.  Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.

Authors:  Jeffrey D Stumpf; William C Copeland
Journal:  Cell Mol Life Sci       Date:  2010-10-08       Impact factor: 9.261

2.  Daughters of the budding yeast from old mothers have shorter replicative lifespans but not total lifespans. Are DNA damage and rDNA instability the factors that determine longevity?

Authors:  Mateusz Molon; Anita Panek; Eliza Molestak; Marek Skoneczny; Marek Tchorzewski; Maciej Wnuk
Journal:  Cell Cycle       Date:  2018-07-15       Impact factor: 4.534

Review 3.  Genetic instability in budding and fission yeast-sources and mechanisms.

Authors:  Adrianna Skoneczna; Aneta Kaniak; Marek Skoneczny
Journal:  FEMS Microbiol Rev       Date:  2015-06-24       Impact factor: 16.408

4.  Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

Authors:  Alice Hadchouel; Thomas Wieland; Matthias Griese; Enrico Baruffini; Bettina Lorenz-Depiereux; Laurent Enaud; Elisabeth Graf; Jean Christophe Dubus; Sonia Halioui-Louhaichi; Aurore Coulomb; Christophe Delacourt; Gertrud Eckstein; Ralf Zarbock; Thomas Schwarzmayr; François Cartault; Thomas Meitinger; Tiziana Lodi; Jacques de Blic; Tim M Strom
Journal:  Am J Hum Genet       Date:  2015-04-23       Impact factor: 11.025

5.  Ribonucleotides incorporated by the yeast mitochondrial DNA polymerase are not repaired.

Authors:  Paulina H Wanrooij; Martin K M Engqvist; Josefin M E Forslund; Clara Navarrete; Anna Karin Nilsson; Juhan Sedman; Sjoerd Wanrooij; Anders R Clausen; Andrei Chabes
Journal:  Proc Natl Acad Sci U S A       Date:  2017-11-06       Impact factor: 11.205

6.  A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.

Authors:  Hui-Lin Chin; Denise Li-Meng Goh; Furene Sijia Wang; Stacey Kiat Hong Tay; Chew Kiat Heng; Claudia Donnini; Enrico Baruffini; Ophry Pines
Journal:  J Mol Med (Berl)       Date:  2019-09-16       Impact factor: 4.599

Review 7.  The power of yeast to model diseases of the powerhouse of the cell.

Authors:  Matthew G Baile; Steven M Claypool
Journal:  Front Biosci (Landmark Ed)       Date:  2013-01-01

8.  A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations.

Authors:  Giulia di Punzio; Maria Antonietta Di Noia; Agnès Delahodde; Carole Sellem; Claudia Donnini; Luigi Palmieri; Tiziana Lodi; Cristina Dallabona
Journal:  Int J Mol Sci       Date:  2021-04-24       Impact factor: 5.923

9.  Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.

Authors:  Gerarda Cappuccio; Camilla Ceccatelli Berti; Enrico Baruffini; Jennifer Sullivan; Vandana Shashi; Tamison Jewett; Tara Stamper; Silvia Maitz; Francesco Canonico; Anya Revah-Politi; Gabriel S Kupchik; Kwame Anyane-Yeboa; Vimla Aggarwal; Andreas Benneche; Eirik Bratland; Siren Berland; Felice D'Arco; Cesar A Alves; Adeline Vanderver; Daniela Longo; Enrico Bertini; Annalaura Torella; Vincenzo Nigro; Alessandra D'Amico; Marjo S van der Knaap; Paola Goffrini; Nicola Brunetti-Pierri
Journal:  Hum Mutat       Date:  2021-05-11       Impact factor: 4.700

10.  ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Authors:  Tobias B Haack; Robert Kopajtich; Peter Freisinger; Thomas Wieland; Joanna Rorbach; Thomas J Nicholls; Enrico Baruffini; Anett Walther; Katharina Danhauser; Franz A Zimmermann; Ralf A Husain; Jessica Schum; Helen Mundy; Ileana Ferrero; Tim M Strom; Thomas Meitinger; Robert W Taylor; Michal Minczuk; Johannes A Mayr; Holger Prokisch
Journal:  Am J Hum Genet       Date:  2013-07-11       Impact factor: 11.025

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