Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family.

Molecular and Cellular Biology
Megan BestwickDennis R Winge

Abstract

Three missense SURF1 mutations identified in patients with Leigh syndrome (LS) were evaluated in the yeast homolog Shy1 protein. Introduction of two of the Leigh mutations, F(249)T and Y(344)D, in Shy1 failed to significantly attenuate the function of Shy1 in cytochrome c oxidase (CcO) biogenesis as seen with the human mutations. In contrast, a G(137)E substitution in Shy1 results in a nonfunctional protein conferring a CcO deficiency. The G(137)E Shy1 mutant phenocopied shy1Delta cells in impaired Cox1 hemylation and low mitochondrial copper. A genetic screen for allele-specific suppressors of the G(137)E Shy1 mutant revealed Coa2, Cox10, and a novel factor designated Coa4. Coa2 and Cox10 are previously characterized CcO assembly factors. Coa4 is a twin CX(9)C motif mitochondrial protein localized in the intermembrane space and associated with the inner membrane. Cells lacking Coa4 are depressed in CcO activity but show no impairment in Cox1 maturation or formation of the Shy1-stabilized Cox1 assembly intermediate. To glean insights into the functional role of Coa4 in CcO biogenesis, an unbiased suppressor screen of coa4Delta cells was conducted. Respiratory function of coa4Delta cells was restored by the overexpression of CYC...Continue Reading

References

Jan 1, 1996·Journal of Inherited Metabolic Disease·R M Brown, G K Brown
May 30, 1997·The Journal of Biological Chemistry·G MashkevichA Tzagoloff
Dec 5, 1998·American Journal of Human Genetics·V TirantiM Zeviani
Mar 30, 2001·The Journal of Biological Chemistry·E K TuominenP K Kinnunen
Oct 2, 2001·American Journal of Medical Genetics·E A Shoubridge
Jan 10, 2002·The Journal of Biological Chemistry·Esa K J TuominenPaavo K J Kinnunen
Jan 10, 2002·The EMBO Journal·Antoni BarrientosAlexander Tzagoloff
Jan 11, 2003·The Journal of Biological Chemistry·Antoni BarrientosAlexander Tzagoloff
Nov 1, 2003·The EMBO Journal·Xochitl Perez-MartinezThomas D Fox
Nov 11, 2003·The Journal of Biological Chemistry·Siôn L WilliamsJan-Willem Taanman
Aug 13, 2004·The EMBO Journal·Antoni BarrientosAlexander Tzagoloff
Mar 15, 2005·The Journal of Biological Chemistry·Daniel SmithJonathan P Hosler
Aug 9, 2005·The Biochemical Journal·Lukas StiburekJiri Zeman
Aug 11, 2005·The Journal of Biological Chemistry·Yih-Chern HorngDennis R Winge
Jun 9, 2006·American Journal of Physiology. Cell Physiology·Flavia FontanesiAntoni Barrientos
Apr 5, 2007·Nature Protocols·Ilka WittigHermann Schägger
Apr 14, 2007·The Journal of Biological Chemistry·Oleh KhalimonchukDennis R Winge
Sep 21, 2007·The EMBO Journal·David U MickPeter Rehling
Nov 30, 2007·Human Molecular Genetics·Flavia FontanesiAntoni Barrientos
Jun 5, 2008·Biochimica Et Biophysica Acta·Antoni BarrientosFlavia Fontanesi
Jun 11, 2008·Molecular and Cellular Biology·Fabien PierrelDennis R Winge
Jul 16, 2008·Biochimica Et Biophysica Acta·Erika Fernández-VizarraMassimo Zeviani
Dec 17, 2008·The Journal of Biological Chemistry·Uma D VempatiCarlos T Moraes
Mar 20, 2009·American Journal of Physiology. Cell Physiology·Lukas StiburekJiri Zeman
Jul 25, 2009·The Journal of Biological Chemistry·Freya A BundschuhBernd Ludwig
Aug 26, 2009·Journal of Molecular Biology·Sebastian LongenJan Riemer
Sep 29, 2009·Clinical Genetics·D Piekutowska-AbramczukE Pronicka
Oct 21, 2009·Molecular and Cellular Biology·Megan BestwickDennis R Winge
Dec 10, 2009·Molecular and Cellular Biology·Oleh KhalimonchukDennis R Winge

❮ Previous
Next ❯

Citations

Dec 24, 2010·Nature Reviews. Molecular Cell Biology·David U MickPeter Rehling
Dec 4, 2012·Antioxidants & Redox Signaling·Manuela BodeJohannes M Herrmann
Jan 2, 2013·Frontiers in Bioscience (Landmark Edition)·Matthew G Baile, Steven M Claypool
Dec 26, 2012·Molecular Biology of the Cell·Gavin P McStayAlexander Tzagoloff
Mar 23, 2011·The FEBS Journal·Achim HannappelBernd Ludwig
May 5, 2012·Biochimica Et Biophysica Acta·Hyung J KimDennis R Winge
Oct 1, 2011·Biochimica Et Biophysica Acta·Ileana C SotoAntoni Barrientos
Sep 29, 2011·Biochimica Et Biophysica Acta·Achim HannappelBernd Ludwig
Mar 3, 2018·International Journal of Molecular Sciences·Natanael MansillaElina Welchen
Aug 28, 2013·Molecular and Cellular Biology·Bettina BarethPeter Rehling
Oct 6, 2010·Molecular BioSystems·Gabriele Cavallaro
Mar 4, 2020·Cells·Samantha A SwensonOleh Khalimonchuk
Mar 5, 2016·The Journal of Biological Chemistry·Samantha SwensonOleh Khalimonchuk
Sep 6, 2017·Seminars in Cell & Developmental Biology·Alba Timón-GómezAntoni Barrientos
Sep 27, 2020·Biochimica Et Biophysica Acta. Molecular Cell Research·Paul A CobineScot C Leary

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.