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Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

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Antonicka, H, Østergaard, E, Sasarman, F, Weraarpachai, W, Wibrand, F, Pedersen, AMB, Rodenburg, RJ, van der Knaap, MS, Smeitink, JAM, Chrzanowska-Lightowlers, ZM & Shoubridge, EA 2010, 'Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect' American Journal of Human Genetics, bind 87, nr. 1, s. 115-22. https://doi.org/10.1016/j.ajhg.2010.06.004

APA

CBE

Antonicka H, Østergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AMB, Rodenburg RJ, van der Knaap MS, Smeitink JAM, Chrzanowska-Lightowlers ZM, Shoubridge EA. 2010. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. American Journal of Human Genetics. 87(1):115-22. https://doi.org/10.1016/j.ajhg.2010.06.004

MLA

Vancouver

Author

Antonicka, Hana ; Østergaard, Elsebet ; Sasarman, Florin ; Weraarpachai, Woranontee ; Wibrand, Flemming ; Pedersen, Anne Marie B ; Rodenburg, Richard J ; van der Knaap, Marjo S ; Smeitink, Jan A M ; Chrzanowska-Lightowlers, Zofia M ; Shoubridge, Eric A. / Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. I: American Journal of Human Genetics. 2010 ; Bind 87, Nr. 1. s. 115-22.

Bibtex

@article{078b5e6a50094f1b91a26371dd7f85f6,
title = "Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect",
abstract = "We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in two unrelated pedigrees who developed Leigh syndrome, optic atrophy, and ophthalmoplegia. Analysis of the assembly of the oxidative phosphorylation complexes showed severe decreases of complexes I, IV, and V and a smaller decrease in complex III. The steady-state levels of mitochondrial mRNAs, tRNAs, and rRNAs were not reduced, nor were those of the mitochondrial translation elongation factors or the protein components of the mitochondrial ribosome. Using homozygosity mapping, we identified a 1 bp deletion in C12orf65 in one patient, and DNA sequence analysis showed a different 1 bp deletion in the second patient. Both mutations predict the same premature stop codon. C12orf65 belongs to a family of four mitochondrial class I peptide release factors, which also includes mtRF1a, mtRF1, and Ict1, all characterized by the presence of a GGQ motif at the active site. However, C12orf65 does not exhibit peptidyl-tRNA hydrolase activity in an in vitro assay with bacterial ribosomes. We suggest that it might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation.",
author = "Hana Antonicka and Elsebet {\O}stergaard and Florin Sasarman and Woranontee Weraarpachai and Flemming Wibrand and Pedersen, {Anne Marie B} and Rodenburg, {Richard J} and {van der Knaap}, {Marjo S} and Smeitink, {Jan A M} and Chrzanowska-Lightowlers, {Zofia M} and Shoubridge, {Eric A}",
note = "Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.",
year = "2010",
month = "7",
day = "9",
doi = "10.1016/j.ajhg.2010.06.004",
language = "English",
volume = "87",
pages = "115--22",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",

}

RIS

TY - JOUR

T1 - Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

AU - Antonicka, Hana

AU - Østergaard, Elsebet

AU - Sasarman, Florin

AU - Weraarpachai, Woranontee

AU - Wibrand, Flemming

AU - Pedersen, Anne Marie B

AU - Rodenburg, Richard J

AU - van der Knaap, Marjo S

AU - Smeitink, Jan A M

AU - Chrzanowska-Lightowlers, Zofia M

AU - Shoubridge, Eric A

N1 - Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

PY - 2010/7/9

Y1 - 2010/7/9

N2 - We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in two unrelated pedigrees who developed Leigh syndrome, optic atrophy, and ophthalmoplegia. Analysis of the assembly of the oxidative phosphorylation complexes showed severe decreases of complexes I, IV, and V and a smaller decrease in complex III. The steady-state levels of mitochondrial mRNAs, tRNAs, and rRNAs were not reduced, nor were those of the mitochondrial translation elongation factors or the protein components of the mitochondrial ribosome. Using homozygosity mapping, we identified a 1 bp deletion in C12orf65 in one patient, and DNA sequence analysis showed a different 1 bp deletion in the second patient. Both mutations predict the same premature stop codon. C12orf65 belongs to a family of four mitochondrial class I peptide release factors, which also includes mtRF1a, mtRF1, and Ict1, all characterized by the presence of a GGQ motif at the active site. However, C12orf65 does not exhibit peptidyl-tRNA hydrolase activity in an in vitro assay with bacterial ribosomes. We suggest that it might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation.

AB - We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in two unrelated pedigrees who developed Leigh syndrome, optic atrophy, and ophthalmoplegia. Analysis of the assembly of the oxidative phosphorylation complexes showed severe decreases of complexes I, IV, and V and a smaller decrease in complex III. The steady-state levels of mitochondrial mRNAs, tRNAs, and rRNAs were not reduced, nor were those of the mitochondrial translation elongation factors or the protein components of the mitochondrial ribosome. Using homozygosity mapping, we identified a 1 bp deletion in C12orf65 in one patient, and DNA sequence analysis showed a different 1 bp deletion in the second patient. Both mutations predict the same premature stop codon. C12orf65 belongs to a family of four mitochondrial class I peptide release factors, which also includes mtRF1a, mtRF1, and Ict1, all characterized by the presence of a GGQ motif at the active site. However, C12orf65 does not exhibit peptidyl-tRNA hydrolase activity in an in vitro assay with bacterial ribosomes. We suggest that it might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation.

U2 - 10.1016/j.ajhg.2010.06.004

DO - 10.1016/j.ajhg.2010.06.004

M3 - Journal article

VL - 87

SP - 115

EP - 122

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -

ID: 32199660