Shamima Rahman, Jan-Willem Taanman, J

Slides:

Advertisements

Similar presentations

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Advertisements

Michael R. MacArthur, James R. Mitchell Cell Metabolism

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa Alan J. Mears, Linn Gieser, Denise.

Michael R. MacArthur, James R. Mitchell Cell Metabolism

Merei Huigsloot, Leo G. Nijtmans, Radek Szklarczyk, Marieke J. H

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli,

The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction D.G. Fuster, J. Zhang, X.-S. Xie, O.W. Moe

The use of mitochondrial nutrients to improve the outcome of infertility treatment in older patients Yaakov Bentov, M.D., M.Sc., Navid Esfandiari, D.V.M.,

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Orly Elpeleg, Chaya.

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

Volume 58, Issue 1, Pages (April 2015)

Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency

Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome Pilar Sánchez-Corral, David Pérez-Caballero,

Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia Eri Arikawa-Hirasawa,

Functional Consequences of PRODH Missense Mutations

Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis Sacha Ferdinandusse, Mari S. Ylianttila, Jolein.

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein Valeria Tiranti, Pio D’Adamo, Egill Briem,

Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia Pauline Gaignard, Minal Menezes,

Volume 5, Issue 1, Pages 9-20 (January 2007)

Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix-Lerosey, Anne.

Volume 16, Issue 3, Pages R81-R83 (February 2006)

Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease Richard Alan Lewis, Noah F.

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M.

Merei Huigsloot, Leo G. Nijtmans, Radek Szklarczyk, Marieke J. H

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy Lieve Claes, Jurgen Del-Favero, Berten Ceulemans, Lieven.

An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

John D. Rioux, Valerie A. Stone, Mark J

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte David A.

Splitting p63 The American Journal of Human Genetics

Histone-like TAFs Are Essential for Transcription In Vivo

The Bare Lymphocyte Syndrome: Molecular Clues to the Transcriptional Regulation of Major Histocompatibility Complex Class II Genes Angela DeSandro, Uma.

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy Tobias B. Haack, Robert Kopajtich, Peter Freisinger,

Volume 57, Issue 2, Pages (October 2000)

Figure 1 The de novo p.Lys33Gln mutation leads to OXPHOS defect in muscle The de novo p.Lys33Gln mutation leads to OXPHOS defect in muscle (A) Histopathologic.

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions Henna Tyynismaa,

Erratum The American Journal of Human Genetics

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect Hana Antonicka, Elsebet Østergaard, Florin Sasarman,

A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature.

Mitochondrial DNA–Deletion Mutations Accumulate Intracellularly to Detrimental Levels in Aged Human Skeletal Muscle Fibers Entela Bua, Jody Johnson,

Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene Véronique Satre,

Ryan McDaniell, Daniel M. Warthen, Pedro A

An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome Jaak Jaeken, Kevin Martens, Inge.

Volume 13, Issue 6, Pages (March 2004)

J. Fielding Hejtmancik, Xiaodong Jiao, Anren Li, Yuri V

PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G Kamran Ghaedi, Masanori.

NOBOX Homeobox Mutation Causes Premature Ovarian Failure

Analyses of the Effects That Disease-Causing Missense Mutations Have on the Structure and Function of the Winged-Helix Protein FOXC1 Ramsey A. Saleem,

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 Catarina M. Quinzii, Tuan H. Vu, K.

Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development K. Kosaki,

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

KIT Gene Deletions at the Intron 10−Exon 11 Boundary in GI Stromal Tumors Christopher L. Corless, Laura McGreevey, Ajia Town, Arin Schroeder, Troy Bainbridge,

Kun Wang, Bing Zhou, Yien-Ming Kuo, Jason Zemansky, Jane Gitschier

Coordination of Two Genomes by Mitochondrial Translational Plasticity

A Lack of Birbeck Granules in Langerhans Cells Is Associated with a Naturally Occurring Point Mutation in the Human Langerin Gene Pauline Verdijk, Remco.

A Second Recombination Hotspot Associated with SHOX Deletions

Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X- Linked Liver Glycogenosis Type I and II Jan Hendrickx, Philip Lee, James.

Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis Sandra Hanks,

Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton

A Second Leaky Splice-Site Mutation in the Spastin Gene

Biljana Ilkovski, Sandra T. Cooper, Kristen Nowak, Monique M

Dror Sharon, Michael A. Sandberg, Vivian W

Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy Hu Wang, Zhaohui Li, Jizheng Wang, Kai Sun, Qiqiong Cui, Lei Song, Yubao.

Why Have Organelles Retained Genomes?

On the Etruscan Mitochondrial DNA Contribution to Modern Humans

Adam T. McGeoch, Stephen D. Bell Cell

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies Haiyan Zhou, Martin Brockington, Heinz Jungbluth, David Monk, Philip Stanier,

Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis Sacha Ferdinandusse, Mari S. Ylianttila, Jolein.

Presentation transcript:

A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy Shamima Rahman, Jan-Willem Taanman, J. Mark Cooper, Isabelle Nelson, Ian Hargreaves, Brigitte Meunier, Michael G Hanna, José J. García, Roderick A. Capaldi, Brian D. Lake, James V. Leonard, Anthony H.V. Schapira The American Journal of Human Genetics Volume 65, Issue 4, Pages 1030-1039 (October 1999) DOI: 10.1086/302590 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 COX-activity staining (panels A and B) and COX immunohistochemical staining (panels C–H) in muscle. A = control; B = patient; C = COX subunit II (control); D = COX subunit II (patient); E = COX subunit I (patient); F = COX subunit IV (patient); G = COX subunit Va (patient); and H = COX subunit VIc (patient). Control sections stained for subunits I, IV, Va, and VIc appeared the same as section C. The American Journal of Human Genetics 1999 65, 1030-1039DOI: (10.1086/302590) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Immunoblot analysis of skeletal muscle mitochondrial fractions, from the patient (P) and two controls (C). Blots were developed with subunit-specific monoclonal antibodies to COX subunits, the flavoprotein subunit of SDH (SDH Fp), core protein 1 of complex III (core 1), the α subunit of F1-ATP synthase (F1-α), and VDAC. The American Journal of Human Genetics 1999 65, 1030-1039DOI: (10.1086/302590) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Flash photolysis and recombination spectra of the CO-ferroheme a3 compound of dissolved muscle mitochondria, from the patient and a control. After reduction by sodium dithionite and treatment with CO, laser-flash photolysis and recombination of CO was monitored at 430-445 nm versus time. The American Journal of Human Genetics 1999 65, 1030-1039DOI: (10.1086/302590) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Sequence chromatogram of mitochondrial COX II gene, in control sequence (top) and patient's sequence (bottom). The arrow indicates mutated base (adenine in place of wild-type thymine). The American Journal of Human Genetics 1999 65, 1030-1039DOI: (10.1086/302590) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 5 Alignment of amino acid sequence in COX subunit II (mitochondrial genome sequence data obtained from gopher directory at the Molecular Evolution and Organelle Genomics web site). The large box represents the first α-helical region in the bovine structure (Tsukihara et al. 1996). The mutation in our patients involves amino acid residue 29. The American Journal of Human Genetics 1999 65, 1030-1039DOI: (10.1086/302590) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 6 Structure of monomer of bovine cytochrome c oxidase. The diagram shows the assembled bovine holoenzyme, with an arrow indicating the site, in subunit II, that is mutated in our patient. The diagram was constructed with use of the data published by Tsukihara et al. (1996) in the Quanta program. The American Journal of Human Genetics 1999 65, 1030-1039DOI: (10.1086/302590) Copyright © 1999 The American Society of Human Genetics Terms and Conditions