Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L

Slides:

Advertisements

Similar presentations

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.

Advertisements

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

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

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome Lisa G. Riley,

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann,

Genetic Parameters and Trends in the Chilean Multibreed Dairy Cattle Population* M.A. Elzo, A. Jara, N. Barria Journal of Dairy Science Volume 87, Issue.

The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.

Nonlinear Poisson Equation for Heterogeneous Media Langhua Hu, Guo-Wei Wei Biophysical Journal Volume 103, Issue 4, Pages (August 2012) DOI: /j.bpj

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

Anna Middleton, J. Hewison, R.F. Mueller

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Public Opinion about the Importance of Privacy in Biobank Research

Anna Middleton, J. Hewison, R.F. Mueller

Human Diallelic Insertion/Deletion Polymorphisms

The Diversity Present in 5140 Human Mitochondrial Genomes

Next-Generation Sequencing: Methodology and Application

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

The Structure of Diversity within New World Mitochondrial DNA Haplogroups: Implications for the Prehistory of North America Ripan S. Malhi, Jason A.

Yu Jiang, Glen A. Satten, Yujun Han, Michael P. Epstein, Erin L

P. F. Chinnery, G. A. Taylor, N. Howell, D. T. Brown, T. J. Parsons, D

Genetics, Individuality, and Medicine in the 21st Century*

A Predominantly Indigenous Paternal Heritage for the Austronesian-Speaking Peoples of Insular Southeast Asia and Oceania Cristian Capelli, James F. Wilson,

Databases for Clinical Research

Quantification of trace amounts of human and non-human mitochondrial DNA (mtDNA) using SYBR Green and real time PCR Shanan S. Tobe, Adrian Linacre Forensic.

Kristina Allen-Brady, Peggy A. Norton, James M

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Modifying Mitochondrial tRNAs: Delivering What the Cell Needs

Chapter 2 Demographics Journal of Obstetrics and Gynaecology Canada

Sang Hong Lee, Naomi R. Wray, Michael E. Goddard, Peter M. Visscher

A Weighted False Discovery Rate Control Procedure Reveals Alleles at FOXA2 that Influence Fasting Glucose Levels Chao Xing, Jonathan C. Cohen, Eric Boerwinkle

Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk Tom G. Richardson,

Olga A. Derbeneva, Elena B. Starikovskaya, Douglas C. Wallace, Rem I

Johanna Jakobsdottir, Mary Sara McPeek

Dan-Yu Lin, Zheng-Zheng Tang The American Journal of Human Genetics

The SNP Endgame: A Multidisciplinary Approach*

Yu Jiang, Yujun Han, Slavé Petrovski, Kouros Owzar, David B

Erratum The American Journal of Human Genetics

American Journal of Kidney Diseases

Genetically Determined Partial Complement C4 Deficiency States Are Not Independent Risk Factors for SLE in UK and Spanish Populations Lora Boteva, David L.

Female-to-Male Breeding Ratio in Modern Humans—an Analysis Based on Historical Recombinations Damian Labuda, Jean-François Lefebvre, Philippe Nadeau,

J.L. Elson, D.C. Samuels, D.M. Turnbull, P.F. Chinnery

Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond

Victor Almon McKusick, MD, 1921–2008, In Memoriam

L-GATOR: Genetic Association Testing for a Longitudinally Measured Quantitative Trait in Samples with Related Individuals Xiaowei Wu, Mary Sara McPeek

Quiz page answers August 2003

Long Runs of Homozygosity Are Enriched for Deleterious Variation

Discussion The Journal of Thoracic and Cardiovascular Surgery

Journal of the American College of Surgeons

Hereditary mtDNA Heteroplasmy: A Baseline for Aging?

On the Etruscan Mitochondrial DNA Contribution to Modern Humans

Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians Matthew C.

Alice S. Whittemore, Jerry Halpern

James A. DeWeese, MD Journal of Vascular Surgery

Anna Middleton, J. Hewison, R.F. Mueller

Zuoheng Wang, Mary Sara McPeek The American Journal of Human Genetics

Passorn Wonnapinij, Patrick F. Chinnery, David C. Samuels

Presentation transcript:

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L. Relton, Patrick F. Chinnery The American Journal of Human Genetics Volume 83, Issue 2, Pages 254-260 (August 2008) DOI: 10.1016/j.ajhg.2008.07.004 Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 1 Percentage of Mutated mtDNA in the 15 Mutation-Positive Cases Red: m.14484T→C; blue: m.11778G→A; green: m.3460G→A; black: m.3243A→G; orange: m.1555A→G. The American Journal of Human Genetics 2008 83, 254-260DOI: (10.1016/j.ajhg.2008.07.004) Copyright © 2008 The American Society of Human Genetics Terms and Conditions