Toward a mtDNA locus-specific mutation database using the LOVD platform.

Human Mutation
Joanna L ElsonRobert McFarland

Abstract

The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans; however, identification of the pathogenic mutations responsible can be problematic. In this article, we provide explanations as to why and suggest how such difficulties might be overcome. We put forward a case in support of a new Locus Specific Mutation Database (LSDB) implemented using the Leiden Open-source Variation Database (LOVD) system that will not only list primary mutations, but also present the evidence supporting their role in disease. Critically, we feel that this new database should have the capacity to store information on the observed phenotypes alongside the genetic variation, thereby facilitating our understanding of the complex and variable presentation of mtDNA disease. LOVD supports fast queries of both seen and hidden data and allows storage of sequence variants from high-throughput sequence analysis. The LOVD platform will allow construction of a secure mtDNA database; one that can fully utilize currently available data, as well as that being generated by high-throughput sequencing, to link gen...Continue Reading

References

May 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·R J Monnat, L A Loeb
Apr 9, 1981·Nature·S AndersonI G Young
Jan 1, 1996·Nucleic Acids Research·A M KogelnikD C Wallace
Mar 5, 1999·Science·D C Wallace
Dec 15, 2000·American Journal of Human Genetics·J L ElsonN Howell
Oct 2, 2001·American Journal of Medical Genetics·S DiMauro, E A Schon
Jan 19, 2002·Nature Genetics·Robert McFarlandDouglass M Turnbull
Sep 24, 2004·American Journal of Medical Genetics. Part a·R McFarlandN Howell
Nov 4, 2004·Trends in Genetics : TIG·Robert McFarlandDouglass M Turnbull
Dec 21, 2004·Nucleic Acids Research·Marty C BrandonDouglas C Wallace
Jun 17, 2005·Biochemical and Biophysical Research Communications·Hans-Jürgen BandeltYong-Gang Yao
Jun 24, 2005·Journal of Medical Genetics·A L MitchellD M Turnbull
Jan 13, 2006·Human Genetics·Joanna L ElsonNeil Howell
Oct 6, 2006·Journal of Human Genetics·Hans-Jürgen BandeltClaudio M Bravi
Nov 25, 2006·Biochemical and Biophysical Research Communications·Hans-Jürgen BandeltClaudio M Bravi
Nov 25, 2006·Neuromuscular Disorders : NMD·C PhoenixR McFarland
Dec 21, 2006·Nucleic Acids Research·Eduardo Ruiz-PesiniDouglas C Wallace
May 8, 2007·International Journal of Cardiology·Hans-Jürgen BandeltAntonio Salas
Sep 22, 2007·Annals of Neurology·Andrew M SchaeferDouglass M Turnbull
Jan 8, 2008·Journal of Medical Genetics·H A L TuppenR W Taylor
Jul 10, 2008·Journal of Medical Genetics·Y-G YaoH-J Bandelt
Aug 5, 2008·American Journal of Human Genetics·Hannah R ElliottPatrick F Chinnery
Oct 15, 2008·Human Mutation·Mannis van Oven, Manfred Kayser
Oct 28, 2008·Human Mutation·Jianghua OuRolf H Sijmons
Sep 19, 2009·Biochimica Et Biophysica Acta·Helen A L TuppenRobert W Taylor
Feb 6, 2010·Journal of Inherited Metabolic Disease·Izelle SmutsFrancois H van der Westhuizen
Mar 5, 2010·Nature·Yiping HeNickolas Papadopoulos
Jul 24, 2010·Lancet Neurology·Robert McFarlandDouglass M Turnbull
Aug 11, 2010·American Journal of Human Genetics·Mingkun LiMark Stoneking
Oct 28, 2010·European Journal of Human Genetics : EJHG·Michael V ZaragozaDouglas C Wallace
Apr 27, 2011·Human Mutation·Ivo F A C FokkemaJohan T den Dunnen
May 5, 2011·Journal of Inherited Metabolic Disease·Samira AchouitarEva Morava
Aug 30, 2011·Biochimica Et Biophysica Acta·Pinar CoskunDouglas C Wallace
Jan 20, 2012·European Journal of Human Genetics : EJHG·Elizna M van der WaltFrancois H van der Westhuizen

❮ 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.