| Toward a mtDNA locus-specific mutation database using the LOVD platform | |
| Elson JL*1,2; Sweeney MG3; Kong QP6; van der Westhuizen FH7; Pitceathly RDS8; Thorburn DR9; Lott MT10; Wallace DC10; Procaccio V4; Taylor RW2; McFarland R2; Yarham JW1; Salas A5; joanna.elson@ncl.ac.uk | |
| 2012 | |
| 发表期刊 | HUMAN MUTATION
 |
| 卷号 | 33期号:9页码:1352-1358 |
| 摘要 | 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 genotype with phenotype enhancing our understanding of mitochondrial disease, with a view to providing better prognostic information. |
| 关键词 | Mtdna Lovd Mutation Human Variome Project Haplogroup |
| 语种 | 英语 |
| 文献类型 | 期刊论文 |
| 条目标识符 | http://ir.kiz.ac.cn/handle/152453/10381 |
| 专题 | 科研部门_分子人类学（孔庆鹏） 其他 |
| 通讯作者 | joanna.elson@ncl.ac.uk |
| 作者单位 | 1.Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom 2.Mitochondrial Research Group, Institute of Genetic Medicine, Centre for Life, Central Parkway, Newcastle University, Newcastle upon Tyne, United Kingdom 3.Neurogenetics Unit, Department of Molecular Neuroscience, National Hospital for Neurology and Neurosurgery, London, United Kingdom 4.LUNAM University, Department of Biochemistry and Genetics, Angers University Hospital Angers, UMR CNRS 6214-INSERM U1083, France 5.Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Medicina Legal, Facultade de Medicina, Universidad de Santiago de Compostela, Galicia, Spain 6.Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, P. R. China 7.Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa 8.MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom 9.Murdoch Childrens Research Institute and University of Melbourne Department of Paediatrics, The Royal Children’s Hospital, Parkville, VIC, Australia 10.Center of Mitochondrial and Epigenomic Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA |
| 推荐引用方式 GB/T 7714 | Elson JL*,Sweeney MG,Kong QP,et al. Toward a mtDNA locus-specific mutation database using the LOVD platform[J]. HUMAN MUTATION,2012,33(9):1352-1358. |
| APA | Elson JL*.,Sweeney MG.,Kong QP.,van der Westhuizen FH.,Pitceathly RDS.,...&joanna.elson@ncl.ac.uk.(2012).Toward a mtDNA locus-specific mutation database using the LOVD platform.HUMAN MUTATION,33(9),1352-1358. |
| MLA | Elson JL*,et al."Toward a mtDNA locus-specific mutation database using the LOVD platform".HUMAN MUTATION 33.9(2012):1352-1358. |
| 条目包含的文件 | ||||||
| 文件名称/大小 | 文献类型 | 版本类型 | 开放类型 | 使用许可 | ||
| 2016081902.pdf（204KB） | 期刊论文 | 出版稿 | 开放获取 | CC BY-NC-SA | 请求全文 | |
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