MitoVariome: A variome database of human mitochondrial DNA

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Presentation transcript:

MitoVariome: A variome database of human mitochondrial DNA 8th InCoB 2008 Singapore MitoVariome: A variome database of human mitochondrial DNA Yong Seok Lee Korean BioInformation Center, KRIBB

Human mitochondrial DNA Maternally inherited Rapid evolutionary rate Lack of introns Absence of recombination Circular DNA, 16,569 bp 22 tRNAs, 2 rRNAs, 13 protein coding genes, and a non-coding region

Mitochondrial DNA sequence variation in human Having variation features (HVSI, HVSII, SNP, restriction enzyme sites, and STR) Providing critical information for studying human evolution, forensics, and aging process

Mt DNA databases

MitoVariome Over 5,000 complete human sequences of mitochondrial DNA Geographic location and haplogroup to elucidate the history of human evolution Linked to GenBank and Pubmed database Showing a graphical view of the variation information

MitoVariome scheme

MitoVariome input page

The MitoVariome main output page

Application of MitoVariome Useful for understanding mitochondrial variations of each individual, haplogroup, or geographical location Understanding of variation and its relationship with human evolution and disease Assignment of haplogroup

Example of MitoVariome A Korean genome (SJK) The first full length Korean individual genome sequence

Example of MitoVariome A Korean genome (SJK) The first full length Korean individual genome sequence

Conclusion A database and analysis server for human mitochondrial DNA variation A platform to retrieve all kinds of variation information The function to assign haplogroup with user SNP data Available at http://variome.kobic.re.kr/MitoVariome