Abstract
BackgroundPopulation genetics studies based on the analysis of mtDNA and mitochondrial disease studies have produced a huge quantity of sequence data and related information. These data are at present worldwide distributed in differently organised databases and web sites not well integrated among them. Moreover it is not generally possible for the user to submit and contemporarily analyse its own data comparing them with the content of a given database, both for population genetics and mitochondrial disease data.ResultsHmtDB is a well-integrated web-based human mitochondrial bioinformatic resource aimed at supporting population genetics and mitochondrial disease studies, thanks to a new approach based on site-specific nucleotide and aminoacid variability estimation. HmtDB consists of a database of Human Mitochondrial Genomes, annotated with population data, and a set of bioinformatic tools, able to produce site-specific variability data and to automatically characterize newly sequenced human mitochondrial genomes. A query system for the retrieval of genomes and a web submission tool for the annotation of new genomes have been designed and will soon be implemented. The first release contains 1255 fully annotated human mitochondrial genomes. Nucleotide site-specific variability data and multialigned genomes can be downloaded. Intra-human and inter-species aminoacid variability data estimated on the 13 coding for proteins genes of the 1255 human genomes and 60 mammalian species are also available. HmtDB is freely available, upon registration, at .ConclusionThe HmtDB project will contribute towards completing and/or refining haplogroup classification and revealing the real pathogenic potential of mitochondrial mutations, on the basis of variability estimation.
Highlights
Population genetics studies based on the analysis of mitochondrial DNA (mtDNA) and mitochondrial disease studies have produced a huge quantity of sequence data and related information
Due to an inefficient repair system, mitochondrial DNA mutations are more fixed with respect to nuclear DNA, making mtDNA transitorily heteroplasmic
HmtDB Aims and design The aims of HmtDB are (1) to collect and integrate all human mitochondrial genomes publicly available, (2) to produce and provide the scientific community with sitespecific nucleotide and aminoacid variability data estimated on all available human mitochondrial genome sequences through the automatic application of Variability Generation Work Flow (VGWF), (3) to allow researchers to analyse their own human mitochondrial sequences in order to detect automatically any nucleotide variants according to the revised Cambridge Reference Sequence and to predict their haplogroup paternity
Summary
Population genetics studies based on the analysis of mtDNA and mitochondrial disease studies have produced a huge quantity of sequence data and related information. These data are at present worldwide distributed in differently organised databases and web sites not well integrated among them. It is not generally possible for the user to submit and contemporarily analyse its own data comparing them with the content of a given database, both for population genetics and mitochondrial disease data. The mtDNA population rapidly becomes homoplasmic being the mutation fixed in one individual. If this mutation is not apparently deleterious and is transmitted to the following generations, this mutation can be considered fixed in the lineage
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