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This article is part of the supplement: Italian Society of Bioinformatics (BITS): Annual Meeting 2005

Open Access Research article

HmtDB, a Human Mitochondrial Genomic Resource Based on Variability Studies Supporting Population Genetics and Biomedical Research

Marcella Attimonelli1*, Matteo Accetturo1, Monica Santamaria1, Daniela Lascaro1, Gaetano Scioscia2, Graziano Pappadà2, Luigi Russo2, Luigi Zanchetta2 and Mila Tommaseo-Ponzetta3

Author Affiliations

1 Dipartimento di Biochimica e Biologia Molecolare, Università di Bari, Via E. Orabona 4, 70126 Bari (Italy)

2 Java Technology Center, IBM Semea Sud, Via Tridente 42/14, 70125 Bari (Italy)

3 Dipartimento di Zoologia, Università di Bari, Via E. Orabona 4, 70126 Bari (Italy)

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BMC Bioinformatics 2005, 6(Suppl 4):S4  doi:10.1186/1471-2105-6-S4-S4

Published: 1 December 2005

Abstract

Background

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. 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.

Results

HmtDB 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 http://www.hmdb.uniba.it webcite.

Conclusion

The 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.