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Human MtDB


NAR Molecular Biology Database Collection entry number 824
Ingman M.
Molecular Anthropology, Section of Medical Genetics, Department of Genetics and Pathology, Uppsala University, SE-751 85 Uppsala, Sweden

Database Description

The mitochondrial genome, contained in the subcellular mitochondrial network, encodes a small number of peptides pivotal for cellular energy production. Mitochondrial genes are highly polymorphic and cataloguing existing variation is of interest for medical scientists involved in the identification of mutations causing mitochondrial dysfunction, as well as for population genetics studies. mtDB has provided a comprehensive database of complete human mitochondrial genomes since early 2000. At this time, due to an increase in the number of published complete human mitochondrial genome sequences, it became necessary to provide a web-based database of human whole genome and complete coding region sequences. As of August 2005 this database contains 2104 sequences (1544 complete genome and 560 coding region) available to download or search for specific polymorphisms. Of special interest to medical researchers and population geneticists evaluating specific positions is a complete list of (currently 3311) mitochondrial polymorphisms among these sequences. Recent expansions in the capabilities of mtDB include a haplotype search function and the ability to identify and download sequences carrying particular variants.


Go to the abstract in the NAR 2006 Database Issue.
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