Laboratory of Bioinformatics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), 71013, Italy.
Department of Experimental Medicine, Sapienza University of Rome, Rome 00161, Italy.
Nucleic Acids Res. 2021 Jan 8;49(D1):D1282-D1288. doi: 10.1093/nar/gkaa1032.
Numerous lines of evidence have shown that the interaction between the nuclear and mitochondrial genomes ensures the efficient functioning of the OXPHOS complexes, with substantial implications in bioenergetics, adaptation, and disease. Their interaction is a fascinating and complex trait of the eukaryotic cell that MitImpact explores with its third major release. MitImpact expands its collection of genomic, clinical, and functional annotations of all non-synonymous substitutions of the human mitochondrial genome with new information on putative Compensated Pathogenic Deviations and co-varying amino acid sites of the Respiratory Chain subunits. It further provides evidence of energetic and structural residue compensation by techniques of molecular dynamics simulation. MitImpact is freely accessible at http://mitimpact.css-mendel.it.
大量证据表明，核基因组和线粒体基因组之间的相互作用确保了 OXPHOS 复合物的有效功能，这对生物能量学、适应和疾病有重大影响。它们的相互作用是真核细胞的一个迷人而复杂的特征，MitImpact 用其第三个主要版本探索了这一特征。MitImpact 扩展了其基因组、临床和功能注释的集合，包括人类线粒体基因组中所有非同义替换的信息，以及呼吸链亚基的潜在补偿致病性偏差和共变氨基酸位点的新信息。它进一步通过分子动力学模拟技术提供了能量和结构残基补偿的证据。MitImpact 可在 http://mitimpact.css-mendel.it 免费访问。
