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Patterns of single nucleotide polymorphism distribution in hypervariable regions of the D-loop of human mitochondrial DNA

  • Genomics. Transcriptomics
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Abstract

The D4oop of mtDNA is a noncoding locus actively used as an individualizing marker in molecular genetic research. Uneven distribution of SNPs in the D-loop suggests that the functional load within this region is irregular. The nucleotide sequence analysis was used to evaluate the structural and functional role of various D-loop sites of a single individual’s mtDNA an d their importance in terms of phylogenetic conservatism. The role of duplication of various D-loop elements (TAS, ETAS, CSB elements) in increasing the reliability of the mtDNA replication initiation and termination is discussed.

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Correspondence to I. V. Kornienko.

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Original Russian Text © I.V. Kornienko, D.I. Vodolazhsky, 2010, published in Molekulyarnaya Biologiya, 2010, Vol. 44, No. 3,pp. 439–446.

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Kornienko, I.V., Vodolazhsky, D.I. Patterns of single nucleotide polymorphism distribution in hypervariable regions of the D-loop of human mitochondrial DNA. Mol Biol 44, 386–392 (2010). https://doi.org/10.1134/S0026893310030052

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  • DOI: https://doi.org/10.1134/S0026893310030052

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