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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Saccone C, Pesole G., Sbisa E. 1991. The main regulatory region of mammalian mitochondrial DNA: Structure-function model and evolutionary pattern. J. Mol. Evol. 33, 83–91.
Douzery E., Randi E. 1997. The mitochondrial control region of Cervidae: Evolutionary patterns and phylogenetic content. Mol. Biol. Evol. 14, 1154–1166.
Brown G., Gadaleta G., Pepe G., Saccone C., Sbisà E. 1986. Structural conservation and variation in the D-loop-containing region of vertebrate mitochondrial DNA. J. Mol. Biol. 192, 503–511.
Baker A., Marshall H. 1997. Mitochondrial control region sequences as tools for understanding evolution. In: Avian Molecular Evolution and Systematics. Ed. Mindell D. San Diego: Academic Press, pp. 51–82.
Anderson S., Bankier A.T., Barrell G.B., de Bruijn M.H.L., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J.H., Staden R., Young I.G. 1981. Sequence and organization of the human mitochondrial genome. Nature. 290, 457–465.
Chang D.D., Clayton D.A. 1985. Priming of human mitochondrial DNA replication occurs at the lightstrand promoter. Proc. Natl. Acad. Sci. USA. 82, 351–355.
Malyarchuk B.A. 2008. Cold spots of human mitochondrial DNA hypervariable segment 1. Mol. Biol. 42, 399–402.
Kornienko I.V., Gavrilei Yu.K., Braslavskaya S.I., Afanas’eva G.V., Shcherbakova E.V., Mikhalkovich L.S., Ivanov P.L. 2002. Polymorphism of the mitochondrial DNA control region in the population of the Russian Federation. Izv. Vyssh. Uchebn. Zaved. (Sev. Kavk. Region): Estestv. Nauki. 4, 54–56.
Kornienko I.V., Gavrilei Yu.K., Braslavskaya S.I., Afanas’eva G.V., Shcherbakova E.V., Mikhalkovich L.S., Ivanov PL. 2003. Location and frequency of polymorphic positions in hypervariable region 2 (73–340) of mitochondrial DNA. Izv. Vyssh. Uchebn. Zaved. (Sev. Kavk. Region): Estestv. Nauki. 1, 60–64.
Gavrilei Yu.K., Kornienko I.V., Shcherbakov V.V., Ivanov P.L. 2002. Development of the mDNAbase automated system of mtDNA sequencing data analysis for expert identification of unidentified human remains submitted in large numbers. Sud. Med. Ekspert. 5, 15–21.
Lifton R.P., Goldberg M.L., Karp R.W., Hogness D.S. 1978. The organization of the histone genes in Drosophila melanogaster: Functional and evolutionary imprications. Cold Spring Harbor Symp. Quant. Biol. 42, 1047–1051.
Xu X., Arnason U. 1996. A complete sequence of the mitochondrial genome of the Western lowland gorilla. Mol. Biol. Evol. 3, 691–698.
Arnason U., Gullberg A., Xu X. 1996. A complete mitochondrial DNA molecule of the white-handed gibbon, Hylobates lar, and comparison among individual mitochondrial genes of all hominoid genera. Hereditas. 124, 185–189.
Arnason U., Gullberg A., Janke A. 1998. Molecular timing of primate divergences as estimated by two nonprimate calibration points. J. Mol. Evol. 47, 718–727.
Hixson J.E., Brown W.M. 1986. A comparison of the small ribosomal RNA genes from the mitochondrial DNA of the great apes and humans: Sequence, structure, evolution, and phylogenetic implications. Mol. Biol. Evol. 3, 1–18.
Foran D.R, Hixson J.E., Brown WM. 1988. Comparisons of ape and human sequences that regulate mitochondrial DNA transcription and D4oop DNA synthesis. Nucleic Acids Res. 16, 5841–5861.
Horai S., Satta Y., Hayasaka K., Kondo R., Inoue T., Ishida T., Hayashi S., Takahata N. 1992. Man’splace in Hominoidea revealed by mitochondrial DNA genealogy. J. Mol. Evol. 35, 32–43.
Horai S., Hayasaka K., Kondo R, Tsugane K., Takahata N. 1995. RecentAfricanoriginof modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc. Natl. Acad. Sci. USA. 92, 532–536.
Sbisa E., Tanzariello F., Reyes A., Pesole G., Saccone C. 1997. Mammalian mitochondrial D4oop region structural analysis: identification of new conserved sequences and their functional and evolutionary implications. Gene. 205, 125–140.
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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