Mitochondrial DNA, Maternal Inheritance and Human

Year 2021, Volume: 4 Issue: 2, 65 - 74, 21.06.2021

Can Veysel Şoroğlu , Ezgi Gizem Berkay , Burçak Vural

Abstract

Mitochondrial DNA (mtDNA) studies have been formed within the network of medicine, genetics, anthropology, and archeology. It has been an indispensable source of knowledge in relation to population relationships, migration routes, evolutionary developmental steps, and enlightening historical unknowns over the ages as well as being essential in researching maternally inherited mitochondrial diseases. mtDNA - haplogroup studies provide us advanced data with molecular genetic techniques and the development of next-generation sequencing technologies, which cannot be obtained with the classical approach of anthropological studies. In this review, mtDNA studies obtained from ancient and modern human materials were reviewed.

Keywords

mtDNA, Haplogroup, Archaeogenetics

Mitokondriyal DNA, Anaerkil Kalıtım ve İnsan

Abstract

Mitokondriyal DNA (mtDNA) çalışmaları tıp, genetik, antropoloji ve arkeoloji birlikteliği ile şekillenmektedir. Çağlar boyunca değişen akrabalık ilişkileri, göç yollarının tespiti, çeşitli nedenlerle yer değiştiren topluluklar, evrimsel gelişmeler, tarihi bilinmezlerin aydınlatılması ve maternal kalıtımlı mitokondriyal hastalıklar hakkında vazgeçilmez bir bilgi kaynağı olmuştur. Arkeolojik kazılardan elde edilen insan kalıntıları ile yapılan mtDNA – haplogrup çalışmaları, moleküler genetik tekniklerin ve yeni nesil dizileme teknolojilerinin gelişimi ile klasik antropolojik yaklaşımla elde edilmesi mümkün olmayan verilere ulaşmamızı sağlamaktadır. Bu derlemede antik ve modern insan materyallerinden elde edilen mtDNA çalışmaları incelenmiştir.

Keywords

mtDNA, Haplogrup, Arkeogenetik

References

• 1.Andersson SG, Karlberg O, Canbäck B, Kurland CG. On the origin of mitochondria: a genomics perspective. Philos Trans R Soc Lond B Biol Sci 2003;358(1429):165-79.
• 2.Gabaldón T, Huynen MA. From endosymbiont to host-controlled organelle: the hijacking of mitochondrial protein synthesis and metabolism. PLoS Comput Biol 2007;3(11):e219.
• 3.Sagan L. On the origin of mitosing cells. J Theoret. Biol 1967;14: 225-74.
• 4.Cohen T, Levin L, Mishmar D. Ancient Out-of-Africa Mitochondrial DNA Variants Associate with Distinct Mitochondrial Gene Expression Patterns. PLoS Genet 2016;12:e1006407.
• 5.Calvo SE, Clauser KR, Mootha VK. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res 2016;4:44(D1):D 1251-7.
• 6.McCormick EM, Muraresku CC, Falk MJ. Mitochondrial Genomics: A complex field now coming of age. Curr Genet Med Rep 2018;6(2):52-61.
• 7.St John JC, Lloyd REI, Bowles EJ, Thomas EC, El Shourbagy S. The consequences of nuclear transfer for mammalian foetal development and offspring survival. A mitochondrial DNA perspective. Reproduction 2004;127(6):631–41.
• 8.Scally A. The mutation rate in human evolution and demographic inference. Curr Opin Genet Dev 2016;41:36-43.
• 9.Deschamps M, Laval G, Fagny M, Itan Y, Abel L, Casanova JL, Patin E, Quintana-Murci L. Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes. Am J Hum Genet 2016;7;98(1):5-21.
• 10.Al-Khatib I, Shutt TE. Advances Towards Therapeutic Approaches for mtDNA Disease. In: Urbani A, Babu M, editors. Mitochondria in Health and in Sickness. Springer Singapore; 2019. p.217-224.
• 11.Luo S, Valencia CA, Zhang J, Lee N-C, Slone J, Gui B, et al. Biparental Inheritance of Mitochondrial DNA in Humans. Proc Natl Acad Sci USA 2018;115:13039–44.
• 12.Behar DM, van Oven M, Rosset S, Metspalu M, Loogväli EL, Silva NM, Kivisild T, Torroni A, Villems R. A “Copernican” reassessment of the human mitochondrial DNA tree from its root. Am J Hum Genet 2012;6;90(4):675-84.
• 13.Haplogroup 2020. https://isogg.org/wiki/Haplogroup. Erişim tarihi:16.12.2020.
• 14.Forster P. Ice Ages and the mitochondrial DNA chronology of human dispersals: a review. Phil Trans R Soc Lond B 2004:359(1442):255-64.
• 15.Hublin JJ, Ben-Ncer A, Bailey SE, Freidline SE, Neubauer S, Skinner MM et al. New fossils from Jebel Irhoud, Morocco and the pan-African origin of Homo sapiens. Nature. 2017;7;546(7657):289-92.
• 16.Schlebusch CM, Malmström H, Günther T, Sjödin P, Coutinho A, Edlund H et al. Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago. Science 2017;3;358(6363):652-5.
• 17.Benazzi S, Douka K, Fornai C, Bauer CC, Kullmer O, Svoboda J et al. Early dispersal of modern humans in Europe and implications for Neanderthal behaviour. Nature 2011:479(7374);525-8.
• 18.Hublin JJ. Palaeoanthropology: African origins. Nature 2011;476:395–5.
• 19.Tallavaara M, Luoto M, Korhonen N, Järvinen H, Seppä H. Human population dynamics in Europe over the Last Glacial Maximum. Proc Natl Acad Sci USA 2015;112(27):8232–7.
• 20.Posth C, Renaud G, Mittnik A, Drucker DG, Rougier H, Cupillard C et al. Pleistocene Mitochondrial Genomes Suggest a Single Major Dispersal of Non-Africans and a Late Glacial Population Turnover in Europe. Curr Biol 2016;21;26(6):827-33.
• 21.De Angelis F, Scorrano G, Martínez-Labarga C, Scano G, Macciardi F, Rickards O. Mitochondrial variability in the Mediterranean area: a complex stage for human migrations. Ann Hum Biol 2018;45(1):5-19.
• 22.Pala M, Achilli A, Olivieri A, Hooshiar Kashani B, Perego UA, Sanna D et al. Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians. Am J Hum Genet 2009;84(6):814-21.
• 23.Pipek OA, Medgyes-Horváth A, Dobos L, Stéger J, Szalai-Gindl J, Visontai D et al. Worldwide human mitochondrial haplogroup distribution from urban sewage. Scientific Reports 2019;9:11624.
• 24.Haak W, Balanovsky O, Sanchez JJ, Koshel S, Zaporozhchenko V, Adler CJ, et al. Members of the Genographic Consortium. Ancient DNA from European early neolithic farmers reveals their near eastern affinities. PLoS Biol 2010;9;8(11):e1000536.
• 25.Haak W, Forster P Bramanti B, Matsumura S, Brandt G, Tänzer M et al. Ancient DNA from the first European farmers in 7500-year-old Neolithic sites. Science 2005;310(5750):1016-8.
• 26.Deguilloux MF, Pemonge MH, Dubut V, Hughes S, Hänni C, Chollet L, et al. Human ancient and extant mtDNA from the Gambier Islands (French polynesia): evidence for an early Melanesian maternal contribution and new perspectives into the settlement of easternmost Polynesia. Am J Phys Anthropol 2011;144(2):248-57.
• 27.Hervella M, Izagirre N, Alonso S, Fregel R, Alonso A, Cabrera VM, et al. Ancient DNA from hunter-gatherer and farmer groups from Northern Spain supports a random dispersion model for the Neolithic expansion into Europe. PLoS One 2012;7(4):e34417.
• 28.Brandt G, Haak W, Adler CJ, Roth C, Szécsényi-Nagy A, Karimnia S, et al; Genographic Consortium. Ancient DNA reveals key stages in the formation of central European mitochondrial genetic diversity. Science 2013;342(6155):257-61.
• 29.Modi A, Nesheva D, Sarno S, Vai S, Karachanak-Yankova S, Luiselli D et al. Ancient human mitochondrial genomes from Bronze Age Bulgaria: new insights into the genetic history of Thracians. Sci Rep 2019;9:5412.
• 30.R Development Core Team R: A Language and Environment for Statistical Computing. http://www.R-project.org. 2010. Vienna, Austria: Foundation for Statistical Computing.
• 31.Yaka R, Birand A, Yılmaz Y, Caner C, Açan SC, Gündüzalp S et al. Archaeogenetics of Late Iron Age Çemialo Sırtı, Batman: Investigating maternal genetic continuity in north Mesopotamia since the Neolithic. Am J Phys Anthropol 2018;166(1):196-207.
• 32.Chyleński M, Ehler E, Somel M, Yaka R, Krzewińska M, Dabert M et al. Ancient Mitochondrial Genomes Reveal the Absence of Maternal Kinship in the Burials of Çatalhöyük People and Their Genetic Affinities. Genes (Basel) 201911;10(3):207.
• 33.Yorulmaz S. Çine-Tepecik insan iskelet kalıntılarının arkeogenomik analizi. Hacettepe Üniversitesi. Yüksek Lisans Tezi. 2019. Yöktez No: 577649.
• 34.Balcı B. Balıkesir/Antandros antik kenti kazısında bulunan insan iskeletlerinin moleküler analizleri. İstanbul Üniversitesi. Yüksek Lisans tezi. 2019. Yöktez No: 562031.
• 35.Ottoni C, Rasteiro R, Willet R, Claeys J, Talloen P, Van de Vijver K et al. Comparing maternal genetic variation across two millennia reveals the demographic history of an ancient human population in southwest Turkey. R Soc Open Sci 2016;3(2):150250.
• 36.Ghirotto S, Tassi F, Fumagalli E, Colonna V, Sandionigi A, Lari M et al. Origins and Evolution of the Etruscans’ mtDNA. PLoS ONE 2013;8:e55519.
• 37.Jehaes E, Pfeiffer H, Toprak K, Decorte R, Brinkmann B, Cassiman JJ. Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette. Eur J Hum Genet 2001;9(3):185-90.
• 38.Stone R. DNA forensics. Buried, recovered, lost again? The Romanovs may never rest. Science 2004;303(5659):753.
• 39.Hofreiter M, Loreille O, Ferriola D, Parsons TJ. Ongoing Controversy over Romanov Remains. Science 2004;306(5695):407–10.
• 40.Coble MD, Loreille OM, Wadhams MJ, Edson SM, Maynard K et al. Mystery Solved: The Identification of the Two Missing Romanov Children Using DNA Analysis. PLoS ONE 2009;4(3):e4838. https://doi.org/10.1371/journal.pone.0004838.
• 41.Knight A, Zhivotovsky LA, Kass DH, Litwin DE, Green LD, White PS et al. Molecular, forensic and haplotypic inconsistencies regarding theidentity of the Ekaterinburg remains. Annals of Human Biology 2004;31(2):129-38.