Review


DOI :10.26650/JARHS2021-783621   IUP :10.26650/JARHS2021-783621    Full Text (PDF)

mtDNA, Haplogrup, Arkeogenetik

Can Veysel ŞoroğluEzgi Gizem BerkayBurçak Vural

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. 

DOI :10.26650/JARHS2021-783621   IUP :10.26650/JARHS2021-783621    Full Text (PDF)

Mitokondriyal DNA, Anaerkil Kalıtım ve İnsan

Can Veysel ŞoroğluEzgi Gizem BerkayBurçak Vural

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.


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References

  • 1. Andersson SG, Karlberg O, Canback B, Kurland CG. On the origin of mitochondria: a genomics perspective. Philos Trans R Soc Lond B Biol Sci 2003;358(1429):165-79. google scholar
  • 2. Gabaldon T, Huynen MA. From endosymbiont to host-controlled organelle: the hijacking of mitochondrial protein synthesis and metabolism. PLoS Comput Biol 2007;3(11):e219. google scholar
  • 3. Sagan L. On the origin of mitosing cells. J Theoret. Biol 1967;14: 225-74. google scholar
  • 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. google scholar
  • 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. google scholar
  • 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. google scholar
  • 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. google scholar
  • 8. Scally A. The mutation rate in human evolution and demographic inference. Curr Opin Genet Dev 2016;41:36-43. google scholar
  • 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. google scholar
  • 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. google scholar
  • 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. google scholar
  • 12. Behar DM, van Oven M, Rosset S, Metspalu M, Loogvali 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. google scholar
  • 13. Haplogroup 2020. https://isogg.org/wiki/ Haplogroup. Erişim tarihi:16.12.2020. google scholar
  • 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. google scholar
  • 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. google scholar
  • 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. google scholar
  • 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. google scholar
  • 18. Hublin JJ. Palaeoanthropology: African origins. Nature 2011;476:395-5. google scholar
  • 19. Tallavaara M, Luoto M, Korhonen N, Jarvinen H, Seppa H. Human population dynamics in Europe over the Last Glacial Maximum. Proc Natl Acad Sci USA 2015;112(27):8232-7. google scholar
  • 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. google scholar
  • 21. De Angelis F, Scorrano G, Martmez-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. google scholar
  • 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. google scholar
  • 23. Pipek OA, Medgyes-Horvâth A, Dobos L, Steger J, Szalai-Gindl J, Visontai D et al. Worldwide human mitochondrial haplogroup distribution from urban sewage. Scientific Reports 2019;9:11624. google scholar
  • 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. google scholar
  • 25. Haak W, Forster P Bramanti B, Matsumura S, Brandt G, Tanzer M et al. Ancient DNA from the first European farmers in 7500-year-old Neolithic sites. Science 2005;310(5750):1016-8. google scholar
  • 26. Deguilloux MF, Pemonge MH, Dubut V, Hughes S, Hanni 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. google scholar
  • 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. google scholar
  • 28. Brandt G, Haak W, Adler CJ, Roth C, Szecsenyi-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. google scholar
  • 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. google scholar
  • 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. google scholar
  • 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. google scholar
  • 32. Chylenski M, Ehler E, Somel M, Yaka R, Krzewinska 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. google scholar
  • 33. Yorulmaz S. Çine-Tepecik insan iskelet kalıntılarının arkeogenomik analizi. Hacettepe Üniversitesi. Yüksek Lisans Tezi. 2019. Yöktez No: 577649. google scholar
  • 34. Balcı B. Balıkesir/Antandros antik kenti kazısında bulunan insan iskeletlerinin moleküler analizleri. İstanbul Üniversitesi. Yüksek Lisans tezi. 2019. Yöktez No: 562031. google scholar
  • 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. google scholar
  • 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. google scholar
  • 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. google scholar
  • 38. Stone R. DNA forensics. Buried, recovered, lost again? The Romanovs may never rest. Science 2004;303(5659):753. google scholar
  • 39. Hofreiter M, Loreille O, Ferriola D, Parsons TJ. Ongoing Controversy over Romanov Remains. Science 2004;306(5695):407-10. google scholar
  • 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. google scholar
  • 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. google scholar

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APA

Şoroğlu, C.V., Berkay, E.G., & Vural, B. (2021). mtDNA, Haplogrup, Arkeogenetik. Journal of Advanced Research in Health Sciences, 4(2), 65-74. https://doi.org/10.26650/JARHS2021-783621


AMA

Şoroğlu C V, Berkay E G, Vural B. mtDNA, Haplogrup, Arkeogenetik. Journal of Advanced Research in Health Sciences. 2021;4(2):65-74. https://doi.org/10.26650/JARHS2021-783621


ABNT

Şoroğlu, C.V.; Berkay, E.G.; Vural, B. mtDNA, Haplogrup, Arkeogenetik. Journal of Advanced Research in Health Sciences, [Publisher Location], v. 4, n. 2, p. 65-74, 2021.


Chicago: Author-Date Style

Şoroğlu, Can Veysel, and Ezgi Gizem Berkay and Burçak Vural. 2021. “mtDNA, Haplogrup, Arkeogenetik.” Journal of Advanced Research in Health Sciences 4, no. 2: 65-74. https://doi.org/10.26650/JARHS2021-783621


Chicago: Humanities Style

Şoroğlu, Can Veysel, and Ezgi Gizem Berkay and Burçak Vural. mtDNA, Haplogrup, Arkeogenetik.” Journal of Advanced Research in Health Sciences 4, no. 2 (Jun. 2022): 65-74. https://doi.org/10.26650/JARHS2021-783621


Harvard: Australian Style

Şoroğlu, CV & Berkay, EG & Vural, B 2021, 'mtDNA, Haplogrup, Arkeogenetik', Journal of Advanced Research in Health Sciences, vol. 4, no. 2, pp. 65-74, viewed 30 Jun. 2022, https://doi.org/10.26650/JARHS2021-783621


Harvard: Author-Date Style

Şoroğlu, C.V. and Berkay, E.G. and Vural, B. (2021) ‘mtDNA, Haplogrup, Arkeogenetik’, Journal of Advanced Research in Health Sciences, 4(2), pp. 65-74. https://doi.org/10.26650/JARHS2021-783621 (30 Jun. 2022).


MLA

Şoroğlu, Can Veysel, and Ezgi Gizem Berkay and Burçak Vural. mtDNA, Haplogrup, Arkeogenetik.” Journal of Advanced Research in Health Sciences, vol. 4, no. 2, 2021, pp. 65-74. [Database Container], https://doi.org/10.26650/JARHS2021-783621


Vancouver

Şoroğlu CV, Berkay EG, Vural B. mtDNA, Haplogrup, Arkeogenetik. Journal of Advanced Research in Health Sciences [Internet]. 30 Jun. 2022 [cited 30 Jun. 2022];4(2):65-74. Available from: https://doi.org/10.26650/JARHS2021-783621 doi: 10.26650/JARHS2021-783621


ISNAD

Şoroğlu, CanVeysel - Berkay, EzgiGizem - Vural, Burçak. mtDNA, Haplogrup, Arkeogenetik”. Journal of Advanced Research in Health Sciences 4/2 (Jun. 2022): 65-74. https://doi.org/10.26650/JARHS2021-783621



TIMELINE


Submitted21.08.2020
Accepted05.03.2021
Published Online19.06.2021

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