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Ancient biomolecules and the reconstruction of human population history

BIOSYSTEMS, ENERGY, AND CULTURAL HERITAGE: MATERIALS ENHANCEMENT FOR TECHNOLOGICAL APPLICATION. Ancient biomolecules and the reconstruction of human population history. Dr. Roberta Lelli Centre of Molecular Anthropology for the study of ancient DNA Department of Biology

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Ancient biomolecules and the reconstruction of human population history

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  1. BIOSYSTEMS, ENERGY, AND CULTURAL HERITAGE: MATERIALS ENHANCEMENT FOR TECHNOLOGICAL APPLICATION Ancient biomolecules and the reconstruction of human population history Dr. Roberta Lelli Centre of Molecular Anthropology for the study of ancient DNA Department of Biology University of Rome “Tor Vergata”

  2. Any DNA recovered from… 1. ANCIENT DNA1.1. What is it?

  3. 1. ANCIENT DNA1.2. History of ancient DNA studies

  4. 1. ANCIENT DNA1.3. Polymerase chain reaction - PCR Amplification of few and damaged DNA molecules

  5. - Contamination with modern DNA 1. ANCIENT DNA1.4. Problems of ancient DNA studies - Molecular damage Microorganisms Crosslinks Oxidation Hydrolysis

  6. “Ancient DNA: do it right or not at all.” Science 289, 1139 1. ANCIENT DNA1.5. The nine “gold criteria” - Cooper and Poinar, 2000

  7. D-loop mtDNAmolecule: 16,569 base pair in lenght OL ATPase 1. Phylogenetic analysis 1. ANCIENT DNA1.6. Anthropological applications ABUNDANCE IN HUMAN CELL: 100 to 10,000 copies per cell HIGH EVOLUTIONARY RATE: ca. 10 times faster than the nuclear genome MATERNAL INHERITANCE: no contribution of fathers to the mtDNA of their children males females

  8. 2. Human evolution “Mitochondrial Eve” Origin of modern humans: - single - African - recent 1. ANCIENT DNA1.6. Anthropological applications

  9. 2. Human evolution Neandertal: our direct ancestor or a separate species? 1. ANCIENT DNA1.6. Anthropological applications Neanderthal range (350,000-30,000 ya)

  10. 1. ANCIENT DNA1.6. Anthropological applications ThelweNeandertal specimens analysed for mtDNA

  11. Neandertal Africans Not-Africans Modern humans Africans Two different species! Homo neanderthalensis Homo sapiens

  12. 1. ANCIENT DNA1.6. Anthropological applications Krause et al., 2007 Lalueza-Fox et al., 2007

  13. 1. ANCIENT DNA1.6. Anthropological applications Next Generation Sequencing technologies(NGS) Green et al., 2008 Noonan et al., 2006 Green et al., 2006 Green et al., 2010

  14. 3. Human migration Neolithic transition in Europe 1. ANCIENT DNA1.6. Anthropological applications 6000 BP 6000 BP 7500 BP 8000 BP 7500 BP 9000 BP 7500 BP 10000 BP 7500 BP 8000 BP

  15. ♂ ♀ 112 bp 106 bp 4. Kinship analysis Genetic investigation of multiple burials 1. ANCIENT DNA1.6. Anthropological applications • Inference on social organization and funeral practices of the population examined 5. Molecular sex determination Amelogenin gene: present on both X- and Y-chromosome • Length polymorphism: • 106 bp (X-chromosome) • 112 bp (Y-chromosome)

  16. Balzi Rossi site (Liguria, Italy – 20,000-25,000 BP) - excavation of a triple burial 1. ANCIENT DNA1.6. Anthropological applications 1 male adult 2 female adolescents sharing the same mitochondrial profile more likely hypothesis: a father buried simultaneously with his daughters

  17. 6. Paleopathology • - Identification of bacterial, protozoan and viral infections(i.e. Mycobacterium tubercolosis, Yersinia pestis, Plasmodium falciparum) to: • reconstruct the history of infectious disease in past civilization • study the evolution of a pathogen 1. ANCIENT DNA1.6. Anthropological applications - Analysis of calcified dental plaque to evaluate changes in oral microbiota due to dietary shifts of the Neolithic

  18. 6. Paleopathology Cosa site (Tuscany, Italy – I century AD) - excavation of a female skeleton affected by celiac desease: the first case in Italy! 1. ANCIENT DNA1.6. Anthropological applications - Molecular analysis of three HLA markers associated to celiac disease: DQ8 - DQ2.2 - DQ2.5(Monsuur et al., 2008) - Diagnosis confirmed also on molecular level - Probable consumption of cereal

  19. Valuable tool for the reconstruction of past population diets (or palaeodiets) 2. STABLE ISOTOPES2.1. Carbon and nitrogen stable isotope analysis

  20. 2. STABLE ISOTOPES2.1. Carbon and nitrogen stable isotope analysis a) Conducted on bone collagen: ~90% of organic matter in bone • synthesized from dietary proteins • turnover rate: ca. 10-15 years dietary record of ca. 10 years prior to death b) Distinct 13C/12C and 15N/14N of food resources

  21. 2. STABLE ISOTOPES2.1. Carbon and nitrogen stable isotope analysis Isotope values are expressed in delta notation (): fractional difference in parts per thousand (‰) from a common standard: R: heavy isotope / light isotope x: sample s: standard (in ‰) = (Rx / Rs - 1) x1000 the most of biological material contain less 13C than the mineral used as the standard (PDB) 13C (13C/12C) <0 the most of biological materials contain more 15N than the standard (air) 15N (15N/14N) >0

  22. 2. STABLE ISOTOPES2.1. Carbon and nitrogen stable isotope analysis Marine mammals Ichthyophagi TERRESTRIAL ECOSYSTEM MARINE DIET Fishes Carnivores Shellfish TERRESTRIAL C4 DIET (maize, millet) TERRESTRIAL C3 DIET (wheat, legumes) Omnivores MARINE ECOSYSTEM Herbivores

  23. CONCLUDING REMARK The integrated biomolecular approach is the most suitable tool to provide an accurate and complete view of human population history

  24. Centre of Molecular Anthropology for the study of ancient DNA-Department of Biology - University of Rome “Tor Vergata” THANK YOU FOR THE ATTENTION! Director: Prof. Olga Rickards Researchers:Dr. Cristina Martìnez-Labarga Dr.GiuseppinaScano Technicians:Dr. Irene Contini Dr.Flavio De Angelis Postdoctoral researchers:Dr. Roberta Lelli Dr. Gabriele Scorrano PhD students: Alessandro Cianfanelli Tullia Di Corcia MicaelaGnes GiusyPrimativo

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