Click here to download

The evolution of human populations. The storytelling from the genome
Journal Title: PARADIGMI 
Author/s: Martina Lari, David Caramelli 
Year:  2017 Issue: Language: English 
Pages:  10 Pg. 113-122 FullText PDF:  147 KB
DOI:  10.3280/PARA2017-002008
(DOI is like a bar code for intellectual property: to have more infomation:  clicca qui   and here 

The first sequence of the human genome was completed in 2000 at the end of a pioneering project which lasted 10 years. Since then much has been done, the technological break-throughs have been huge and we can now sequence a new genome in less than a week. With the advent of ancient DNA study we can now recover and analyze the DNA sequences from extinct organisms and from people lived in the past. This work has inherent limitations related to the degradation that DNA molecules encounter after the death of an organism. Recently, the development of next-generation high-throughput sequencing technologies, has greatly expanded the scopes of paleogenetics allowing to decipher entire human ancient genomes. By comparing ancient and modern genomes we can piece together the movements and the relationships of past human populations and reconstruct our evolutionary history.
Keywords: Ancient DNA, Human genome, Human migrations, Human populations, Paleogenetics, Sequencing technologies.

  1. 1000 Genomes Project Consortium. Abecasis G.R. et al. (2012). An Integrated Map of Genetic Variation from 1.092 Human Genomes. Nature, 491, 7422: 56-65.
  2. Bersaglieri T. et al. (2004, June). Genetic Signatures of Strong Recent Positive Selection at the Lactase Gene. Am J Hum Genet, 74, 6: 1111-1120,, DOI: 10.1086/421051
  3. Chimpanzee Sequencing and Analysis Consortium. Initial Sequence of the Chimpanzee Genome and Comparison with the Human Genome (2005). Nature, 437, 7055: 69-87,
  4. Enattah N.S. et al. (2002). Identification of a Variant Associated with Adult-type Hypolactasia. Nat Genet, 30, 2: 233-237,
  5. Eriksson A. and Manica A. (2012). Effect of Ancient Population Structure on the Degree of Polymorphism Shared between Modern Human Populations and Ancient Hominins. Proc Natl Acad Sci U S A, 109, 35: 13956-13960,
  6. Fu Q. et al. (2016, May 2). The Genetic History of Ice Age Europe. Nature, 534, 7606: 200-205.
  7. Green R.E. et al. (2010). Draft Sequence of the Neandertal Genome. Science, 328, 5979: 710-722.
  8. International Human Genome Sequencing Consortium. Initial Sequencing and Analysis of the Human Genome (2001, Feb 15). Nature, 409, 6822: 860-921.
  9. Krause J. et al. (2007). The Derived FOXP2 Variant of Modern Humans Was Shared with Neandertals. Curr Biol, 17, 21: 1908-1912,
  10. Krings M. et al. (1997). Neandertal DNA Sequences and the Origin of Modern Humans. Cell., 90, 1: 19-30,
  11. Lazaridis I. et al. (2014). Ancient Human Genomes Suggest Three Ancestral Populations for Present-day Europeans, 513, 7518: 409-413.
  12. Lowery R.K. et al. (2013). Neanderthal and Denisova Genetic Affinities with Con-temporary Humans: Introgression versus Common Ancestral Polymorphisms. Gene, 530, 1: 83-94,
  13. Maricic T. et al. (2013). Recent Evolutionary Change Affects a Regulatory Element in the Human FOXP2 Gene. Mol Biol Evol, 30, 4: 844-852,
  14. Meyer M. et al. (2014). Mitochondrial Genome Sequence of a Hominin from Sima de los Huesos. Nature, 505, 7483: 403-406,
  15. Novembre J. et al. (2008). Genes Mirror Geography within Europe. Nature, 456, 7218: 98-101,
  16. Orlando L. et al. (2013). Recalibrating Equus Evolution Using the Genome Sequence of an Early Middle Pleistocene Horse. Nature, 499, 7456: 74-78.
  17. Perry G.H. et al.. (2007). Diet and the Evolution of Human Amylase Gene Copy Number Variation. Nat Genet, 39, 10: 1256-1260,
  18. Pinhasi R. et al. (2015). Optimal Ancient DNA Yields from the Inner Ear Part of the Human Petrous Bone. PLoS One, 10, 6: e0129102,
  19. Prüfer K. et al. (2014). The Complete Genome Sequence of a Neanderthal from the Altai Mountains. Nature, 505, 7481: 43-49.
  20. Reich D. (2010). Genetic History of an Archaic Hominin Group from Denisova Cave in Siberia. Nature, 468, 7327: 1053-1060.
  21. Reich D. et al. (2011). Denisova Admixture and the First Modern Muman Dispersals into Southeast Asia and Oceania. Am J Hum Genet, 89, 4: 516-528,
  22. Sankararaman S. et al. (2014). The Genomic Landscape of Neanderthal Ancestry in Present-day Humans. Nature, 507, 7492: 354-357,
  23. Skoglund P. and Reich D.A. (2016). Genomic View of the Peopling of the Americas. Curr Opin Genet Dev, 41: 27-35,, DOI: 10.1101/058966
  24. Tishkoff S.A. et al. (2007). Convergent Adaptation of Human Actase Persistence in Africa and Europe. Nat Genet, 39, 1: 31-40,
  25. Vernot B. and Akey J.M. (2014). Resurrecting Surviving Neandertal Lineages from Modern Human Genomes. Science, 343, 6174: 1017-1021,

Martina Lari, David Caramelli, in "PARADIGMI" 2/2017, pp. 113-122, DOI:10.3280/PARA2017-002008


FrancoAngeli is a member of Publishers International Linking Association a not for profit orgasnization wich runs the CrossRef service, enabing links to and from online scholarly content