Abstract
Since Darwin, we understand the process that generates biological diversity, including human diversity, as a genealogical tree that relates all individuals and all species. Within this framework of analysis, and by comparing genomes at different scales (between individuals of the same or different populations or species) we can reconstruct this process, that is, we can know the history of humans as a species or as a group of populations. We will see how, beyond the present moment, the analysis of ancient DNA has allowed a diachronic perspective in which we no longer see only the tips of the branches, but the entire branches. We will illustrate this perspective with the vertical and horizontal relationships between humans, Neanderthals and Denisovans (and other hominins that may have contributed to our current genomes). Within our species, we will give examples from the deepest history, such as the African origin of humanity, but also from more recent history, such as the reconstruction of the Roma diaspora.
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Notes
- 1.
Obviously, there is a blatant exception in horizontal gene transfer, which can occur at many scales, between distant species such as bacteria, or in situations that can make us rethink the very frame of reference of what we consider different species, as in the case of the introgression of archaic humans, which we will discuss in this chapter.
- 2.
Which is not the same as the mutation rate, since there may have been parallel mutations, or backmutations, that do not provide observable changes when comparing two species.
- 3.
We use here genomes in the sense of partially characterized human genome sequences, either by sequencing at low coverage or by capturing thousands of SNPs across the entire genome.
- 4.
In fact, introgression makes the very concept of species more vague and imprecise.
- 5.
Svante Pääbo, who led this research, prefers not to speak of a species but of a "group of hominins."
- 6.
As we mentioned at the beginning of this article, the adaptive events that also leave traces in the genome are dealt with in the work of Elena Bosch in this monograph.
- 7.
This departure of our species from Africa is known as Out of Africa (OOA) in reference to the novel of the same name published in 1937 by the Danish writer Karen Blixen. A good review of the genetic data confirming this Out of Africa of humans can be found in (Henn et al. 2012). See also the current state of the subject in the chapter by María Martinón in this book.
- 8.
There are no precise statistics on the number of Roma in Europe, and approximations point to a population of around 10 million.
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Comas, D., Calafell, F. (2022). Human Evolution: The Genomic Evidence. In: Bertranpetit, J., Peretó, J. (eds) Illuminating Human Evolution: 150 Years after Darwin. Evolutionary Studies. Springer, Singapore. https://doi.org/10.1007/978-981-19-3246-5_9
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