In the image to the left you see three human males. You can generate three pairings of these individuals. When comparing these pairs which would you presume are more closely related than the other pairs? Now let me give you some more information. The rightmost image is of the president of Tanzania. The middle image is of the president of Taiwan (Republic of China). And finally, the leftmost image is of the prime minister of Papua New Guinea. With this information you should now know with certainty that the prime minister of Papua New Guinea and the president of Taiwan are much more closely related than either are to the president of Tanzania. But some of you may not have guessed that initially. Why? I suspect that physical inspection may have misled you. One of the most salient visible human characteristics is of the complexion of our largest organ, the skin. Its prominence naturally leads many to mistakenly infer relationships where they do not exist.
This was certainly an issue when European explorers encountered the peoples of Melanesia. An older term for Melanesians is “Oceanic Negro,” and some sources suggest that the Spaniards who named the island New Guinea did so with an eye to the old Guinea on the coast of West Africa. To the left is an unrooted tree which illustrates the relationships between Papuans, Bantu from Kenya, and Han Chinese. Since the font is small I’ve underlined the focal populations in red. Africans are always the “outgroup” to any two non-African populations. This is a robust pattern whenever you look at averaged total genome phylogenies. In other words, when you don’t privilege particular genes in a phylogeny humanity can be divided into African and non-African branches.
Natural selection happens. It was hypothesized in copious detail by Charles Darwin, and has been confirmed in the laboratory, through observation, and also by inference via the methods of modern genomics. But science is more than broad brushes. We need to drill-down to a more fine-grained level to understand the dynamics with precision and detail, and so generate novel inferences which may then be tested. For example, there are various flavors of natural selection: stabilizing selection, negative selection, and positive directional selection. In the first case natural selection buffets the phenotype about an ideal mean, in the second case deleterious phenotypes and their associated alleles are purged from the genome, and finally, natural selection can also drive a novel trait toward greater prominence, and concomitantly the allelic variants which are associated with the fitter phenotype.
The last case is of particular interest to many because it is often with positive natural selection by which evolution as descent with modification occurs. Over time trait values and the nature of traits themselves shift such that a lineage changes its character beyond recognition. This phyletic gradualism and the scale independence of evolutionary process has been challenged, in particular from the domain of developmental biology (albeit, not all ,or even most, developmental biologists). But ultimately no one doubts that a classical understanding of evolution as change in allele frequency, often driven by natural selection, is part of the larger puzzle of how the tree of life came to be.
One of the phenomena associated with positive directional evolution is the selective sweep. How a selective sweep occurs, and its consequences, are rather straightforward. A genome consists of a sequence of base pairs (e.g., we have 3 billion base pairs). If a new mutation emerges at a particular base pair, a novel single nucelotide polymorphism (SNP), and, that allelic variant is ~10% fitter than the ancestral variant, natural selection could drive up its frequency (the conditionality is due to the fact that in all likelihood it would still go extinct because of the power of stochastic forces when a mutant is at low frequency). So the variant could in theory shift from ~0% (1 out of N, N being the number of individuals in a population, 2N if diploid, and so forth) to ~100%. This would be the fixation of the novel variant, driven by selective dynamics. So what’s the sweep aspect? The sweep in this case refers to the effect of the very rapid rise in frequency of the SNP in question on the adjacent genomic region. What is termed a genetic hitchiking dynamic results if the sweep occurs rapidly, so that nearby regions of the genome also move to fixation along with the favored SNP. But in a diploid organism with sexual reproduction genetic recombination persistently breaks apart associations across the physical genome. Therefore the span of the sequence of genetic markers nearby a favored SNP which form a haplotype is dependent on the rate of recombination as well as the rate of the rise in frequency of the allele, which is contingent on the strength of selection. A powerful selective sweep has the effect of homogenizing wide regions of the genome flanking the favored mutant; in other words the sweep “cleans” the gene pool of variation as one very long haplotype replaces many shorter haplotypes. As an example, in the genomes of Northern Europeans the locus LCT is characterized by a very long haplotype, which itself seems to correlate well with the trait of lactase persistence. The implication here is that the lactase persistence conferring variant arose relatively recently, and was swept up to near fixation by positive directional natural selection.