Molecular anthropology, also known as genetic anthropology, is the study of how molecular biology has contributed to the understanding of human evolution. This field of anthropology examines evolutionary links between ancient and modern human populations, as well as between contemporary species. Generally, comparisons are made between sequences, either DNA or protein sequences; however, early studies used comparative serology.
By examining DNA sequences in different populations, scientists can determine the closeness of relationships between populations (or within populations). Certain similarities in genetic makeup let molecular anthropologists determine whether or not different groups of people belong to the same haplogroup, and thus if they share a common geographical origin. This is significant because it allows anthropologists to trace patterns of migration and settlement, which gives helpful insight as to how contemporary populations have formed and progressed over time.Kottak, Conrad Phillip. Windows on Humanity. New York: McGraw-Hill, 2005.
Molecular anthropology has been extremely useful in establishing the evolutionary tree of humans and other primates, including closely related species like chimps and gorillas. While there are clearly a number of morphological similarities between humans and chimpanzees, for example, certain studies also have concluded that there is roughly a 98 percent commonality between the DNA of both species. However, more recent studies have modified the commonality of 98 percent to a commonality of 94 percent, showing that the genetic gap between humans and chimps is larger than originally thought. Such information is useful in searching for common ancestors and coming to a better understanding of how humans evolved.
Haploid loci in molecular anthropology
There are two continuous linkage groups in humans that are carried by a single sex. The first is the Y chromosome, which is passed from father to son. Anatomical females carry a Y chromosome only rarely, as a result of genetic defect. The other linkage group is the mitochondrial DNA (mtDNA). MtDNA is almost always only passed to the next generation by females, but under highly exceptional circumstances mtDNA can be passed through males. The non-recombinant portion of the Y chromosome and the mtDNA, under normal circumstances, do not undergo productive recombination. Part of the Y chromosome can undergo recombination with the X chromosome and within ape history the boundary has changed. Such recombinant changes in the non-recombinant region of Y are extremely rare.
Mitochondrial DNA
Mitochondrial DNA became an area of research in phylogenetics in the late 1970s. Unlike genomic DNA, it offered advantages in that it did not undergo recombination. The process of recombination, if frequent enough, corrupts the ability to create parsimonious trees because of stretches of amino acid subsititions (SNPs). When looking between distantly related species, recombination is less of a problem since recombination between branches from common ancestors is prevented after true speciation occurs. When examining closely related species, or branching within species, recombination creates a large number of 'irrelevant SNPs' for cladistic analysis. MtDNA, through the process of organelle division, became clonal over time; very little, or often none, of that paternal mtDNA is passed. While recombination may occur in mtDNA, there is little risk that it will be passed to the next generation. As a result, mtDNA become clonal copies of each other, except when a new mutation arises. As a result, mtDNA does not have pitfalls of autosomal loci when studied in interbreeding groups. Another advantage of mtDNA is that the hyper-variable regions evolve quickly; this shows that certain regions of mitochondrial DNA approach neutrality. This allowed the use of mitochondrial DNA to determine that the relative age of the human population was small, having gone through a recent constriction at about 150,000 years ago (see #Causes of errors).
Mitochondrial DNA has also been used to verify the proximity of chimpanzees to humans relative to gorillas, and to verify the relationship of these three species relative to the orangutans.
More recently, the mtDNA genome has been used to estimate branching patterns in peoples around the world, such as when the new world was settled and how. The problem with these studies have been that they rely heavily on mutations in the coding region. Researchers have increasingly discovered that as humans moved from Africa's south-eastern regions, that more mutations accumulated in the coding region than expected, and in passage to the new world some groups are believed to have passed from the Asian tropics to Siberia to an ancient land region called Beringia and quickly migrated to South America. Many of the mtDNA have far more mutations and at rarely mutated coding sites relative to expectations of neutral mutations.
Mitochondrial DNA offers another advantage over autosomal DNA. There are generally 2 to 4 copies of each chromosome in each cell (1 to 2 from each parent chromosome). For mtDNA there can be dozens to hundreds in each cell. This increases the amount of each mtDNA loci by at least a magnitude. For ancient DNA, in which the DNA is highly degraded, the number of copies of DNA is helpful in extending and bridging short fragments together, and decreases the amount of bone extracted from highly valuable fossil/ancient remains. Unlike Y chromosome, both male and female remains carry mtDNA in roughly equal quantities.
Y chromosome
The Y chromosome is found in the nucleus of normal cells (nuclear DNA). Unlike mtDNA, it has mutations in the non-recombinant portion (NRY) of the chromosome spaced widely apart, so far apart that finding the mutations on new Y chromosomes is labor-intensive compared with mtDNA. A number of studies rely on tandem repeats; however, tandem repeats can expand and retract rapidly and in some predictable patterns. The Y chromosome only tracks male lines, and is not found in females, whereas mtDNA can be traced in males even though they fail to pass on mtDNA. In addition, it has been estimated that effective male populations in the prehistoric period were typically two females per male, and recent studies show that cultural hegemony plays a large role in the passage of Y. This has created discordance between males and females for the Time to the Most Recent Common Ancestor (TMRCA). The estimates for Y TMRCA range from 1/4 to less than 1/2 that of mtDNA TMRCA. It is unclear whether this is due to high male-to-female ratios in the past coupled with repeat migrations from Africa, as a result of mutational rate change, or as some have even proposed that females of the LCA between chimps and humans continued to pass DNA millions after males ceased to pass DNA. At present the best evidence suggests that in migration the male to female ratio in humans may have declined, causing a trimming of Y diversity on multiple occasions within and outside of Africa.
For short-range molecular phylogenetics and molecular clocking, the Y chromosome is highly effective and creates a second perspective. One argument that arose was that the Maori by mtDNA appear to have migrated from Eastern China or Taiwan, by Y chromosome from the Papua New Guinea region. When HLA haplotypes were used to evaluate the two hypotheses, it was uncovered that both were right, that the Maori were an admixed population. Such admixtures appear to be common in the human population and thus the use of a single haploid loci can give a biased perspective.
X-linked studies The X-chromosome is also a form of nuclear DNA. Since it is found as 1 copy in males and 2 non-identical chromosomes in females it has a ploidy of 1.5. However, in humans the effective ploidy is somewhat higher, ~1.7, as females in the breeding population have tended to outnumber males by 2:1 during a large portion of human prehistory. Like mtDNA, X-linked DNA tends to over emphasize female population history much more than male. There have been several studies of loci on X chromosome, in total 20 sites have been examined. These include PDHA1, PDHA1, Xq21.3, Xq13.3, Zfx, Fix, Il2rg, Plp, Gk, Ids, Alas2, Rrm2p4, AmeIX, Tnfsf5, Licam, and Msn. The time to most recent common ancestor (TMRCA) ranges from fixed to ~1.8 million years, with a median around 700ky. These studies roughly plot to the expected fixation distribution of alleles, given linkage disequilibrium between adjacent sites. For some alleles the point of origin is elusive, for others, the point of origin points toward Sub-Saharan Africa. There are some distinctions within SSA that suggest a smaller region, but there is not adequate enough sample size and coverage to define a place of most recent common ancestor. The TMRCA is consistent with and extends the bottleneck implied by mtDNA, confidently to about 500,000 years.
Autosomal loci
Rate variation
Ancient DNA sequencing Krings Neandertal mtDNA have been sequenced, and sequence similarity indicates an equally recent origin from a small population on the Neanderthal branch of late hominids. The MCR1 gene has also been sequenced but the results are controversial, with one study claiming that contamination issues cannot be resolved from human Neandertal similarities. Critically, however, no DNA sequence has been obtained from Homo erectus, Homo floresiensis, or any of the other late hominids. Some of the ancient sequences obtained have highly probable errors, and proper control to avoid contamination.
Causes of errors The molecular phylogenetics is based on quantification substitutions and then comparing sequence with other species, there are several points in the process which create errors. The first and greatest challenge is finding "anchors" that allow the research to calibrate the system. In this example, there are 10 mutations between chimpanzee and humans, but the researcher has no known fossils that are agreeably ancestral to both but not ancestral to the next species in the tree, gorilla. However, there are fossils believed to be ancestral to orangutans and humans, from about 14 million years ago. So that the researcher can use orangutan and human comparison and comes up with a difference of 24. Using this he can estimate (24/(14*2, the "2" is for the length of the branch to human (14my) and the branch to orangutan (14 my) from their last common ancestor (LCA). The mutation rate at 0.857 for a stretch of sequence. Mutation rates are given, however, as rate per nucleotide(nt)-site, so if the sequence were say 100 nt in length that rate would be 0.00857/nt per million years. Ten mutations*100nt/(0.00857*2) = 5.8 million years.
Problem of calibration