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Human Evolution and Genetic Diversity Insights

human evolution notes

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0% found this document useful (0 votes)
4 views4 pages

Human Evolution and Genetic Diversity Insights

human evolution notes

Uploaded by

ldthomas33
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

Class 9/14

Terms: phylogeny, taxonomy, DKPCOFGS, Hominin, Derived Traits, Cladogenesis, Anagenesis,


Parsimony, Alfred Russell Wallace

In other doc

Class 9/16

Terms: Molecular clock, Primitive vs derived traits, Serial founder effect, Ancient DNA

Continued from last class

➢ Parsimony - prefer the simplest explanation


➢ General rule - favor the tree with fewest evolutionary changes
➢ Primitive traits - those inherited unchanged from a common ancestor (not very helpful for
grouping species; ex. Having hair
➢ Derived traits - those that have changed from the ancestral condition (much more helpful
for grouping species)
➢ Molecular clock - steady, clock-like accumulation of DNA differences
○ Initial population - AGTCCCT
○ Mutations accumulate over time
○ End up with 2 (or more) populations with different genetics
➢ Lots of arguments and debate over time about consensus view of human relationship to
apes
➢ Advances in DNA sequencing in 1990’s allow us to make DNA phylogenies
➢ Now we know humans are most closely related to chimps and bonobos
➢ Chimps are more closely related to humans than gorillas


➢ Humans have 46 chromosomes while other apes have 48, due to fused chromosome 2 in
humans, we say apes have pairs 2A and 2B
➢ Hominin branch, goes from human-chimp LCA to humans, all of those are hominins
○ Goes from early hominins to australopithecus to homo
➢ Multiregional hypothesis - ancient population divergence, europeans, asians, africans, etc.
➢ From study, observed SMALL differences between groups
➢ Correct model: all humans have African origin (“Out of Africa” replacement model)
➢ Replacement model - little to no genetic contribution from neanderthals or homo erectus
➢ Humans (homo sapiens) originated in Africa ~300k years ago, spread across world
beginning ~100k years ago, ran into neanderthals and others as we went
➢ Early ancient DNA work confirms: neanderthals are not our ancestors
➢ Evidence also confirms there was some interbreeding between neanderthals and certain
human groups
➢ Updated model for homo sapiens origins: recent african origin and replacement, with a
small amount of interbreeding (“admixture”) with other hominins
➢ Humans interbred with at least two other species: neanderthals and denisovans (fossil
DNA evidence supports this), and likely others
➢ Serial Founder Effect - genetic diversity decreases with distance from Africa, reflecting
our roots and expansion
➢ Populations across the globe are very genetically similar
○ 90% of all human alleles can be found within any single population
➢ No biological “races”, variation is continuous, not categorical
➢ Race is a cultural construct, not a biological reality
➢ Chimp populations are more genetically distinct from one another than human
populations are
➢ Today, population DNA differences reflect migration: geographic distance = genetic
difference, but differences are very small
➢ Most population differences are due to drift and mutation
○ Skull shape is an example
➢ Gene flow acts counter to drift and mutation, keeping populations similar
➢ A small amount of human global variation been shaped by natural selection - local
adaptations to local conditions

Class 9/21

➢ Population structure reflects migrations out of Africa, all one continuous gene pool not
separate races
➢ Gene flow makes populations more alike
➢ Drift and mutation makes populations different
➢ Local adaptations - ex. skin color and UV radiation (more near equator)
○ UVR is necessary for production of vitamin D
○ Dangerous at high levels: destroys folate, impairs DNA synthesis
➢ Melanin, the pigment that makes skin darker, is a natural sunblock
○ Skin color is determined by how much melanin your skin cells make
➢ Local adaptations - altitude
○ Independently evolved adaptations to thin air
○ Tibetan, andean, and ethiopian plateau are examples
○ Increased hemoglobin concentration in blood in Andean pop., increased resting
ventilation in Tibetan pop.
➢ Lactase Persistence - cultures that depend on milk for food (dairy farming) have evolved
the ability to digest milk as adults
○ Northern europe and east Africa
➢ Arsenic Detoxification
○ Water in the Atacama Desert in Chile naturally has high levels of arsenic
○ Populations has high frequency of an allele that clears arsenic from the body
➢ Larger Spleens
○ The Bajau “sea nomad” population in South Pacific lives largely at sea, adults
dive for food
○ Selection for larger spleens, which hold and release oxygenated red blood cells
when diving
➢ Malaria Resistance
○ Simple farming methods can increase mosquito habitat
○ Many independently evolved adaptations for malaria resistance worldwide
○ Culture can affect biology
○ Used DDT to kill mosquitos, they evolved to survive it, then multiple other drugs
➢ What does DNA tell us about our identity?
○ Tiny genetic differences (due to drift and mutation) reflect recent population
structure
➢ Interbreeding and gene flow are powerful forces in the human species
○ There are no pure populations, we are all from one big mixed gene pool
➢ Ancient DNA from archaeological sites is changing what we know about ancestry
➢ Major, past human migrations documented from ancient DNA from over 20k years ago to
now
➢ Evolution in the public sphere (misuse, mistrust, and misunderstanding)
○ Progress: mistaken belief that evolution produces progress, and that Humans
(some types) are best
○ Eugenics: using evolution to justify racist and anti-poor policies
■ Developed by Francis Galton 1860s-70s
■ US has forced sterilization programs, marriage laws against mixed race
couples, immigration laws 1890s-1978
■ Buck v Bell 1927 ruled forced sterilization is legal
■ Germany Nazism 1920s-40s, Holocaust
■ Over 60k forced sterilizations in US in 1900s, predominantly affected
minority populations, still allegations in 2020
■ Now using Polygenic Risk Scores to choose embryos
○ Religion:
■ Science and religion are not fundamentally opposed, plenty of religious
scientists and science-accepting religions
■ But, science requires a skeptical, questioning, testing worldview that is
incompatible with some forms of religious belief
■ Example - young earth creationism
■ Noah’s Ark example: boat not big enough for all animals
○ Creationism is just one example of an Anti-Science movement

Common questions

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Gene flow, the transfer of genetic variation from one population to another, acts to homogenize genetic differences among populations. It counters the effects of genetic drift, where allele frequencies change randomly, and mutation, which introduces new genetic variation, by constantly introducing new alleles into a population. This process helps maintain genetic similarity among human populations, offsetting divergence caused by drift and localized changes due to mutation .

Ancient DNA analysis has revolutionized our understanding of human ancestry by providing direct genetic evidence of past migrations and interactions among different hominin species. For instance, it has confirmed interbreeding between Neanderthals and modern humans and revealed previously unknown populations like the Denisovans. This genetic data allows for more accurate reconstructions of human migration patterns and ancestries, challenging older models like the multiregional hypothesis and supporting the "Out of Africa" replacement model .

In evolutionary biology, primitive traits are features inherited unchanged from a common ancestor, while derived traits are those that have evolved from the ancestral state. Derived traits are more significant for grouping species because they indicate evolutionary changes and adaptations that reflect the organisms' phylogeny, thus allowing scientists to establish more accurate cladograms and evolutionary relationships .

The idea that race is a cultural construct with no biological basis implies that racial categories used socially are not supported by genetic differences. Human genetic variation is continuous, not categorical, meaning that greater genetic diversity exists within so-called racial groups than between them. This understanding deconstructs racial stereotypes and emphasizes shared genetic heritage, reinforcing that social constructs based on race do not reflect true biological differences .

Advancements in DNA sequencing technology since the 1990s have greatly enhanced our understanding of phylogenetic relationships by allowing detailed comparisons of genetic material across different hominin species. These technologies have clarified relationships between humans and other great apes, confirming the close ties between humans, chimpanzees, and bonobos. The genetic evidence also refines our understanding of evolutionary timelines and ancestral hominin branches, such as the distinction between early hominins and more recent species like Homo sapiens .

Convergent evolution occurs when similar traits evolve independently in separate lineages, often due to similar environmental pressures. Lactase persistence is a prime example, where independent mutations allowing adults to digest lactose appeared in European and East African populations. In both regions, the trait conferred advantages due to dairy farming, illustrating how cultural practices can drive parallel evolutionary responses in different human populations .

The "Serial Founder Effect" refers to the reduction in genetic diversity that occurs when a new population is established by a small number of individuals from a larger population. As humans migrated out of Africa, each subsequent population carried only a subset of the genetic variation present in the parent population, leading to decreased genetic diversity with increasing distance from Africa. This concept explains why human populations worldwide are genetically similar and why the greatest diversity is found in Africa, where humans originated .

Local adaptations are changes in genetic traits that confer an advantage in specific environmental conditions. For example, darker skin with more melanin evolved near the equator to protect against UV radiation, which is necessary for vitamin D production but can destroy folate at high levels. Elevated hemoglobin concentrations evolved in Andean populations to adapt to low oxygen levels at high altitudes, while the Tibetan population adapted by increasing resting ventilation. Such adaptations show how cultures and environments shape human genetic evolution .

The misuse of evolutionary science underpinned pseudoscientific movements like eugenics, which misapplied biological concepts of "survival of the fittest" to justify racist and oppressive policies. Initiatives like forced sterilization programs and laws against interracial marriage were falsely rationalized as "improving" human genetics. This demonstrates the danger of misinterpreting scientific findings for ideological ends, driven by prejudice rather than genuine understanding, fostering discrimination and human rights violations .

The "Out of Africa" model posits that all modern humans originated in Africa and later spread across the world, replacing other hominin populations like Neanderthals, with little to no genetic contribution from these extinct groups. This model is supported by genetic evidence showing that all humans have African origins approximately 300,000 years ago and left Africa about 100,000 years ago. Additionally, genetic studies reveal small differences among human populations worldwide, supporting the idea of a recent common origin .

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