Exam 3 Study Guide (29 Oct. - 21 Nov.) PDF

Exam 3 Study Guide 29 Oct. – 21 Nov. Adapta on to al tude:...

Exam 3 Study Guide 29 Oct. – 21 Nov. Adapta on to al tude: The anatomy of respira on Moderate vs high vs extreme eleva ons, where in the world do people live at high al tudes Hypoxia o De ni on o Morphological adapta ons – lung, chest size o Physiological adapta on – red blood cells, etc. o Gene c adapta on – HIF pathway, introgression, etc. o How do di erent high-al tude popula ons compare in their adapta ons? Acclima za on – o What is the general process o Acclima za on v. adapta on o Developmental plas city at high al tude Adapta on to Disease: o Endemic vs. Epidemic o Morbidity vs. Mortality o Agent of selec on and major role in human distribu on Diet and Disease through pre-history and history o Pleistocene Hunter-gatherers ▪ Popula on size, interbirth intervals, pathogens, and mobility o Neolithic revolu on – rst epidemiological transi on ▪ Rise of seden sm, increased popula on density, shorter interbirth interval ▪ Pathogen reservoirs ▪ Irriga on and water storage as pathogen vector ▪ E ects on dietary diversity— ▪ Evidence of trauma— o Evidence of episodic dietary stress in hunter-gatherers & early agriculture o Urban Revolu on – formal criteria of urban civiliza on based on size, wealth, complexity ▪ E ects of popula on density on pathogen spread ▪ Popula on growth pa erns ▪ Rise of new diseases Pan-Old World epidemics— E ects of Colonialism— o Second epidemiological transi on – 19th-20th centuries ▪ Sanita on, quaran ne, and vaccines emerge as strategies for public health o Third epidemiological transi on— happening now? ▪ New diseases, disease resurgence, drug resistance, globaliza on, climate change o Adapta on examples o Development of farming, increase of malaria, sickle cell and other red blood cell muta ons ff ff ff fi ti ti ti ti ti ti ti ti ti ti ti ff ti ti ti ti ti ti ti ti ti ti ti ti tt ti fi ti ti ti ti ti ti ti ti ti ti ti ti ti ti ti ti  ▪ What is the similarity between adapta on to malaria and sleeping sickness for the pa erns of selec on and disease suscep bility o What evidence is there for adapta on to the plague in Europe? ▪ CCR5 ▪ ERAPs Dietary adapta ons: o How do dietary adapta ons connect to major evolu onary transi ons (e.g. Neolithic/agriculture)? o Lactase persistence- archaeological evidence, gene c evidence, and how is the discrepancy in ming of lactase persistence between archaeological and gene c evidence explained o Evidence of convergent evolu on between popula ons? o Found in what popula ons? o Cultural adapta ons to consume milk o Starch and salivary amylase in humans and dogs o MGAM associated with an intes ne enzyme for diges ng starch o SLC22A4 associated an amino acid that protects against oxida ve stress o Fat metabolism and cold: o FADS: synthesize long chain fa y acids, like omega-3s o CPT1A: deals with ge ng fa y acids to mitochondria for energy produc on o Similarly selected for metabolism? o Adapta on to Ingested Environmental Toxins: o Arsenic Race What criteria need to be met to de ne races, and how do humans t those or not? Gene cs: humans share vast majority of our DNA with 99.9% in common with gene c o Di erences comprise a small frac on of genome o Most observed varia on is between individuals within groups, not between groups o Boundaries? ▪ No human popula on is discrete, isolated, or xed ▪ People have always been on the move at some scale o Gene c variants not distributed in a way that corresponds with socially-assigned races (or con nental groups) o Gene c varia on is clinal Biological subdivisions: species, subspecies, popula ons o Species o De ni on o Example in chimpanzees Subspecies: o De ni on o How to de ne subspecies o 85% of the total gene c varia on in humans is found, on average, within any given popula on o 15% re ects di erences between popula ons o How do humans compare to the subspecies de ni on of race? ff tt fi fi ti ti ti ti ti ti fl ti fi ti ff ti ti ti ti ti tti ti ti ti tt ti ti tt ti ti ti fi ti ti ti fi fi ti ti ti ti ti ti ti ti ti fi ti ti ti ti  Popula ons: subset group of individuals within a species that encounter each other and may be poten al mates How does social concept of race a ect people’s health and why Race vs. ancestry Dietary adapta ons (Nov. 19): Microbiome (gut) o What broad types of organisms/microbes are included in the microbiome? o How does having a microbial ecosystem within our gut bene t us, genomically and func onally? o How does the human gut microbiome exhibit varia on within individuals, between individuals and between popula ons? o What evidence do we have that we have closely co-evolved with our gut microbial taxa, and why might we have become so dependent on them? o Be able to discuss how and why human gut microbiomes di er based on whether they have lactase persistence or not. o Be able to discuss how and why human gut microbiomes di er based on whether they have higher or lower AMY1 gene copy number. Ancestry (Nov. 26) o Be able to dis nguish race vs. ancestry o What type of genomic data are used in ancestry tes ng? What por on of the genome do ancestry tests examine? o How do they determine ancestry? Be able to iden fy and explain the sources of error and limita ons of gene c ancestry tes ng. o What is the signi cance of the number and loca on of SNPs they include? o What is the signi cance of the reference popula ons they have? o How does frequency distribu on and probability a ect results? o Be able to explain reasons why ancestry results could di er for the same individual between companies or between tes ng me points (i.e., tes ng in di erent years), or between siblings o How does recombina on a ect how ancestry tes ng is conducted? How does admixture and recombina on a ect what types of ancestry are represented in a person’s genome compared to their family histories. o Why or why not is taking an ancestry test valid to prove family history and member to a par cular group? o How can ancestry results reinforce people’s ideas about biological di erences among racial groups, despite there being no di erences? ti ti ti ti ti ti ti ti ff fi fi ti ti ti ff ff ti ff ti ti ti ff ti ti ff ti ti ff ff ff fi ti ff ti ti ti