Anthropology Notes PDF
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Summary
These notes cover various aspects of genetics. They explain concepts like the blending theory, the role of genes, dominant/recessive traits, and the structure of DNA. The notes also discuss mutations, evolution, and the human genome.
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Blending theory of inheritance Gregor Mendel (1822 - 1884) Breeding experiments on strains of peas which were pure for 7 different discreet combinations 28,000 plants; 400,000 seeds ROUND + WRINKLED (pure) = All ROUND (self-...
Blending theory of inheritance Gregor Mendel (1822 - 1884) Breeding experiments on strains of peas which were pure for 7 different discreet combinations 28,000 plants; 400,000 seeds ROUND + WRINKLED (pure) = All ROUND (self- fertalized) 3/4 ROUND, ¼ WRINKLED NO blending There are physical units of inheritance that maintain their identity when passed form parents to offspring (genes) Dominant, recessive ( codominance) Locus: physical location of genes Alleles: different forms of the same gene Homozygote( pair of same allele) , heterozygote ( pair of different alleles) Genotype ( specific combination of allele), phenotype ( gene= morphological result of alle combination) Monogenic trait= determined by one gene; such traits are discrete Polygenic trait= inflcluenced by multiple genes; such traits are continuous polymorphism = existence of 2 or more alles at a locus and thus 2 or more genotypes at that locus Chromosomes ○ Containers of DNa ○ 23 pairs of chromosomes( 1 from each parent) in each human cell= 46 total ○ Meiosis= cell division in gemr cells producsinh gamhetes( egg cell, sperm); sperm + egg cell -> zygote ○ mitosis= cell dicision in all other cells DNA ○ Humans= 21,000 genes Produces at least 100,000 proteins= a primary function of genes. = 2-3% of all DNA directly and consistently involved in protein production DNA without a clear purpose used to be called junk DNA but is now understood as the location of regulatory genes ○ Only 25% of dna is considered junk dna Noncoding RNA Epignetics ○ Changes in Dna structure that dont involve changes in base sequence ○ Methylation ○ Response to stressfull environment ○ Can affect expression ofn at least some genes; e.g. regulatory ○ At least some are transmitted to offspring Exons (coding), introns (non-coding) Second category: regulatory genes Multiple operating but in different possible combinations enhancers , silencers Homeobox= Hox genes ○ Codon= 3 consecutive bases= smallest genetic unit of functional information Each codon codes for a specific amino acid = units which make up protiens; I.e codon sequencwe deterimines amino acid sequence -> protien structure-> protien function One gene- one protein model ○ Located in chromosomes in nucleus of all cells ○ Double helix; backbone =phosphate + sugar= deoxorhybose ○ rungs= pairs of bases Adenine + thymine Cytosine + Guanine Evolution= change in the frequency of alles in a breeding population from generation to generation ○ Forces of evolution Mutation Ulitimate source of all new genetic variation = change in the seuqence of DNA bases Meiosis spontaneous mutation rate; mutagens Occurrence of mutations is random Mutations rare Once believed that almost all mutations in current species were deleterious= decreased probability of survival gel electrophoresis: detects differences between individuals in the amino acid dequence of the same protein; indirect assessment of genotype About 25-30% of all protein-producing loci are polymorphic in a wide variety of species Explanation: natural selection is not operating; i.e, one for, of the protein is not more efficient than another Neutral mutation: changes in codon sequence which are neither advantageous nor deleterious Now appears that neutral mutations are not as prevalent as once thought Drosophila ○ Appears 20% of junk actually being acted uponby natural selectionction at very low intensity ○ Only 5% appears to be neutral Evelitionary importance of neutral mutations* ○ Increases the importance of drift ○ May provide an advantage in the future 13 rabbits introduced into australia in 1859; 600 million by 1940 ○ Myxamatosis virus introduced to curtail population. ○ Virgin population not exposed to virus ○ Rabbits possessing neutral mutations more likely to survive; virus also became less virulent Gene flow Movement of individuals from one breeding population to another Mate exchange Effects on genetic variation ○ Increased genetic diversity within breeding population ○ Decreased genetic difference between breeding populations Natural selection Must be a stress resulting in differential mortality; often this involves relatively small differences between groups of individuals in probability of survival Individuals who are best able to cope with the stresses of their enviroment Types ○ Directional Polygenic trait: Peter and Rosemary Grant: medium ground finch in galapagos ○ Much larger Variability in beak size compared to other finches 1976: birds tagged and weighed; 5 inches of rain (normal) 1977: 1 inch of rain: no breeding and 85% of medium ground finches died 1978: back to 5 inches of rain ○ Suvival not random; larger birds more likely( no guarantees) to survive Plants prodicing large seeds tend to live in low-lying areas where there is greater access to ground water and more likely to survive then plants producing small seeds which tend to live in high lying areas Increase in seed size = increase in seed toughness ○ Process: Larger birds have larger and stronger beaks Superior biological design for this specific environment Better adapted Larger average body size next generation ○ What happemded with return to normal levels of rainfall Gradual decrease in average body size until 1983 ○ El nino: 8 months of rain -> flooding ○ Small seeds are consumed more effectively by sma,l birds which increases chance of survival and decreases body size ○ Enviromemts sometimes remain fairely constant on average over long periods of time but there can still be considerable environmental fluctuation over a short period of time which can result insubstantialgenetic chnage Monogenic trait (discrete phenotype): Peppered moth; 1848: color dterminee by 1 locus= monogenic; 1% black, 99% mottled gray; loght colored lichen on tree trunks Industrial revolution: dark moths had a 15% greater chance of survival 1898:> 98% were black Clean air act pattern reversed ○ Stabalizing selection Monogenic traits: (discrete phenotype)= balanced polymorphism Heterzygote is better adapted than both homozygotes As a result, both alleles are maintained in the populations at some stable rate, depending on magnitude of difference eon probability of survival Polygenic trait: (continous phenotype) individuals with average phenotypic traits have increased probability of survival Sickle cell anemia ○ About.27% of americans of african ancestry have SCA = 100,000 individuals at any one time ○ About 8.3% are herterozygotes ○ Frequency of S allele is 20 - 30 times greater in some parts of western and central african populations than in the US ○ High frequency of S allele is proportional to highfrequnecy of S allele ○ Conclusion: bothAA and AS are both better adapted than SS individuals in every environment but AS are better adapted in an environment with endemic falciparium malaria= balanced polymorphism ○ Hunter and gatherers propr to 1500-2000 before present: small populations, mobile -> minimal if any malaria until Bantu horticulterists: -sedentary - large population size. -Cassava and yam farming -using iron tools - Slash and burn -abandoned field -thatched roofs ○ Genotype involved in producing Hb: AA= normal produced AS= sickle cell trait SS- sickle cell anemia ○ Plasmodium falciparium ○ Life cycle involves humans and anopheles mosquitos ○ Etiology of SCA: Mosquito bites human in correct phase of parasite life cycle -> Blood stream -> Liver -> Blood -> Red blood cells where uncontrolled reproduction takes place Bursts RBC Transfered back to mosquitos ○ Found primarily in people of west african descent Effects of low oxygen pressure on hb/rbc: decreased ability to load oxygen at the lungs and decreased amount of oxygen which is released to tissues. Descrsed lifenspan. Decreased* Change in1 out of 438 bases-> change in 1 out of 146 amino acids in beta chain of hemoglobin Codominance Suppose there are two alleles ( A and s) at a locus ○ Disruptive Monogenic trait: both homozygotes are fitter than the heterozygotes Extremes fitter than the middle value enviroment as a result of their supeoror biological design ○ Higher chance of survival ○ Higher chance of reproducing then the less well adapted ○ Greater representation in the next generation. ○ Fitness Number of offspring that survive to reproductive age Fitness vs adaptedness Drift ○ Microevolution: evolution over a period of time we can observe Population genetics Synthetic theory of evolution Hardy-Weinberg Theorem ○ Macroevolution: evolution over a long period of time we can not observe ○ Ge(4pi^2/GM)rne pool ○ Suppose population= 50 AA and 50 BO at ABO locus Total alles= ? 200 A alles = 50 * 2 = 100/ 200 = 0.5 alle frequency B alles = 50 * 1= 50/200=0.25 alle frequency O alele = 50 * 1= 50/200=0.25 alle frequency ○ Breeding population Primary unit of evolution