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Genetics

Basics of DNA

  • Types of DNA
    • Nuclear DNA
      • In the Nucleus
      • Makes up chromosomes
      • Complete set in the genome
    • Mitochondrial DNA
      • In the mitochondira
      • Inherited from the mother
  • DNA structure
    • Double helix
    • Sugar and phosphate “rails”
    • Nucleotide base “rungs”
      • Aclenin and Thymine
      • Cytosine and Guanine
    • During cell division, nuclear DNA is tightly coiled into structures called chromosomes
  • Chromosomes
    • Locus
    • Homologous pairs
    • Karyotype
    • Autosomes
    • Sex Chromosomes
  • Discrete Trait - Present or Not
  • Continuous Trait - Variation based on multiple factors
  • Cline: Gradual distribution of traits over generations
  • Carrier rate: number of heterozygotes in a population

Process of Inheritance

  • 2 main goals of DNA
    • Replication
      • DNA unzips to form a template
      • Free-floating nucleotides join up to the template strand
      • Mitosis
        • For growth andrepair of cells
        • 2 identical diploid cells with 46 chromosomes each
      • Meiosis
        • Produces haploidgametes
        • Results in unique daughter cells due too Crossover and Recombination
        • Each new cell has 23 chromosomes
      • Gene linkage –based on location on the chromosome
      • Haplotypes –alleles likely to be inherited together based on the strength of their linkage
    • Protein synthesis
      • Transcription–mRNA copies a gene that codes for a particular protein
      • Translation–mRNA binds to a ribosome which translates the ‘code’and attaches amino acids together to form a polypeptide chain.Completed chain = protein
  • Types of genes
    • Structural
    • Regulatory
    • Homeobox
  • Inheritance
    • Gregor Mendel (1822-1884)
      • Basic principles of genetics via pea experiment
      • P1, F1, F2 generations illustrating the principles of alleles
        • Alleles: dominant vs. recessive
        • Phenotype vs. genotype
      • Law of independent assortment
      • Law of segregation
      • Homozygous genotype
      • Heterozygous genotype
      • Qualitative traits: 1 gene, 2 alleles, trait has 2 forms
        • Conditions that generally follow Mendelian patterns
          • Autosomal
            • Recessive
            • Dominant
          • Sex linked
          • Co-dominance
          • Incomplete dominance
      • Quantitative traits
        • Most observable traits are polygenicand are influenced by the environment
        • Polygenic traits
          • Pleiotropy
          • Heritability
            • Heritability quotient & range of values
          • Examples of qualitative traits: height, etc

Genetic basis of variation

  • Variation = Inheritance + Environment
  • Prokaryote (single) vs. Eukaryote (multiple)
  • Somatic cells (body) vs. Gametes (sex)
  • To understand human variation
    • The chemistry of genes
    • The process of inheritence
    • Genetics at teh population level

Population Genetics

  • Introductory concepts
    • Units of measure
      • Deme
      • Gene pool
      • Population vs. Species
    • Modes of speciation
      • Cladogenesis
      • Anagenesis
  • Forces of Evolution
    • Mutation
      • Only new source of variation
      • Increases variation in populations
      • Results on the success of the outcome vary
      • Point mutations
      • Chromosomal mutations & examples
      • ncreases population variatio
    • Natural Selection
      • Defining fitness
        • Probability of survival and reproduction of an organism
        • Fitness is higher for those who survive and reproduce
        • Selection acts first on viability, then on fertility
        • Selection reduces variation by selecting against variants that are not fit
      • Cases of natural selection
        • On mendelian traits
          • Against recessive homozygote
          • For recessive homozygote
          • For heterozygote
        • On complex trait
          • Stabilizing selection
          • Directional selection
          • Sexual selection
      • Decreases population variation
    • Genetic Drift
      • Random changes in allele frequency
      • Reduces within population diversity
      • Increases between population variation
      • Greater impact on small, isolated populations
      • 2 special cases: Founder’s effect; Population bottleneck
      • Decreases population variation
    • Gene Flow
      • One way gene flow
      • Two way gene flow: reciprocal, admixture

Human Variation and Adaptation

Models of human variation

  • Typological model
    • Problems: criteria for classification?
    • Continuity of human variation
    • Discordant variation
  • Population model
    • Problems: lack of reproductive isolation in humans
  • Clinal model
    • Geographic distribution of trait frequency
    • Takes into account the continuous nature of human variation
    • Example: ABO blood group polymorphisms
    • Reasons for global distribution
      • Gene flow
      • Founder effects
      • Balancing selection
    • Sickle cell trait: combining the forces of evolution to explain distribution

Human Adaptation

  • Stress: interferes with normal limits of the operation of an organism
  • Homeostasis: maintenance of the normal limits of body functioning
  • Types of adaptation
    • Cultural
    • Physiological
      • Acclimatization
      • Adaptation
      • Bioplasticity
      • Example: Skin color
        • Distribution in indigenous populations follows exposure to UV radiation
        • Adaptation to many factors for both dark and light skin
        • Continuity in distribution leaves no room for typology
      • Genetic
        • Example of Bajau fisherman –complex interaction between three types of adaptation

Climate Adaptation

  • Lewis’ “Hunting phenomenon”
  • Bergmann’s rule –warm blooded species
    • Body size larger in colder climates
    • linear shapes in warmer climates
    • Size and shape variation explained by surface area/volume ratios
  • Allen’s rule –warm blooded species again
    • Colder climates = shorter appendages
    • Warmer climates = longer appendages
  • Cranial shape –cephalic index
  • Nasal shape –nasal index

High Altitude Adaptations

  • Varied stressors at altitude: low oxygen, cold, low air pressure; aridity; high UV exposure, etc.
  • Hypoxia –short vs. long term responses
  • Developmental responses to hypoxia are numerous
  • Responses to high altitude differ among indigenous populations
  • Less than 1% of the world’s population lives at greater than 8,ooo feet
  • Altitude stressors
    • Oxygen
    • Cold
    • Air
    • pressure
    • Food deficiencies
    • Dry
    • High UV exposure
    • Quechua: Increased RBC counts, chest circumference
    • Ethiopian highlands: increased hemoglobin levels
    • Tibet: increase in of CO2production

    Nutritional adaptation

    • Basal metabolic requirement (BMR)
    • Total day energy expenditure (TDEE)
      • Macro vs. micro-nutrient
    • Consequences for undernurtirion
      • Delayed development
      • Smaller overall
      • Susceptibility to infection
      • Early death
    • Consequences for overnurtirion
      • Obesity
      • Type II Diabetes
      • Osteoarthritis
      • Cardiovascular disease
      • Hypertension
      • Stroke
      • Thrifty gene hypothesis
      • Differences in the composition of traditional and contemporary meat products
    • Micronutrient deficiencies
      • B1
      • B3
      • D
      • C
    • Micronutrient deficiencies
      • Kwashiorkor
      • Marasmus
    • Relationship between undernutritionand height

    Work adaptation

    • Bone structure is plastic and influenced by genes, nutrition, and mechanical forces
    • Wolff’s law: bone grows in response to mechanical stress
      • Therefore, bone can react to lack of or increases in activity
    • Link between excessive workloads and fertility