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Anthropology Appreciating Human Diversity Fifteenth Edition Conrad Phillip Kottak University of Michigan McGraw-Hill © 2013 McGraw-Hill Companies. All Rights Reserved. C H A P T E R EVOLUTION AND GENETICS 5-2 EVOLUTION AND GENETICS • • • • Evolution Genetics Biochemical, or Molecular, Genetics Population Genetics and Mechanisms of Genetic Evolution • The Modern Synthesis 5-3 EVOLUTION AND GENETICS • What is evolution, and how does it occur? • How does heredity work, and how is it studied? • What forces contribute to genetic evolution? 5-4 EVOLUTION • Humans have uniquely varied ways—cultural and biological—of adapting to environmental stresses • Many scholars became interested in biological diversity and our position within the classification of plants and animals during the 18th century 5-5 EVOLUTION • Creationism: biological similarities and differences originated at the Creation • Linnaeus (1707–1778) developed the first comprehensive and still influential classification, or taxonomy, of plants and animals • Fossil discoveries during the 18th and 19th centuries raised doubts about creationism 5-6 EVOLUTION • Catastrophism: modified version of creationism that accounts for the fossil record by positing divinely authored worldwide disasters that wiped out creatures represented in the fossil record 5-7 THEORY AND FACT • Evolution: transformation of species; descent with modification • Alternative to creationism and catastrophism • Darwin best known of evolutionists 5-8 THEORY AND FACT • Darwin influenced by: • Theory of evolution – belief that species arise from others through a long and gradual process of transformation; all life forms are related and the number of species has increased over time • Grandfather, Erasmus Darwin, who proclaimed a common ancestry of all animal Lyell’s principle of uniformitarianism: the present is the key to the past; past geological events can bets be explained by observing ongoing events of the present and generalizing backward through time • Darwin applied uniformitarianism to living things; contributed a theory of evolution through natural selection 5-9 THEORY AND FACT • Darwin proposed natural selection to explain the origin of the species, biological diversity, and similarities among related life forms • Reached the conclusion along with Alfred Wallace • Natural selection: the process by which nature selects the forms most suited to survive and reproduce in a given environment • Variety within that population • Competition for strategic resources • Giraffes – long versus short necks • Argues that organisms that have a better fit within their environment, will reproduce more frequently than those less fit • Reproduction is the key • Natural selection continues today • Peppered moth 5-10 GENETICS • Genetic science helps explain causes/origin of biological variation • Mendelian genetics: ways in which chromosomes transmit genes across generations • Biochemical genetics: examines structure, function, and changes in DNA • Population genetics: investigates natural selection and the causes of genetic variation, stability, and change 5-11 MENDEL’S EXPERIMENTS • Austrian monk Gregor Mendel began series of experiments that revealed basic principle of genetics in 1856 • Studied inheritance of seven contrasting traits in pea plants • Concluded that heredity is determined by discrete particles or units (genes) that may disappear in one generation and reappear in the next 5-12 MENDEL’S EXPERIMENTS • Observed two traits: dominant and recessive • Dominant forms appear in each generation/recessive forms are masked when paired with dominant form of same trait • Concluded that a dominant form could mask another form in hybrid individuals, without destroying the recessive trait • Basic genetic units Mendel described were factors (now called genes or alleles) located on chromosomes 5-13 MENDEL’S EXPERIMENTS • Chromosome: a paired length of DNA, composed of multiple genes • Gene: a place (locus) on a chromosome that determines a particular trait • Allele: a variant to a particular gene 5-14 MENDEL’S EXPERIMENTS • Heterozygous: dissimilar alleles of a gene in an offspring • Homozygous: two identical alleles of a gene in an offspring • Genotype: organism’s hereditary makeup • Phenotype: evident biological traits • Dominance produces a distinction between genotype and phenotype 5-15 INDEPENDENT ASSORTMENT AND RECOMBINATION • Independent assortment: traits are inherited independently of one another • Recombination: traits may appear in new combinations with other traits; new types in an offspring on which natural selection can operate; two main ways produces variety 5-16 Figure 5.1: Mendel’s Second Set of Experiments with Pea Plants 5-17 Figure 5.2: Simplified Representation of a Normal Chromosome Pair 5-18 Figure 5.3: Punnett Squares of a Homozygous Cross and a Heterozygous Cross 5-19 Figure 5.4: Determinants of Phenotypes (Blood Groups) in the ABO System 5-20 BIOCHEMICAL, OR MOLECULAR, GENETICS • Mutation: changes in the DNA molecules of which genes and chromosomes are built; produces variety (source of new forms on which natural selection may operate) • DNA: • Can copy itself, which forms new cells that replace old ones • Produces the gametes: sex cells that make new generations • Guides the body’s production of proteins BIOCHEMICAL OR MOLECULAR GENETICS 5-21 BIOCHEMICAL, OR MOLECULAR, GENETICS • DNA molecule is a double helix • Structure of RNA, with paired bases, matches DNA • Proteins are built following instructions sent by DNA with the assistance of RNA • RNA carries DNA’s message to cytoplasm (outer area) • A protein, or chain of amino acids, is constructed by “reading” RNA’s bases (triplets) • DNA, with RNA’s assistance, initiates and guides the construction of proteins necessary for bodily growth, maintenance, and repair 5-22 Figure 5.5: DNA Replication 5-23 CELL DIVISION • Mitosis: ordinary cell division; one cell splits to form two identical cells • Mistakes in this process of cell division, including chromosomal breaks and rearrangements, can cause diseases such as cancer • Meiosis: process that produces sex cells • Four cells produced from one • Each cell carries half genetic material of original cell • Products of meiosis from one parent combine with those from the other parent • Chromosomes sort independently 5-24 CROSSING OVER • Crossing over: • Chromosomes temporarily intertwine in the course of reduplication and exchange lengths of their DNA • the process wherein homologous chromosomes exchange segments by breakage and recombination • Can occur with any chromosome pair • An important source of variety on which natural selection operates 5-25 Figure 5.6: Crossing Over 5-26 MUTATION • • • • Mutations: the most important source of variety upon which natural selection acts Base substitution mutation: substitution of one base in a triplet by another Chromosomal rearrangement: pieces of a chromosome break off and reattach someplace else on that chromosome • A mismatch of chromosomes resulting from arrangement can lead to congenital disorders, cancer, and possibly to speciation Chromosomes may also fuse: • When ancestors of humans split off from those of chimpanzees around six milion years ago, two ancestral chromosomes fused together in the humans line • Humans have 23 chromosome pair versus 24 for chimps 5-27 MUTATION • Approximately three mutations will occur in every sex cell • Most mutations are neutral • Evolution depends on mutations • Mutations are major source of genetically transmitted variety • Mutations may be neutral, harmful, or acquire an adaptive advantage through changing selective forces 5-28 POPULATION GENETICS AND MECHANISMS OF GENETIC EVOLUTION • Population genetics studies stable and changing populations • Gene pool: alleles and genotypes within breeding population • Genetic evolution: change in allele frequency in a breeding population There are four basic mechanisms that produce changes in gene frequency in a population: natural selection, mutation (already discussed), random genetic drift, and gene flow. 5-29 NATURAL SELECTION • Genotype: the genetic makeup of an organism • Phenotype: organism’s biological traits (outward physical appearance as well as internal organs, tissues, and cells and physiological processes and systems) • Natural selection acts only on phenotypes • Human biology has considerable plasticity • The environment works on a genotype to build a phenotype • Diet and altitude affect how a person grows 5-30 DIRECTIONAL SELECTION • After several generations of selection, gene frequencies change • Adaptive traits (favored by natural selection) will be selected from generation to generation • Directional selection (long-term selection of same traits) continues as long as environmental sources stay the same • Maladaptive alleles removed from gene pool • If environment changes, new selective forces start working, favoring different phenotypes • Selection operates only on traits that are present in a population • Favorable mutation may occur but doesn’t usually happen just because one is needed or desirable; many species are extinct because they couldn’t adapt to environmental shifts • Humans adapt rapidly to environmental variation by modifying biological responses and learned behavior 5-31 SEXUAL SELECTION • Selection also operates through competition for mates • Sexual selection: based on differential success in mating; a selection of traits that enhances mating success 5-32 STABILIZING SELECTION • Balanced polymorphism: frequencies of two or more alleles of a gene remain constant from generation to generation • Homozygous HbA produces normal hemoglobin • Homozygous HbS produces sickle-cell anemia • Heterozygosity for this gene produces the harmful but nonlethal sickle-cell syndrome • Africa, India, and Mediterranean • Traits that are maladaptive in one environment, can be adaptive in a different environment (and visa versa) 5-33 Figure 5.7:Distribution of Sickle-Cell Allele and Falciparum Malaria in the Old World 5-34 RANDOM GENETIC DRIFT • Random genetic drift: change in allele frequency that results from chance • Alleles can be lost by chance rather than because of any disadvantage they confer • Lost alleles can reappear in gene pool only through mutation • Fixation—the replacement, for example, of blue eyes by brown eyes—is more rapid in small populations 5-35 GENE FLOW • Gene flow: exchange of genetic material between populations of the same species • Direct or indirect interbreeding • Allele that isn’t advantageous in one environment might reach an environment in which it has selective advantage • Alleles spread through gene flow even when selection not operating on the allele • Species: group of related organisms whose members can interbreed to produce offspring that live and reproduce • Gene flow tends to prevent speciation: the formation of new species 5-36 Figure 5.8: Gene Flow between Local Populations 5-37 THE MODERN SYNTHESIS • Currently accepted view of evolution: • Modern Synthesis: combination of Darwin’s theory of evolution by natural selection and Mendel’s genetic discoveries • Speciation occurs when related populations become reproductively isolated from one another • Microevolution: small-scale changes in allele frequencies over just a few generations, but without speciation • Macroevolution: large-scale changes in allele frequencies in a population over a longer time period, which result in speciation 5-38 PUNCTUATED EQUILIBRIUM • Punctuated equilibrium: long periods of stasis (stability) may be interrupted by evolutionary leaps (revealed in fossil record) • Occurs through: • Extinction of one species followed by invasion of closely related species • Replacement of one species by a more fit related group in particular environment • Period of sudden environmental change that permits survival of radically altered species with significant mutations or a combination of genetic changes • Sudden environmental change offers possibility for the pace of evolutions to speed up • Species can survive radical environmental shifts, but extinction is more common • Extinction of dinosaurs was accompanied by rapid spread of mammals and birds 5-39