READINGS: Primary Source: Ch. 20and 21 in BIOLOGY, (1999) by Raven, P.H. and G.B. Johnson (5th ed.) on reserve in library

1. Outline the factors that shaped Darwin's evolutionary theory. In particular how did his observations on his voyage on the Beagle and his reading of Lyell and of Malthus influence his thinking?
2. Compare and contrast the evolutionary theories of Darwin and Lamarck. (On what points did they concur and how are they different?)
3. Explain in detail the process of natural selection. What were the original arguments brought against this concept and what is the evidence in its favour?
4. Discuss the evidence that natural selection explains microevolution. Include a specific example of microevolution.

5. List and explain 7 lines of evidence for macroevolution.

Key Terms: heredity, genetics, gene, evolution, natural selection, Charles Darwin, species, Lyell and Hutton, Malthus, Jean Baptiste Lamarck, alleles, teleology, microevolution, macroevolution, sickle-cell anemia, industrial melanism, phylogenetic tree, homology, homologous structures, analogous structures, vestigial structures

Ch. 21 in BIOLOGY, (1999) by Raven, P.H. and G.B. Johnson (5th ed.) on reserve in library

1. State the age of the earth, the age of the oldest prokaryotic and eukaryotic fossils, and the age of the oldest multicellular organisms.
2. Differentiate among primates, hominoids and hominids with respect to evolutionary relationships and physical and behavioral characteristics.

1. Outline the current ideas of the evolution of hominids. Describe the various species of Australopithecus and Homo and some of what is known about them.
2. Describe the characteristics found in early primates which indicate an arboreal existence.

5. Appraise the significance of the three most prominent misconceptions about human evolution.

6. Diagram a possible evolutionary tree for humans.

Key Terms: paleoanthropology, Paleozoic Era, Mesozoic Era, Cenozoic Era, primate, Hominidae, Prosimii, Anthropoidea, Hominoids, Pongidae, Australopithecus, afarensis, Australopithecus robustus, Australopithecus bosei,

Homo Habilis, Australopithecus ramidus, Homo erectus, Homo sapiens

1. Explain Mendel's choice of peas for his experiments.

1. Describe the key details of Mendel's experiments that led him to the law of segregation. Summarize the results of those experiments and the Law of Segregation.
2. Analyse monohybrid and dihybrid crosses using a Punnett Square.
3. Describe the Law of Independent Assortment and understand how it is different from but related to the Law of Segregation.
4. Describe the ABO blood groups in humans. Relate the phenotype to the genotype and the antigens on the cell and antibodies in the serum
5. Define and/or describe incomplete dominance, co-dominance, multiple alleles and polygenic inheritance and give examples of each.
6. Solve genetics problems such as those found at the end of this chapter.

Key Terms: Gregor Mendel, "true-breeding", character, trait, hybridization, monohybrid cross, P₁, F₁, F₂, gene, allele, recessive, dominant, homozygous, heterozygous, genotype, phenotype, testcross, codominance, incomplete dominance, antigen, isoagglutinin

1. Describe how karyotypes are prepared and what the human chromosome set consists of.
2. Describe the stages of the cell cycle (you should be able to sketch a cell cycle diagram) and the events that highlight each stage.

1. Identify the 4 stages of mitosis and the events that highlight each stage. Be able to draw a cell at each stage of mitosis and to recognize these stages in a diagram.
2. Identify the 4 stages of meiosis I and meiosis II and the events that highlight each stage. Be able to draw these stages and recognize them in a diagram.
3. Compare and contrast mitosis and meiosis. Know at least 3 major ways in which these two processes differ.

6. Describe gametogenesis in the testes and ovaries. In particular, compare and contrast spermatogenesis and oogenesis in terms of the difference in timing of the meiosis during an individual’s life and in terms of how many gametes result from the meiosis in each case.

Key Terms: nuclear envelope, chromosomes, chromatin, centromere, metacentric, acrocentric, telocentric, karyotype, homologous chromosomes, autosomes, sex chromosomes, mitosis, diploid, meiosis, gametes, haploid, zygote, G₁ phase, G₂ phase, S phase, interphase, sister chromatids, centriole, prophase, spindle apparatus, metaphase, anaphase, telophase, cleavage furrow, reduction division (= meiosis I), equatorial division (= meiosis II), synapsis, tetrad, crossing over, chiasmata, independent assortment, spermatogenesis, oogenesis, polar body, chromosome theory of inheritance

1. Identify the symbols used in pedigree analysis and construct pedigree charts given a description of family relationships.
2. For each of 6 different modes of inheritance in humans, describe the characteristics of the pedigree and give example(s) of disease(s) that follow this pattern of inheritance.
3. Briefly describe the abnormality and the mode of inheritance for each of the following conditions: albinism, cystic fibrosis, sickle-cell anemia, Marfan syndrome, colour blindness, hemophilia, and muscular dystrophy.
4. Discuss variations in gene expression. Include and define the words penetrance, expressivity, and pleiotropy in your discussion. Why is the late onset of an autosomal dominant disease like Huntington disease important for the survival of these lethal alleles?
5. Discuss the concept of linkage and describe how linkage can be used to map genes on chromosomes.
6. Given a pedigree, be able to identify the mode(s) of inheritance that would or would not be compatible with such a pedigree.
7. olve genetics problems such as those at the end of chapters 4.

Key Terms: pedigree chart, albinism, melanism, cystic fibrosis, CFTR (= cystic fibrosis transmembrane regulator), sickle-cell anemia, hemoglobin, Huntington disease, mutation, Marfan syndrome, fibrillin, achondroplasia, sex-linked inheritance, hemizygous, opsins, hemophilia, hemophilia A, muscular dystrophy, dystrophin, Duchenne muscular dystrophy, Becker muscular dystrophy, pseudoautosomal inheritance, Y-limited genes, H-Y antigen, penetrance, expressivity, pleiotropy, linkage, genetic map, lod method

1. Define polyploidy and euploidy. Describe 4 different mechanisms that give rise to polyploidy and state during which stage of development they occur.
2. Describe and be able to diagram nondisjunctions occurring at either meiosis I or meiosis II and describe the resulting gametes for each.
3. State which trisomies can result in live births. Describe Down Syndrome and the abnormalities associated with it.
4. State the risk factor(s) that predispose to aneuploid conditions and state 2 hypothesis concerning the mechanisms determining this predisposition.
5. Describe Turner Syndrome, Klinefelter Syndrome, XYY syndrome and XXX syndrome.
6. Describe the Lyon hypothesis and present several lines of evidence supporting this hypothesis.
7. Describe the 3 stages of sexual development and the factors that influence each of these stages. Relate these stages to true hermaphroditism and testicular feminization and describe the abnormality and its cause for each condition.

1. Outline the variations found in chromosome structure including deletions, duplications, translocations and inversions.
2. Differentiate between reciprocal translocations and Robertsonian translocations. Be able to diagram the 6 possible gametes resulting from a 14/21 Robertsonian translocation and the outcome after fertilization of each of these gametes (as in Fig. 6.19).
3. Outline 3 different methods of prenatal diagnosis: amniocentesis, chorionic villus sampling, and screening of eggs for genetic defects

Key Terms: polyploidy, endoreduplication, tetraploidy, dispermy, aneuploidy, nondisjunction, Down syndrome, Turner syndrome, Klinefelter syndrome, XYY syndrome, XXX syndrome, Lyon hypothesis, Barr body, sex ratio, chromosomal sex, gonadal sex, phenotypic sex, gonad, SRY = sex-determining region of Y chromosome, testosterone, dihydrotestosterone, true hermaphrodite, testicular feminization, sex-influenced genes, sex-limited genes, deletion, duplication, translocation, inversion, cri-du-chat syndrome, reciprocal translocation, Robertsonian translocation, amniocentesis, chorionic villus sampling, screening eggs for genetic defects, ultrasonography, fetoscopy, preconception genetic testing

1. Describe the structure of a nucleotide and describe how nucleotides are linked to form nucleic acids.

2. Name 2 purines and 3 pyrimidines.

1. Compare and contrast DNA and RNA in terms of the differences and similarities in their structures and functions.
2. Describe the Griffith-Avery experiments with Streptococcus pneumoniae and mice. State the conclusion reached from these experiments.
3. State Chargaff's rule. Describe Watson and Crick's 3-dimensional modes of DNA based on Franklin's x-ray crystallography. Outline how this model incorporates all the requirements of the genetic material: storage of information, replication and mutability.

6. Contrast the structure of chromosomes in prokaryotic and eukaryotic cells.

7. Describe what is meant by "semiconservative replication" of DNA.

Key Terms: nucleic acids, DNA = deoxyribonucleic acids, RNA = ribonucleic acids, nucleotide, protein, amino acids, Griffith-Avery experiment, transformation, covalent bond, hydrogen bond, ribose, deoxyribose, base, purine, adenine, guanine, pyrimidine, cytosine, thymine, uracil, 5’ end, 3’ end, Rosalind Franklin, Watson and Crick, complementary, chroamtin, semiconservative, DNA replication, origin of replication, DNA ligate, DNA polymerase.

1. Define transcription and translation and state where they occur in the cell.

1. Describe the structure of proteins and amino acids and recognize a peptide bond and the N and C termini of proteins in diagrams. Label the amino group, carboxyl group and variable group of an amino acid.
2. Describe the 4 levels of protein structure and the types of bonds that hold together each level of structure.

4. List some of the functions of proteins and give examples.

5. Describe a reaction involving an enzyme and define substrate and product.

1. Understand what is meant by the triplet code and how 4 nucleotide bases are used to code for 20 different amino acids.
2. Answer a question such as the following one:

Question: The following represent nucleotide sequences on the template or sense (coding) strand of 3 DNA molecules:

Sequence 1: CTTTTTTGCCAT

Sequence 2: ACATCAATAACT

Sequence 3: TACAAGGGTTCT

(a) For each strand, determine the mRNA sequence that would be derived from transcription.

(b) Using the table of the genetic code (Fig. 9.8, Cummings), determine the amino acid sequence that would result from the translation of these mRNAs.

(c) For sequence 2, indicate the anticodons of the tRNAs that would participate in translation.

(d) For sequence 1, indicate the nucleotide sequence of the other strand of DNA

8. Differentiate among the three primary kinds of RNA in terms of their functions.

3. Describe in detail the three stages of translation. In particular, describe the initiation complex and how it is formed, the 3 different steps involved in elongation, and the mechanism of termination of protein synthesis.
4. Describe mRNA processing. Why are a cap and tail added to mRNA? What are introns and exons?

Key Terms: transcription, translation, ribosome, gene, gene expression, amino group, carboxyl group, peptide bonds, C terminus, N terminus, primary structure, secondary structure, tertiary structure, quaternary structure, enzyme, substrate, active site, product, codons, anticodons, termination codons, RNA polymerase, promoter, mRNA = messenger RNA, pre-mRNA, 5’ cap, 3’ tail, introns, exons, rRNA = ribosomal RNA, tRNA = transfer RNA, amino acid binding site, anticodon loop, initiation, initiation complex, elongation, termination

The student should be able to:

1. Define and describe the use of the following tools of molecular biology: restriction enzymes, plasmids, phages, gel electrophoresis.
2. Describe the steps involved in cloning a gene. (HINT: start with the isolation of DNA from 2 sources (eg. human DNA and plasmid DNA) and end with the isolation of either the gene or its products from a bacterial clone. Remember we outlined seven separate steps in class).
3. Define the term "genetic library." Why might it be difficult to find a particular gene of interest in the library and what are 2 possible approaches?
4. Describe the steps involved in the polymerase chain reaction and list some possible uses of this technique.
5. Describe the steps involved in restriction fragment length polymorphism (RFLP) analysis and describe 3 possible uses of this technique.
6. Discuss the application of DNA technology under the following 4 categories: (1) basic research (eg. the human genome project; (2) medical uses; (3) forensic use, and (4) agricultural use.

Key Terms: genetic engineering, recombinant DNA, restriction enzymes, vectors, plasmid, phage (= bacteriophage), gel electrophoresis, DNA ligate, genetic library, PCR = Polymerase Chain Reaction, RFLP = restriction fragment length polymorphism, ADA deficiency = adenosine deaminase deficiency, biotechnology, embryo splitting, nuclear transfer, transgenic organism

The student should be able to:

1. Outline in general terms at least 3 different possible consequences of the lack of activity of an enzyme in an enzymatic pathway.
2. Give one specific example of a defect in the metabolism of each of amino acids, carbohydrates, nucleic acids and lipids. Discuss each of these examples with respect to the mode of inheritance, phenotypic effects and treatment (if available).
3. Describe the effects of mutations in the transport protein hemoglobin. Include a description of both the hemoglobinopathies and the thalassemias.
4. Give an examples of a disease caused by: (a) a mutation of a gene that codes for a structural protein and (b) a mutation of a gene that codes for a protein that is a transcription factor (transcription regulator), and (c) a mutation of a gene that codes for a receptor.

The student should be able to:

1. Differentiate between somatic and gametic mutations in terms of location and effects on future offspring.

1. Differentiate between mutation and recombination.
2. Describe in detail the different types of mutations and their effects (include nucleotide substitutions and deletions/insertions).

1. Discuss the fragile X syndrome and the phenomenon of anticipation.
2. Describe 3 causes of mutations and the types of errors that they cause.

Key Terms: recombination, mutation, missense mutation, nonsense mutation, sense mutation, frameshift mutation, trinucleotide repeats, fragile X syndrome, transmitter males, anticipation, FMR-1 gene, mutagens, free radicals, thymine dimers, Xeroderma Pigmentosum, base analogs, intercalating agents

The student should be able to:

1. Define proto-oncogenes and tumour suppressor genes. Discuss the involvement of oncogenes and tumour suppressor genes in cancer, using retinoblastoma as an example for the involvement of tumour suppressor genes in cancer.
2. Discuss the concept of cancer as a multistep process.
3. Explain how viruses might be associated with cancer.

Key Terms: proto-oncogenes, tumour suppressor genes, oncogenes, retinoblastoma allele, virus

The student should be able to:

1. Define population, gene pool, allele frequency, genotype frequency and genetic equilibrium.

1. State the Hardy Weinberg Law and the conditions that must be met or assumptions made for application of this law.
2. Use the Hardy Weinberg Law to calculate the frequency of autosomal recessive genes, sex-linked genes and multiple alleles as well as to calculate the heterozygotes frequency in a population.

The student should be able to:

1. Differentiate between continuous and discontinuous variation. Describe the characteristics of traits that exhibit continuous variation. What is the phenomenon of regression to the mean?
2. Describe what is meant by multi factorial traits and the threshold effect.
3. Define heritability. Describe a number of different ways in which heritability might be estimated including the use of twin studies for this purpose.

Key Terms: polygenic, continuous variation, discontinuous variation, regression to the mean, multifactorial traits, multifactorial threshold model, heritability (H), correlation coefficient, monozygotic twins (= identical = maternal), dizygotic twins (= paternal), concordance, intelligence quotient (IQ)

The student should be able to:

1. List at least 5 principle agents of genetic diversity and evolutionary change in humans. Define and give examples of each one and describe how it causes changes in allele frequencies.
2. Give at least 4 reasons why natural selection in humans doesn't eliminate alleles causing deleterious or fatal diseases.
3. Discuss the concept of race in humans and describe the studies that have been conducted to support or refute the validity of classifying humans into races.

Key Terms: polymorphism, genetic drift, founder effect, population bottleneck, natural selection, fitness, glucose-6-phosphatase deficiency (G6PD), assortive mating, inbreeding = consanguinity, incest, race