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Biology 2250 Principles of Genetics

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Principles of Genetics Instructors: Dr. Steven M. Carr Molecular Genetics Dr. David J. Innes Mendelian Genetics – PowerPoint PPT presentation

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Title: Biology 2250 Principles of Genetics


1
Biology 2250Principles of Genetics
  • Instructors
  • Dr. Steven M. Carr ? Molecular Genetics
  • Dr. David J. Innes ? Mendelian Genetics

2
Course Web Pages
  • Dr.Innes www.mun.ca/biology/dinnes/B2250/B2250.ht
    ml
  • Dr. Carr www.mun.ca/biology/scarr/Bio2250.html
  • Text Web Page http//www.whfreeman.com/mga/
  • Virtual Fly http//www.biologylabsonline.com/

3
Tentative Lecture Dates and Topics
  • Carr Sept. 8 Oct. 4 Structure and function of
    DNA and genes
  • Innes Oct. 13 Nov. 15 Mendelian Genetics
  • Carr Nov. 22 Dec. 1 Molecular Genomics
  • Tests I Oct. 6
    (Thurs)
  • II Nov.17
    (Thurs)

4
Weekly Online Quizzes
  • Marks
  • Oct. 14 Example Quiz 2 for logging in
  • Oct. 21 Quiz 1 2
  • Oct. 28 Quiz 2 2
  • Nov. 4 Quiz 3 2
  • Nov. 10 Quiz 4 2

5
WebCT Quizzes
  • Log in http//webct.mun.ca8900/

6
Webct quizzes
7
Course Goals
  • Understanding of basic genetics
  • Solve problems
  • Think and think critically
  • Contribute to a discussion on
  • current issues in genetics
  • (GMO, gene therapy)

8
What is Genetics ?
  • - Genetics is the study of heredity and variation
  • - Examples of genetic variation (within species)
  • 1. Domesticated species
  • 2. Human genetics
  • 3. Natural Populations
  • Genetic variation ?Phenotypic variation
  • Molecular genetic variation

9
Cultivated varieties
10
Animal Breeds
11
Human Genetic Variation
12
Natural Populations
13
DNA Sequence
Molecular Genetic Variation
DNA Fingerprint
Protein variation
Which suspect matches blood stain ?
14
Subareas of Genetics
  • cytogenetics
  • molecular genetics
  • human genetics
  • population genetics
  • quantitative genetics
  • developmental genetics
  • immunogenetics
  • etc. etc.

15
Genetic Journals
  • American Journal of Medical Genetics
    Clinical Genetics
  • Developmental Genetics
    Human Molecular Genetics
  • Genetics
    European J. of Human Genetics
  • Genetics Selection Evolution
    Nature Genetics
  • Genetika
    Fungal Genetics and Biology
  • Genome
    Cancer Genetics and Cytogenetics
  • Genomics
    American J. Human Genetics
  • Heredity
    Annals of Human Genetics
  • Hereditas
    Opthalmic Genetics
  • Japanese Journal of Human Genetics
    Human Genetics
  • Journal of Heredity
    Current Genetics
  • Molecular Biology and Evolution
    Animal Genetics
  • Molecular Ecology
    Brazilian J. Genetics
  • Molecular and General Genetics
    Biochemical Genetics
  • Theoretical and Applied Genetics
    J. of Medical Genetics
  • Trends in Genetics (http//www.trends.com/tig/de
    fault.htm)

16
History of Genetics
  • Domestication of animals
  • Cultivation of plants

17
Historical Notes
  • 1953 J. D. Watson and F. Crick()
  • DNA Structure
  • http//www.sil.si.edu/Exhibitions/Science-and-the-
    Artists-Book/bioc.htm

18
Advances in Genetics
  • Human Genome Sequence
  • http//www.hgsc.bcm.tmc.edu/
  • Drosophila Genome sequence
  • http//flybase.bio.indiana.edu/
  • Other organsims
  • http//daphnia.cgb.indiana.edu/
  • http//www.jgi.doe.gov/

19
Genetic Information
  • Online Mendelian Inhertitance in Man (OMIM)
  • http//www.ncbi.nlm.nih.gov/entrez/query.fcgi?dbO
    MIM
  • Online Mendelian Inhertiance in Animals (OMIA)
  • http//omia.angis.org.au/

20
Ethical Issues in Genetics
21
Ethical Issues in Genetics
  • Genetically modified organisms (GMO)
  • Gene therapy (Parkinsons) http//hdlighthouse.or
    g/research/genetherapy/updates/0053parkinson.phtml
  • Designer genes
  • Data banks of DNA finger prints (criminals?)
  • Cloning (Stem cell research)

22
Cloning
1999 - 2002
1997
1998
Sheep Mice Pig Goat Cow
Dolly An udder way of making lambs
Cc copy cat
nucleus
foster
egg
23
Genetics in the News
24
Basic Concepts of Genetics(Chapter 1)
  • Nucleus ? contains genetic material
  • DNA ? genetic material
  • ? 4 bases (nucleotides G,
    C, A, T)
  • Gene ? functional unit of heredity
  • ? sequence of 4 nucleotides
  • Chromosome ? linear DNA molecule

25
Pairs of Chromosomes (maternal, paternal)
Two sets of chromosomes diploid One set of
chromosomes haploid
26
(No Transcript)
27
DNA Replication
28
(No Transcript)
29
Gene Expression
2. Translation of mRNA triplet codon
Amino acid
1. Transcription of mRNA from DNA
30
Understanding Genetics
  • Relationship between
  • GENOTYPE ENVIRONMENT PHENOTYPE
  • set of genes
    morphology
  • inherited
    physiology

  • behaviour

31
Interaction of genes and environment
Phenotype
Genotype
32
Mendelian Genetics
  • Topics - Transmission of DNA during cell
    division
  • Mitosis and Meiosis
    (Ch. 4)
  • - Segregation (Ch. 5)
  • - Sex linkage (Ch. 5)
  • - Inheritance and probability
    (Ch.5)
  • - Mendelian genetics in humans
  • (pedigrees)
    (Ch.5)
  • - Independent Assortment (Ch.
    6)
  • - Linkage (Ch. 6)
  • - Gene mapping (Ch. 6)

33
Mendelian Genetics
  • Topics (cont.)
  • - Tetrad Analysis (mapping in
    fungi)
  • - Extensions to Mendelian
    Genetics
  • - Gene mutation
  • - Chromosome mutation
  • - (Quantitative and
    population genetics)

34
Basic Concepts of Genetics
  • Cell/nuclear division
  • Mitosis (somatic tissue)
  • identical cells
  • Meiosis (germ tissue)
  • gametes (variation)

35
Mendelian GeneticsChromosomes
  • Readings
  • Transmission of DNA and cell division
  • - Mitosis and meiosis (Ch. 4)
  • pp. 92, 100 113

36
Chromosome Theory of Inheritance (Ch. 4)
  • - genes organized into chromosomes
  • correlation Genetics Cytology
  • - theory can explain the behaviour of genes
    (segregation and independent assortment)

37
Chromosome and DNA Replication
  • DNA replication results in
  • chromosome replication
  • 2. Nuclear and cell division

38
(No Transcript)
39
Mitosis
Cell cycle S synthesis G gaps
n of chr. in a set
n
Haploid (n)
2n
Diploid (2n)
40
Meiosis
n
2n
41
Animal
Polar bodies
n
n
egg
42
Plant
n
gp gametophyte
43
Fungus
44
Cytological Observations
  • 1. Constancy of the number of chromosomes
  • Morphologically similar pairs (diploid)
  • 3. Gametes - contain one set (haploid)

2n
n
Homologous chromosomes
45
Two processes of nuclear division
  • 1. Mitosis (somatic tissue)
  • 2. Meiosis (germ tissue)

46
Mitosis
  • 1. one parent cell--------gt 2 identical

  • daughter cells
  • 2. same in all organisms
  • 3. simple
  • (a) each chromosome
  • doubles (identical)
  • (b) identical halves separate

47
Four Stages of Mitosis
  • 1.Prophase
  • 2. Metaphase
  • 3. Anaphase
  • 4. Telophase

48
1. Prophase
Chromosome replication
  • - chromosomes condense
  • - 2 chromatids (sister chromatids)
  • - centromere
  • - nuclear membrane breaks
    down

49
2. Metaphase
  • - chromosomes attach to spindle fibers
  • - chromosomes migrate to plane between poles
  • - maximum contraction karyotype
  • -
    number
  • -
    centromere position
  • -
    length

Nuclear spindle
50
3. Anaphase
  • - centromeres divide
  • - sister chromatids separate

51
4. Telophase
  • - nuclear membrane reforms
  • - spindle disperses
  • - cytoplasm divides (cytokinesis)

52
Mitosis
Mitosis Summary
2n 2
replication
mitosis
53
Mitosis Summary
2n 4
replication
mitosis
54
Mitosis Animation
http//www.whfreeman.com/mga/
55
Mitosis Lily Fig. 4-21
56
Meiosis(overview)
  • diploid (2n) ---------------gt haploid (n) gametes
  • Chromosome replication once --------gt 2 nuclear

  • divisions (meiosis I, II)
  • one nucleus -------------------gt 4 nuclei

57
Meiosis I Meiosis II
(reductional) (equational)
  • Prophase I Prophase II
  • Metaphase I Metaphase
    II
  • Anaphase I Anaphase
    II
  • Telophase I
    Telophase II

58
Meiosis I (reductional division)

Pairing of homologous chromosomes
2n ?
Continued ?
59
Meiosis II (equational division)

4 products n ?
60
Meiosis Animation
http//www.whfreeman.com/mga/
61
Meiosis Lily pollen Fig. 4-22
Prophase I Metaphase I Anaphase I Telophase
I Prophase II Metaphase II Anaphase
II Telophase II
62
Mitosis Meiosis
Comparison (Fig. 4-24)
  • somatic cells
    cells of sexual cycle
  • one doubling
    one doubling
  • 1 division ? 2 cells 2
    divisions ? 4 cells
  • same amount of DNA ½ amount of
    DNA

63
Mitosis Meiosis
Comparison (continued)
  • chrs doesnt change chrs.
    halved
  • No pairing of chr. Synapsis
    of homologs
  • Centromeres divide at Not at
    anaphase I,
  • anaphase
    but at anaphase II
  • Conservative
    Variation

64
Mitosis (n) Mitosis (2n) Meiosis
Fig. 4-20
65
Genetic Terminology
  • Genes hereditary elements
  • Alleles forms of a gene A , a
  • b,
    b
  • Genotypes Gene pairs
  • Heterozygote Aa
    bb
  • Homozygotes AA aa bb
    b b

66
Genes on Chromosomes
  • Expect behaviour of genes to correlate with the
    behaviour of chromosomes
  • genes
    chromosomes
  • Diploid (2n) AA, Aa, aa pairs
  • Haploid (n) A one set
  • a

67
Genes on Chromosomes
Fig. 4-17
b b homozygote
68
Genes on Chromosomes
b b heterozygote
69
b b homozygote
70
Genetic Links
  • http//www.biology-online.org/tutorials/2_genetics
    _evolution.htm
  • http//www.tokyo-med.ac.jp/genet/mfi-e.htm
  • http//www.biology.arizona.edu/mendelian_genetics/
    mendelian_genetics.html
  • http//science.nhmccd.edu/biol/genetics.html
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