BIO322

Genetics
Dr Maya Hobeika Kahwagi
Department of Biology – Faculty of Arts & Sciences
© USEK 2023-2024

Course Outline
1. Introduction to genetics
2. Mitosis and Meiosis
3. Mendelian Genetics
4. Extensions of Mendelian genetics
5. Chromosome mapping in Eukaryotes
6. Genetics analysis and mapping in Bacteria and Bacteriophages
7. Sex determination and sex chromosomes
8. Chromosome mutations: variation in number and arrangement
9. Extranuclear Inheritance
10. DNA: structure, replication, organization and mutations
11. Population genetics

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 CHAPTER 1
INTRODUCTION TO GENETICS

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Chapter 1 - Outline

1. Genetics Progressed from Mendel to DNA in Less Than a Century

2. Discovery of the Double Helix Launches the Era of Molecular Genetics
3. From recombinant DNA to genomics
4. The Impact of Biotechnology Is Continually Expanding
5. Genetic Studies Rely on the Use of Model Organisms
6. We Live in the Age of Genetics

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  Genetics and molecular biology tools are in constant development
 Major part of everyday life
 Major breakthrough that will hopefully soon have a major impact on
human lives: CRISPR-Cas
 Raise concerns about science and conscience, progress and ethics.
 Modifying the human genome
 deCODE program in Iceland (270.000 inhabitants, genetically homogeneous
population, ideal model for genetic studies)
 Controversy regarding privacy and access to medical history, etc.
 Led to the discovery of genes that are associated with >25 common diseases (asthma,
CVD, osteoporosis…)

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I- Genetics Progressed from Mendel to

DNA in Less Than a Century

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  Exact recognition of heredity – uncertain
 Archaeological evidence -> domestication and artificial
selection started millennia ago
 Writings of the Hippocratic School of Medicine and of Aristotle
-> heredity related to humans (“humours”, “vital heat”, etc.)
 1600s: theory of epigenesis contradicting preformation
(homunculus)
 1830: the cell theory
 Mid 1800s: Darwin and Mendel

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 Genetics at the center of biology

 Determines individuals' appearance
 Drives cellular functions
 Links generations in all species

 It all started in the garden of a monastery in 1860

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 I.1- Mendel’s Work on Transmission of Traits

 1866: Mendel publishes his findings

 Mendel worked with peas (Pisum sativum) and used quantitative data to support his
ideas
 Traits are passed from generation to generation
 Transmission of genetic information from parents to offspring
 His work forms the foundation for genetics:
 Defined as the branch of biology concerned with the study of heredity and variation

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I.2- The Chromosome Theory of Inheritance:

Uniting Mendel and Meiosis

 Mendel’s experiments before the structure and role of chromosomes were known.
 ~ 20 years later, thanks to advances in microscopy:
 In most eukaryotes, members of each species have a characteristic number of
chromosomes called the diploid number (2n) in most of their cells (humans = 46)
 Chromosomes in diploid cells exist in pairs, called homologous chromosomes (identical by
shape and centromere position)

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 Human Karyotype

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I.2- The Chromosome Theory of Inheritance:

Uniting Mendel and Meiosis

 Description of mitosis and meiosis (end of 19th cent.)

 Mitosis:
 chromosomes are copied and distributed
 each daughter cell receives a diploid set of chromosomes identical to those in the
parental cell
 Meiosis:
 associated with gamete formation
 chromosomes are copied and distributed
 each daughter cell receives a haploid set of chromosomes (1/2 of the parental cell)

 Early 20th cent.: behavior of chromosomes during meiosis identical to the behavior of
genes during gamete formation described by Mendel
 proposal that genes are carried on chromosomes = chromosome theory of inheritance
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 A late stage in mitosis after
the chromosomes (stained
blue) have separated

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I.3- Genetic Variation

 Scientists began studying the inheritance of traits in the fruit fly

Drosophila melanogaster
 Discovery of a white-eyed mutant [white] among normal (wild-type)
red-eyed flies
 variation produced by a mutation in one of the genes controlling eye color
 Mutation = any heritable change in the DNA sequence – source of all genetic
variation

 Alleles = alternative forms of a gene

 Different alleles may produce differences in the observable features=
phenotype
 Genotype = set of alleles for a given trait carried by an organism

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 I.4- The Search for the Chemical Nature of
Genes: DNA or Protein?
 Work on white-eyed Drosophila
 mutant trait could be traced to a single chromosome
 genes are carried on chromosomes
 Which chemical component?
 1920s: Chromosomes = DNA + proteins
 large number of different proteins
 universal distribution in the nucleus and cytoplasm
 Many scientists believed proteins were the carriers of genetic information.
 1944 : Avery, MacLeod and McCarty : DNA carrier of genetic information in bacteria
 This evidence, though clear-cut, failed to convince many influential scientists
 Additional evidence from the works of Hershey and Chase on viruses

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II- Discovery of the Double Helix

Launched the Era of Molecular Genetics

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 II.1- The Structure of DNA and RNA

 DNA is a long, double-stranded, ladder-like macromolecule that twists to form a

double helix
 Each linear strand of the helix made up of subunits=nucleotides:
 Nucleotide = Sugar (deoxyribose) + Phosphate + nitrogenous base
 A, T, C or G
 1953 : Watson and Crick : 2 strands exact complements of one another : A=T et C≡G
 Base pairing crucial in DNA replication and gene expression

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5’ 3’

3’ 5’

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 II.1- The Structure of DNA and RNA

 RNA is similar to DNA, except that

 it is usually single-stranded
 it has uracil (U) in place of thymine (T)
 the sugar in RNA nucleotides is ribose instead of deoxyribose

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II.2- The Central Dogma

 DNA  RNA  Protein

 DNA is transcribed to RNA

 RNA is translated into protein

 This is known as the central dogma of genetics (Francis Crick, 1958)

Transcription Translation
Rwplication (RNA pol) (ribosomes)
(DNA pol) DNA RNA Protein

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II.3- The Genetic Code

 Codons
 Triplet nucleotides present in mRNA
 The genetic code

 Each triplet encodes for insertion of a specific

amino acid into a growing protein chain

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 II.4- Proteins

 Proteins are the end product of gene expression

 Protein action or location in a cell produces phenotype(s)

 Diversity of proteins
 20 different amino acids
 Numerous combinations of these 20

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II.4- Proteins

 Sickle-cell anemia is caused by a mutant form of hemoglobin

 The protein that transports oxygen from the lungs to cells in the body
 A single-nucleotide change in the DNA leads to an altered mRNA codon and the
insertion of a different amino acid
 This produces the altered version of the protein that is responsible for sickle-cell anemia

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 DNA Mutation Causes Sickle Cell Anemia

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III- Development of Recombinant DNA

Technology Began the Era of Cloning

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 III.1- Restriction Enzymes

 1970s: researchers discovered that restriction enzymes in bacteria cut viral DNA at
specific sites

 Restriction enzymes allowed the advent of recombinant DNA and cloning

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IV- The Impact of Biotechnology Is

Continually Expanding

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 III.1- Biotechnology

 Micro-organisms, plants and animals have been used by humans for millenia
 Molecular genetics and associated technologies have allowed a more efficient use
 Biotechnology is now used in
 health care
 supermarket products
 agriculture
 court system

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III.2- Biotechnology Used in Agriculture

 Biotechnology has been used for the genetic modification of crop plants for
 increased herbicide, insect, and viral resistance
 nutritional enhancement
 water use reduction
 Many GMO species were authorized in the USA and other coutries
 http://time.com/3840073/gmo-food-charts/ (2015)

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 III.3- Biotechnology in Genetics and
Medicine
 Biotechnology-derived genetic testing
 Utilized in prenatal diagnosis
 Tests for heritable disorders

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 V- Model Organisms Used to Study
Human Diseases

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V.1- Model Organisms Used to Study Human

Diseases
 Model organisms for genetic study meet these criteria:
 Easy to grow
 Short life cycle
 Produce many offspring
 Genetic analysis is straightforward

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V.2- Models of Human Diseases

 Recombinant DNA technology

 The ability to transfer genes across species

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 V.3- Model Organism: Historical and Modern

 First generation of model organisms

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V.3- Model Organism: Historical and Modern

 Modern model organisms:

 Viruses: T phages and lambda phages
 Bacteria: Escherichia coli
 Yeast: Saccharomyces cerevisiae

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 VI- We Live in the Age of Genetics

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 VI.1-The age of Genetics

 1865: Mendel set the stage for the study of genetics

 Genetics rapidly developed from Mendel’s peas to the Human Genome Project

 1962: Nobel Prize awarded to Watson, Crick, and Wilkins

 Numerous Nobel Prizes have been awarded since then in the field of genetics

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VI.2- Future of Genetics

 Society is faced with a host of sensitive genetics-related issues:

 Prenatal testing
 Ownership of genes
 Access to/safety of gene therapy
 Genetic discrimination
 Genetic privacy

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