WEEK 1: ORIGIN & IMPORTANCE OF GENETICS, THE CELL, AND THE CELL CYCLE

BASIC CONCEPTS IN GENETICS (FROM MODULES TAB)

OLD IDEAS

1. All life comes from other life. Living organisms are not spontaneously generated from non-living material.
2. Species concept: offspring arise only when two members of the same species mate. Monstrous hybrids don’t exist.
3. Organisms develop by expressing information carried in their hereditary material.
• Opposed to “preformation”: the idea that in each sperm (or egg) is a tiny, fully formed human that merely grows in size
4. The environment can’t alter the hereditary material in a directed fashion. There is no “inheritance of acquired characteristics.” Mutations are ran dom events.
5. Male and female parents contribute equally to the offspring.
• Ancient Greek idea: male plants a “seed” in the female “garden.”

HISTORY OF GENETICS AND GENOMICS

1859 Charles Darwin Publication of “The Origins of Species”, a treatise that formally outlined the theory of evolution via natural selection
1865 Gregor Mendel The concept of particulate (gene) inheritance was established. The laws of segregation and independent assortment
were demonstrated. The publication is entitled “Experiments in Plant Hybridization” and outlines the famous “pea
experiments.”
1866 Ernst Haeckel Proposes the idea that the hereditary material resides in the nucleus
1871 Friedrich Miescher The term nuclein is used for the material found inside the nucleus of a cell. Further experiments (1874) revealed nuclein
consisted of a nucleic acid and protein.
1879 Walter Fleming Described chromosome behavior during animal cell division. He stains chromosomes to observe them clearly and
describes the whole process of mitosis in 1882.
1899 William Bateson The use of hybridization between two individuals is described as a tool of the sc ientific analysis of heredity. This again
was discovered to be an important tenet of Mendel’s work.
1900 Carl Correns Hugo de Mendel’s work is rediscovered independently. de Vries and Correns were experiments similar to those of Mendel and
Vries Erich von Tschermak arrived at similar results. Once they read Mendel’s paper, they recognized its pre-eminence and made the world aware
of it.
1900 Hugo de Vries The term mutation is used to describe the apparently spontaneous appearance of new traits in evening primrose
1902 Walter Sutton Theodor Within a specific species, each chromosome is described as having unique physical characteristics. It is shown that
Boveri chromosomes occur in pairs, one parent contributes each member of the pair, and the pai rs separate during meiosis.
Sutton suggests chromosomes are a physical manifestation on which the unit of heredity resides. This came to be known
as the chromosomal theory of inheritance.
1902 Archibald Garrod The first human disease is described that exhibits Mendelian inheritance. The disease is alkaptonuria. Later (1909)
Garrod is the first to discuss the biochemical genetics of man.
1902 William Bateson The terms genetics, homozygote, heterozygote, epistasis, F1, F2, and allelomorph (shortened later to allele) were first
used.
1903 Wilhelm Johannsen The important concepts of phenotype, genotype, and selection were elucidated. The terms were actually coined later
(1909).
1910 Thomas Hunt Morgan The first demonstration of sex linkage in Drosophila is published. These suggested genes reside on chromosomes. The
era of fruit fly as a model organism begins.
1928 Frederick Griffith Transformation of Pneumococci is obtained. This is the critical experiment that leads to the eventual discovery that DNA
was the genetic material.
1944 Oswald T. Avery Extending the experiments of Griffith (1929), it is first shown that DNA is the genetic material. This fact is often lost, and
Colin M. MacLeod this discovery is often afforded to Hershey and Chase (1953).
Maclyn McCarty
1950 Erwin Chargaff Adenine=thymine and guanine=cytosine. It is demonstrated that within all DNA molecules, the number of adenines
equals the number of thymine, and the number of guanine equals the number of cytosine.
1952 Alfred Hershey The classic “blender experiment” is reported that shows that phage DNA enters (along with a little protein) and leads
Martha Chase to the eventual rupture of the cell. This is often, and mistakenly, considered the definitive experiment proving that DNA
is the genetic material.
1953 James Watson A structural model of DNA is presented that states it consists of two anti-parallel chains held together by hydrogen
Francis Crick bonds. The model suggests a model of DNA replication.
1957 Francis Crick The central dogma of molecular biology is proposed. This is a first elucidation of the link between the sequences in the
DNA molecule and the production of proteins.
1961 Marshall Nirenberg The concept that each amino acid corresponds to a triplet code was developed. The first correspondence was found
between the triplet AAA and the amino acid phenylalanine.
1997 E. coli genome project E. coli (4.7 Mbp) is sequenced and shown to contain 4,500 genes.
2001 International Human The human genome sequence (2900 Mbp) is published. It is estimated that the genome contains between 35,000 and
Genome Sequencing 40,000 genes. Later (2002) estimates place the number at 30,000 genes.
Consortium Celera Corp
2002 Mosquito Sequencing The malaria-parasite-carrying mosquito genome sequence (278 Mbp) is published. It is shown to contain 13,600 genes,
Consortium similar to the number found in Drosophila
2003 British Columbia Cancer The SARS-associated coronavirus genome sequence (30 Kbp) is released. The genome contains 16 openreading frames.
Agency The sequence is released less than five months after the disease began spreading worldwide.
MAJOR EVENTS IN THE 20 th CENTURY
1900 rediscovery of Mendel’s work by Robert Correns, Hugo de Vries, and Erich von Tschermak
1902 Archibald Garrod discovers that alkaptonuria, a human disease, has a genetic basis

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 1904 Gregory Bateson discovers linkage between genes. Also coins the word “genetics”.
1910 Thomas Hunt Morgan proves that genes are located on the chromosomes (using Drosophila).
1918 R. A. Fisher begins the study of quantitative genetics by partitioning phenotypic variance into a genetic and an environmental component.
1926 Hermann J. Muller shows that X-rays induce mutations
1944 Oswald Avery, Colin MacLeod and Maclyn McCarty show that DNA can transform bacteria, demonstrating that DNA is the hereditary material
1953 James Watson and Francis Crick determine the structure of the DNA molecule, which leads directly to knowledge of how it replicates
1966 Marshall Nirenberg solves the genetic code, showing that 3 DNA bases code for one amino acid
1972 Stanley Cohen and Herbert Boyer combine DNA from two different species in vitro, then transform it into bacterial cells: first DNA cloning
2001 Sequence of the entire human genome is announced

GREGOR MENDEL

• Austrian monk
• Born 1822 in Czech Republic
• Worked at monastery and taught high school
• Tended the monastery garden
• Grew peas and became interested in traits that were expressed in
different generations of peas

GENES

• Units of heredity
• Traits are produced by an interaction between genes and their
environment

DEOXYRIBONUCLEIC ACID (DNA) DOUBLE HELIX

• Components
o Phosphate
o Sugar
o Base
▪ Adenosine (A)
▪ Cytosine (C)
▪ Thymine (T)
WHAT IS GENETICS? ▪ Guanine (G)
• Each consecutive three DNA bases is
• It is the study of inherited traits and their variation a code for a particular amino acid
• Certain difficult-to-define human characteristics might appear to
be inherited if they affect several family members but may reflect
shared genetic and environmental influences RIBONUCLEIC ACID (RNA)

GENETIC INFORMATION • Produced by transcription process

o Copies the sequence of
• Genome part of one strand of a
- The complete set of genetic instruction DNA molecule into a
- Human genome was completed in 2003 which started in 1990 related molecule
• Genomics • Three RNA bases in a row attract
- Field that analyzes and compares genomes of different species another RNA that functions as a
connector, bringing in a particular
THE HUMAN GENOME PROJECT (HGP) amino acid
o Amino acids align to form a protein
• 1990-2003
• “The human genome underlies the fundamental unity of all FROM GENE TO PROTEIN TO PERSON
members of the human family, as well as the recognition of their
inherent dignity and diversity. In a symbolic sense, it is the • DNA is transcribed into messenger RNA
heritage of humanity.” – Universal Declaration on the Human • Messenger RNA is translated when three of its RNA bases attract
Genome and Human Rights another type of RNA that functions as a connector, bringing in a
particular amino acid.
LEVELS OF GENETICS AND GENOMICS • The amino acids align and link like snap beads, forming a protein.

THE LANGUAGE OF LIFE: DNA TO RNA TO PROTEIN

CHROMOSOMES

• Composed of DNA and protein

• A human somatic cell has 23 pairs of chromosomes
o 22 pairs of autosomes
o A pair of sex chromosomes

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