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[DFG TRANS BIOLOGY 140 CHAPTER 1]

Introduction to Genetics
CHAPTER CONCEPTS
Genetics is built on a rich tradition of
discovery and experimentation.
Transmission genetics is the process by which
traits controlled by genes are transmitted
through gametes from generation to
generation.
Mutant strains can be used in genetic crosses
to map the location and distance between
genes.
The Watson-Crick model of DNA structure
explain how genetic information is stored
and expressed. This is the foundation of
molecular genetics.
Recombinant DNA technology
revolutionized genetics, and was the
foundation for the Human Genome Project,
and has generated new fields that combine
genetics with information technology.
Biotechnology provides genetically modified
organisms with uses varying from agriculture
to medicine.
Model organisms used in genetics research
are now utilized in combination with
recombinant DNA technology and genomics
to study human diseases.
Genetic technology is developing faster than
the policies, laws, and conventions that
govern its use.
Introduction to Genetics
I.

History of Genetics
A. Ancient Times
B. Dawn of Modern Biology
C. Charles Darwin and Evolution
II. Advancements in Genetics
A. Mendels Transmission of Traits
B. Chromosome Theory of Inheritance
C. Genetic Variation
D. Chemical Nature of Genes
III. Era of Molecular Genetics
A. Structure of DNA and RNA

B. Gene Expression
C. Proteins and Biological Function
D. Genotype to Phenotype
IV. Recombinant DNA Technology
V. Expansion of Biotechnology
A. Plants, Animals, and the Food Supply
B. Genetics and Medicine
VI. New and Expanding Fields
VII. Model Organisms
A. Modern Set of Genetic Model Organisms
B. Uses on Human Diseases
VIII.
Age of Genetics
A. Nobel Prizes and Genetics
B. Genetics and Society

On December 1998 , deCODE Genetics had received


a license to create and operate a datebase drawn
from the medical records of Icelands 270,000
residents. It was a resource for research and was very
successful till its end in 2012.
deCODE Genetics had picked Iceland because (1)
residents high level of genetic relations (2) few
immigrants brought new genes and (3) Icelands
health-care system is state-supported.
This brings up plenty of ethical questions. More than
any other time in the history of science, addressing
the ethical questions surrounding an emerging
technology is as important as the information gained
from that technology.

I. History of Genetics
8000-1000 B.C.
Selective breeding of several species
Cultivation of plants (5000 B.C.)
Golden Age of Greek Culture
Hippocratic School of Medicines On the Seed
argued that humors served as bearers of
hereditary traits (parts in miniature form)
Humors can be altered before passing down
to offspring (inheritance of acquired traits)

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Aristotle proposed male semen contained


vital heat that producing offspring of the
same form as the parent.
Vital heat cooked menstrual blood (physical
substance) from females

Charles Darwin and Evolution


Charles Darwin (1859)
Published On the Origin of Species
Existing species arose by descent with
modification from ancestral species

Theory of Natural Selection


According to Alfred Russel Wallace, populations
tend to contain more offspring than the
environment can support, leading to a struggle
for survival among individuals. Those with
heritable traits that allow them to adapt to their
environment are able to survive and reproduce
better. A new species may result if a population
carrying these inherited variations becomes
reproductively isolated.

Dawn of Modern Biology (1600 1850)


William Harvey (1600s)
Theory of Epigenesis
An organism develops from a fertilized egg by a
succession of developmental events that
transform the egg into an adult

Conflicted with the Theory of


Preformation
Fertilized egg contains complete miniature adult
called the homunculus

Schleiden and Theodor Schwann


Cell Theory
All organisms are composed of basic units called
cells, which are derived from similar preexisting
structures

Conflicted with the idea of spontaneous


generation (disproved by Louis Pasteur)

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Lacked an understanding of genetic basis of


variation and inheritance

Gregor Jordan Mendel (1866)


Showed how traits were passed from
generation to generation in pea plants
Offered a general model of how traits are
inherited
Brought to light by Correns, de Vries, and
Tschermak around 1900
Closed gap in Darwins theory by laying the
foundation for the chromosomal theory of
inheritance

II. Advancements in Genetics


Mendels Transmission of Traits
Gregor Mendel
Augustinian Monk that conducted decade
long series of experiments using peas
Each trait in the plant is controlled by a pair
of genes and that during gamete formation,
members of a gene pair separate from each
other
Foundation of Genetics (study of heredity
and variation)

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Genetic Variation
Drosophilia melanogaster (fruit fly) a whiteeyed fly was spotted amongst red eyed flies
Caused by a mutation in of of the genes
controlling eye color

Terms
o

Mutation any heritable change in


the DNA sequence, source of all
genetic variation
o Allele alternative forms of a gene
o Phenotype observable features
o Genotype set of alleles for a given
trait

Chromosome Theory of Inheritance


Terms
o Diploid Number (2n) characteristic
number of chromosomes in most
eukaryotes
o Haploid Number (n) produced from
meiosis, essential for maintaining 2n
o Homologous Chromosomes paired
chromosomes in diploid cells
o Mitosis type of cell division,
chromosomes are identical in daughter
and parent cell
o Meiosis type of cell division, gamete
formation, cells only receive one
chromosome from each pair
Walter Sutton/Theodor Boveri Behavior of
chromosomes during meiosis is identical to
the behavior of genes during gamete
formation
o Proposed that genes are carried by
chromosomes
o Chromosome Theory of Inheritance

Chemical Nature of Genes


Proteins and DNA were the major chemical
components of chromosomes, people were
not sure what was the carrier of genetic info
Avery, MacLeod, McCarty (1944) DNA
was the carrier of genetic information
(supported by virus researchers)

III. Era of Molecular Genetics

Structure of DNA and RNA


James Watson and Francis Crick (1953)
Described the structure of DNA Nobel
Prized (1962)

Inherited traits are controlled by genes


residing on chromosomes faithfully
transmitted through gametes

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Table 1.1. DNA vs RNA
DNA
Double-helix
Deoxyribose sugar
Thymine
Ladder-like

IV. Recombinant DNA Technology


RNA
Single-Stranded
Ribose sugar
Uracil

Proteins and Biological Function


Proteins are the end products of gene
expression
Proteins are molecules with the potential for
enormous structural diversity and serve as
the mainstay in biological systems
Enzymes (largest category) biological
catalysts
Notable proteins other than enzymes
o Hemoglobin oxygen-binding
molecule in RBCs
o Insulin pancreatic hormone
o Collagen connective tissue molecule
o Actin and Myosin contractile
muscle proteins
ESSENTIAL POINT
The central dogma of molecular biology that DNA is a
template for making RNA, which in turn directs the
synthesis of proteins explains how genes control
phenotypes

Genotype to Phenotype
Sickle-cell anemia mutant form of
hemoglobin, results from having 1 out of the
146 amino acids in the protein changed
Mutant B-globin cause RBCs to polymerize when the
bloods oxygen concentration is low, forming long
chains of hemoglobin that distort the shape of RBCs
(make it fragile), Sickle-shaped blood cells block blood
flow in cappiliaries and small blood vessels

All symptoms caused by a change in a single


nucleotide shows that these two are
intrinsically linked

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Began with the discovery that restriction


enzymes used by bacteria to cut the DNA of
invading viruses could be used to cut any
organisms DNA at specific nucleotide
sequences, producing a reproducible set of
fragments
Researchers found ways o insert these DNA
fragments into carrier DNA molecules
(vectors) to form recombinant DNA molecules
These can be cloned through bacterial
reproduction, and these clones can be used to
isolate genes (for study)
Genome the complete haploid DNA
content of a specific organism
Genome libraries collection of clones that
represent an organisms genome

V. Expansion in Biotechnology
Biotechnology use of recombinant DNA
technology and other molecular techniques to make
products
Plants, Animals, and Food Supply
Transfer of heritable traits across species
using recombinant DNA technology creates
transgenic organisms
Has revolutionized the agriculture industry
Dolly the Sheep (1996), cloned by nuclear
transfer
Genetics and Medicine
Every child bearing couple has an
approximately 3% risk of having a child with
some form of genetic anomaly
Biotechnology has allowed a prenatal
diagnosis of heritable disorders and to test
the parents as carriers

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research [easy to grow, short life cycle,


many offspring, analysis is
straightforward]

VI. New and Expanding Fields

Recombinant DNA technology has prompted


scientists to consider sequencing all the
clones in a library to derive the nucleotide
sequence of an organisms genome (Human
Genome Project, 1990-2003)
Several new biological disciplines arose
o Genomics study of genomes
o Proteomics identifies the set of
proteins present in a cell under a
given set of conditions and studies
their functions and interactions
o Bioinformatics to develop hardware
and software for processing
nucleotide and protein data

Modern Set of Genetic Model Organisms


Addition of more model organisms like
viruses (T phages and lambda phage) and
microorganisms (bacterium Escherichia coli
and yeast Sacchaomyces cerevisia)
Notable Model Organisms
o Caenorabditis elegans (nematode)
simple nervous system
o Arabidopsis thaliana (plant) short
life cycle, used in plant biology
o Danio rerio (zebrafish) small,
reproduces rapidly, egg, embryo, and
larvae are transparent
Uses on Human Diseases
What is learned in animals can be used in
humans (life has a common origin)
We have yet to reach a consensus on how and
when some of this technology will be
determined to be ethically safe and acceptable

VII. Model Organisms


Principles of inheritance were of universal
significance amongst plants and animals
Model organisms organisms used for
the study of basic biological processes
Old Generation of Model Organisms
o Drosophilia melanogaster (fruit fly)
o Mus musculus (mouse)
Used because (1) Genetic mechanisms are
universal and (2) Suitable for genetic

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VIII. Age of Genetics


Nobel Prizes and Genetics
Genetics is well celebrated in the Nobel
Prizes
Thomas Morgan Chromosome Theory of
Inheritance (1933), Unnamed (2002, 2006, 2007),
Blackburn, Greider, Szostak (2009), Edwards
(2010), Ramakrishnan, Steitz, Yonath (2010)

Genetics and Society


Genetics technology is having a profound
effect on society, but policies and legislation
governing its use are lagging behind the
resulting innovations

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