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Chapter 1

The Science of Genetics

Pit Bull Tree


Scientists make a pit bull tree that can defend itself in
the rain forest.

Ugly Flower Pollination


Pretty flower worries that shell be pollinated by an ugly flower.

Supermans Sons Eyes


Supermans son inherited his x-ray vision and sees pink underwear.

Babys Mickey Mouse Ears


Baby mouses round ears reveal mothers relationship with Mickey Mouse.

Chapter Outline
Three Great Milestones in Genetics
DNA as the Genetic Material
Genetics and Evolution
Levels of Genetic Analysis
Genetics in the World: Applications of
Genetics to Human Endeavors

Three Great Milestones in


Genetics
Gregor Mendel: the rules of inheritance
James Watson and Francis Crick: the
structure of DNA
The Human Genome Project: the detailed
analysis of human DNA

Mendel: Genes and the


Rules of Inheritance (1866)
Geneshereditary
factors responsible for
traits
Allelesdifferent forms
of genes
Rules of Inheritance
Alleles of the same gene
separate during gamete
formation
Alleles of different genes
are inherited
independently

What is a Gene?
Genes are made of nucleic acids
Nucleic acids are made of building
blocks called nucleotides
Nucleotides have three components
Sugar molecule (ribose or
deoxyribose)
Phosphate molecule
Nitrogen-containing molecule
(adenine, guanine, cytosine,
thymine, uracil)

RNA is ribonucleic acid


DNA is deoxyribonucleic acid

Watson and Crick:


The Structure of DNA (1953)
Nucleotides are linked in
a chain through sugarphosphate interactions
DNA molecules are
made of two chains of
nucleotides wound
around each other in a
helix
Base pairs hold the
chains together
A pairs with T
G pairs with C

The Human Genome Project:


Sequencing DNA and
Cataloguing Genes
Genomethe collection of
DNA molecules that is
characteristic of an organism
Genomics is the analysis of
DNA sequences that make up
a genome
Genomics involves DNA
sequencing technology,
robotics, and computer
science
The Human Genome Project
determined the sequence of
nucleotides in the DNA of the
human genome

A Milestone in Genetics:
X174, the First DNA Genome
Sequenced
X174 is a virus that
has single-stranded
DNA as its genetic
material.
Frederick Sanger
sequenced the
genome of X174 in
1977

Key Points
Gregor Mendel postulated the existence of
particular factorsnow called genesto
explain how traits are inherited.
Alleles, the alternate forms of genes, account
for heritable differences among individuals.
James Watson and Francis Crick elucidated
the structure of DNA, a macromolecule
composed of two complementary chains of
nucleotides.

Key Points
DNA is the hereditary material of all life forms
except some types of viruses, in which RNA is
the hereditary material.
The Human Genome Project determined the
sequence of nucleotides in the DNA of the
human genome.
Sequencing the DNA of a genome provides
the data to identify and catalogue all the
genes of an organism.

DNA as the Genetic Material


Information flows from DNA to RNA to
protein.
In all cellular organisms, the genetic
material is DNA.
The genetic material
Must be able to replicate
Must contain information
Must be able to change

DNA Replication

DNA Replication
Based on the complementary nature of the two
strands of duplex DNA molecules.
When the two parental strands are separated, the
separated strands can serve as template for the
synthesis of new strands.
New strands are assembled by incorporating
nucleotides according to base-pairing rules.
At the end of replication, each template strand is
paired with a newly synthesized partner strand.
DNA replication is catalyzed by enzymes.

Gene Expression:
Using Genetic Information

Gene Expression
During transcription, an RNA molecule is
synthesized from a DNA template.
This messenger RNA (mRNA) molecules
contains the information needed to synthesize
a polypeptide.
During translation, the triplet codons in the
RNA specify the incorporation of particular
amino acids into a polypeptide chain.

The Proteome
Proteomethe collection of all the
different proteins in an organism.
Humans have between 20,000 and
25,000 genes in the genome and
hundreds of thousands of proteins in the
proteome.
Proteomicsthe study of all the
proteins in cells.

The Central Dogma of


Molecular Biology

The flow of information is DNA RNA protein.


Some viruses can use RNA as a template for the
synthesis of DNA in reverse transcription.
Many genes do not encode polypeptides; their endproducts are RNA molecules.

Mutation:
Changing Genetic Information

Key Points
When DNA replicates, each strand of a duplex
molecule serves as the template for the
synthesis of a complementary strand.
When genetic information is expressed, one
strand of a genes DNA duplex is used as a
template for the synthesis of a complementary
strand of DNA.
For most genes, RNA synthesis (transcription)
generates a molecule (the RNA transcript) that
becomes a messenger RNA (mRNA).

Key Points
Coded information in an mRNA is
translated into a sequence of amino
acids in a polypeptide.
Mutations can alter the DNA sequence
of a gene.
The genetic variability created by
mutation is the basis for biological
evolution.

Genetics and Evolution


Variation in the DNA
sequence makes it
possible for species
to evolve over time.
Organisms with
similar DNA
sequences are
descended from a
common ancestor.

A phylogenetic tree
A phylogenetic
tree, or phylogeny,
represents the
historical
relationships among
organisms.

Key Points
Evolution depends on the occurrence,
transmission, and spread of mutant
genes in groups of organisms.
DNA sequence data provide a way of
studying the historical process of
evolution.

Still Not Convinced About Evolution?

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BASIC FEATURES OF GENETIC


ENGINEERING
What is genetic engineering?
Genetic engineering is the process of manually
adding new DNA to an organism. The goal is to
add one or more new traits that are not already
found in that organism. Examples of genetically
engineered (transgenic) organisms currently on
the market include plants with resistance to
some insects, plants that can tolerate
herbicides, and crops with modified oil content.

TO UNDERSTAND GENETIC
ENGINEERING
CONCEPT #1: What is DNA?
DNA is the recipe for life. DNA is a molecule found
in the nucleus of every cell and is made up of 4
subunits represented by the letters A, T, G, and C.
The order of these subunits in the DNA strand
holds a code of information for the cell. Just like the
English alphabet makes up words using 26 letters,
the genetic language uses 4 letters to spell out the
instructions for how to make the proteins an
organism will need to grow and live.

TO UNDERSTAND GENETIC
ENGINEERING
CONCEPT #2: Why are proteins important?
Proteins do the work in cells. They can be part
of structures (such as cell walls, organelles,
etc). They can regulate reactions that take
place in the cell. Or they can serve as
enzymes, which speed-up reactions.
Everything you see in an organism is either
made of proteins or the result of a protein
action.

1.4 TO UNDERSTAND GENETIC


ENGINEERING
CONCEPT #3: How is DNA important in genetic
engineering?
DNA is a universal language, meaning the genetic
code means the same thing in all organisms. It would
be like if all cookbooks around the world were written
in a single language that everyone knew. This
characteristic is critical to the success of genetic
engineering. When a gene for a desirable trait is
taken from one organism and inserted into another, it
gives the recipient organism the ability to express
that same trait.

TO UNDERSTAND GENETIC
ENGINEERING
How is genetic engineering done?
Genetic engineering, also called
transformation, works by physically
removing a gene from one organism and
inserting it into another, giving it the ability
to express the trait encoded by that gene. It
is like taking a single recipe out of a
cookbook and placing it into another
cookbook.

Genetics in the World:


Applications of Genetics to
Human Endeavors
Genetics is relevant in many
venues outside the research
laboratory.

Genetics in Agriculture:
Selective Breeding

Genetics in Agriculture:
Genetically Modified Organisms
Genetically
Modified
Organisms (GMOs)
are have been
altered by the
introduction of
foreign genes.

Genetics in Medicine
Inborn Errors of
Metabolism are metabolic
abnormalities caused to
mutant alleles.
Genetic Counselors
advise people about
inheritance of genetic
diseases.
Molecular genetics

new ways to detect mutant


alleles.
new ways to treat diseases.

Genetics in Society
Economic impactbiotechnology
industry, pharmaceutical industry.
Legal impactpaternity testing,
forensics, identification
Philosophical impact

Key Points
Discoveries in genetics are changing
procedures and practices in agriculture
and medicine.
Advances in genetics are raising
ethical, legal, political, social, and
philosophical questions.