Chapter 1

The Science of Genetics

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 Chapter Outline
4An Invitation
4Three Great Milestones in Genetics
4DNA as the Genetic Material
4Genetics and Evolution
4Levels of Genetic Analysis
4Genetics in the World: Applications of
Genetics to Human Endeavors

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 Three Great Milestones in
Genetics
4Gregor Mendel: Genes and the rules of
inheritance
4James Watson and Francis Crick: the
structure of DNA
4The Human Genome Project: sequencing
DNA and cataloguing genes

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 Mendel: Genes and the
Rules of Inheritance (1866)
4 Genes—hereditary
factors responsible for
traits
4 Alleles—different forms
of genes
4 Rules of Inheritance
– Alleles of the same gene
separate during gamete
formation
– Alleles of different genes
are inherited
independently

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

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 Watson and Crick:
The Structure of DNA (1953)
4 Nucleotides are linked
in a chain through
sugar-phosphate
interactions
4 DNA molecules are
made of two chains of
nucleotides wound
around each other in a
helix
4 Base pairs hold the
chains together
– A pairs with T
– G pairs with C
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 The Human Genome Project:
Sequencing DNA and
Cataloguing Genes
4 Genome—the collection of
DNA molecules that is
characteristic of an organism
4 Genomics is the analysis of
DNA sequences that make up
a genome
4 Genomics involves DNA
sequencing technology,
robotics, and computer science
4 The Human Genome Project
determined the sequence of
nucleotides in the DNA of the
human genome
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 Key Points
4Gregor Mendel postulated the existence of
particular factors—now called genes—to
explain how traits are inherited.
4Alleles, the alternate forms of genes, account
for heritable differences among individuals.
4James Watson and Francis Crick elucidated
the structure of DNA, a macromolecule
composed of two complementary chains of
nucleotides.
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 Key Points
4DNA is the hereditary material of all life forms
except some types of viruses, in which RNA
is the hereditary material.
4The Human Genome Project determined the
sequence of nucleotides in the DNA of the
human genome.
4Sequencing the DNA of a genome provides
the data to identify and catalogue all the
genes of an organism.
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 DNA as the Genetic Material
4Information flows from DNA to RNA to
protein.
4In all cellular organisms, the genetic
material is DNA.
4The genetic material
– Must be able to replicate
– Must contain information
– Must be able to change
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DNA Replication

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

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 Gene Expression
4During transcription, an RNA molecule is
synthesized from a DNA template.
4This messenger RNA (mRNA) molecules
contains the information needed to synthesize
a polypeptide.
4During translation, the triplet codons in the
RNA specify the incorporation of particular
amino acids into a polypeptide chain.

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 The Proteome
4Proteome—the collection of all the
different proteins in an organism.
4Humans have between 20,000 and
25,000 genes in the genome and
hundreds of thousands of proteins in the
proteome.
4Proteomics—the study of all the
proteins in cells.

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 The Central Dogma of
Molecular Biology

4 The flow of information is DNA è RNAè protein.

4 Some viruses can use RNA as a template for the
synthesis of DNA in reverse transcription.
4 Many genes do not encode polypeptides; their end-
products are RNA molecules.
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 Mutation:
Changing Genetic Information

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 Key Points
4When DNA replicates, each strand of a duplex
molecule serves as the template for the
synthesis of a complementary strand.
4When genetic information is expressed, one
strand of a gene’s DNA duplex is used as a
template for the synthesis of a complementary
strand of DNA.
4For most genes, RNA synthesis (transcription)
generates a molecule (the RNA transcript) that
becomes a messenger RNA (mRNA).
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 Key Points
4Coded information in an mRNA is
translated into a sequence of amino
acids in a polypeptide.
4Mutations can alter the DNA sequence
of a gene.
4The genetic variability created by
mutation is the basis for biological
evolution.

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 Genetics and Evolution
4Variation in the DNA sequence makes it
possible for species to evolve over time.
4Organisms with similar DNA sequences
are descended from a common
ancestor.

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 A phylogenetic tree

4A phylogenetic
tree, or phylogeny,
represents the
historical
relationships among
organisms.

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 Key Points
4Evolution depends on the occurrence,
transmission, and spread of mutant
genes in groups of organisms.
4DNA sequence data provide a way of
studying the historical process of
evolution.

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Levels of Genetic Analysis

Geneticists approach their science

from different points of view—from
that of a gene, a DNA molecule,
or a population of organisms.

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 Classical Genetics
4Based on analysis of the outcomes of
crosses between different strains of
organisms.
4Can be coordinated with studies of the
structure and behavior of chromosomes.
4Encompasses transmission genetics and
studies of the nature of the genetic material

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 Molecular Genetics
4Studies the replication, expression, and
mutation of genes at the molecular
level.
4Rooted in the study of DNA sequences
and the manipulation of DNA molecules.

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 Population Genetics
4Individuals within a population may
carry different alleles of genes.
4Population genetics is based on
analyzing allele frequencies in a
population and determining whether
these frequencies changes over time.
4Population genetics includes evolution
and the inheritance of complex traits.

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 Key Points
4In classical genetic analysis, genes are
studied by following the inheritance of traits in
crosses between different strains of an
organism.
4In molecular genetic analysis, genes are
studied by isolating, sequencing, and
manipulating DNA and by examining the
products of gene expression.
4In population genetic analysis, genes are
studied by assessing the variability among
individuals in a group of organisms.
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 Genetics in the World:
Applications of Genetics to
Human Endeavors
Genetics is relevant in many
venues outside the research
laboratory.

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Genetics in Agriculture:
Selective Breeding

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 Genetics in Agriculture:
Genetically Modified Organisms
4Genetically
Modified
Organisms (GMOs)
are have been
altered by the
introduction of
foreign genes.

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

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 Genetics in Society
4Economic impact—biotechnology
industry, pharmaceutical industry.
4Legal impact—paternity testing,
forensics, identification
4Philosophical impact

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 Key Points
4Discoveries in genetics are changing
procedures and practices in agriculture
and medicine.
4Advances in genetics are raising
ethical, legal, political, social, and
philosophical questions.

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