2. 1-2
A Brief History
• What is molecular biology?
– The attempt to understand biological
phenomena in molecular terms
– The study of gene structure and function at
the molecular level
• Molecular biology is a melding of aspects
of genetics and biochemistry
3. 1-3
1.1 Transmission Genetics
• Transmission genetics deals with the
transmission of traits from parental
organisms to their offspring
• Chemical composition of genes not known
until 1944
– Gene
– Phenotype
4. 1-4
Mendel’s Laws of Inheritance
• A gene can exist in different forms called
alleles
• One allele can be dominant over the other,
recessive, allele
• The first filial generation (F1) contains
offspring of the original parents
• If each parent carries two copies of a
gene, the parents are diploid for that gene
5. 1-5
Mendel’s Gene Transmission
• Heterozygotes have one copy of each
allele
• Parents in 1st mating are homozygotes,
having 2 copies of one allele
• Sex cells, or gametes, are haploid,
containing only 1 copy of each gene
• Heterozygotes produce gametes having
either allele
• Homozygotes produce gametes having
only one allele
6. 1-6
The Chromosome Theory of
Inheritance
• Chromosomes are discrete physical entities
that carry the genes
• Thomas Hunt Morgan used the fruit fly,
Drosophila melanogaster, to study genetics
• Autosomes occur in pairs in a given
individual
• Sex chromosomes are identified as X and Y
– Female has two X chromosomes
– Male has one X and one Y chromosome
7. 1-7
Hypothetical Chromosomes
• Every gene has its place, or locus, on a
chromosome
• Genotype is the combination of alleles
found in an organism
• Phenotype is the visible expression of the
genotype
– Wild-type phenotype is the most common or
generally accepted standard
– Mutant alleles are usually recessive
8. 1-8
Genetic Recombination and
Mapping
• In early experiments genes on separate
chromosomes behaved independently
• Genes on the same chromosome behaved
as if they were linked
• This genetic linkage is not absolute
• Offspring show new combinations of
alleles not seen in the parents when
recombination occurs
9. 1-9
Recombination
• During meiosis, gamete formation,
crossing over can occur resulting in the
exchange of genes between the two
homologous chromosomes
• The result of the crossing-over event
produces a new combination of alleles
• This process is called recombination
10. 1-10
Genetic Mapping
• Morgan proposed that the farther apart
two genes are on a chromosome, the
more likely they are to recombine
• If two loci recombine with a frequency of
1%, they are said to be separated by a
map distance of one centimorgan (named
for Morgan)
• This mapping observation applies both to
bacteria and to eukaryotes
11. 1-11
Physical Evidence for
Recombination
• Microscopic examination of maize
chromosome provided direct physical
observation of recombination using easily
identifiable features of one chromosome
• Similar observations were made in
Drosophila
• Recombination was detected both
physically and genetically in both animals
and plants
12. 1-12
1.2 Molecular Genetics
• The Discovery of DNA: The general
structure of nucleic acids were found by the end
of the 19th century
– Long polymers or chains of nucleotides
– Nucleotides are linked by sugars through
phosphate groups
• Composition of Genes: In 1944, Avery and
his colleagues demonstrated that genes are
composed of nucleic acids
13. 1-13
The Relationship between
Genes and Proteins
• Experiments have shown that a defective
gene gives a defective or absent enzyme
• These lead to the proposal that one gene
is responsible for making one enzyme
• Proposal not quite correct
1. Enzyme may have several polypeptides,
each gene codes for only one polypeptide
2. Many genes code for non-enzyme proteins
3. End products of some genes are not
polypeptides
14. 1-14
Activities of Genes
Genes perform three major roles
• Replicated faithfully
• Direct the production of RNAs and
proteins
• Accumulate mutations thereby allowing
evolution
15. 1-15
Replication
• Franklin and Wilkins produced x-ray
diffraction data on DNA, Watson and Crick
proposed that DNA is double helix
– Two DNA strands wound around each other
– Strands are complementary – know the
sequence of one, automatically know the
sequence of the other
• Semiconservative replication keeps one
strand of the parental double helix conserved
in each of the daughter double helices
16. 1-16
Genes Direct the Production of
Polypeptides
• Gene expression is the process by which
a gene product is made
• Two steps are required
– Transcription: copy of DNA is transcribed into
RNA
– Translation: the RNA copy is read or
translated to assemble a protein
– Codon: a sequence of 3 nucleic acid bases
that stand for one amino acid
17. 1-17
Genes Accumulate Mutations
Genes change in several ways
• Change one base to another
• Deletions of one base up to a large
segment
• Insertions of one base up to a large
segment
• As the change is more drastic, it is more
likely that the gene or genes involved will
be totally inactivated
18. 1-18
1.3 The Three Domains of Life
Current research theories support the
division of living organisms into three
domains
1. Bacteria
2. Eukaryota
3. Archaea living in the most inhospitable regions of the
earth
• Thermophiles tolerate extremely high temperatures
• Halophiles tolerate very high salt concentrations
• Methanogens produce methane as a by-product of
metabolism
