BIOL 3005 Genetics

Spring 2016
Lecture 1
Course Overview

Todays Outline
Introduc)ons & A.endance
Syllabus
Overview of Gene)cs

Introduc3ons
Professor: Dr. Don Shepard
Oce: 305 CNSB
Email: shepard@ulm.edu

A5endance
A.endance sheet
Your responsibility to mark the sheet every class
period either before or aMer class.

Todays Outline
Introduc)ons & A.endance
Syllabus
Overview of Gene)cs

Syllabus
Posted on Moodle.
Be sure to look it over carefully to familiarize
yourself with course mechanics, policies,
schedule, and how you will be graded.

Textbook

Moodle
Lecture slides (pdf) will be posted shortly aMer
lectures.
1, 2, 3, or 6 slides per page?
Assignments & Readings will be posted.
Grades will be posted/updated aMer exams.

Todays Outline
Introduc)ons & A.endance
Syllabus
Overview of Gene)cs

Modern Gene3cs has Entered its Second Century

Humans have been working with gene)cs for over
10,000 years via selec)ve breeding (domes)ca)on)
Explora)on and understanding of the principles of
heredity is a more recent development

The First Century of Modern Gene3cs

A monk and amateur botanist named
Gregor Mendel published an explana)on
for how traits were transmi.ed in pea
plants in 1866
Mendels Principles of Inheritance
For reference, Darwins On the Origin of
Species was published in 1859

Mendels work was rediscovered in 1900

and started the eld of modern gene)cs

Major Subdisciplines of Gene3cs

Transmission gene3cs: principles of heredity and
how traits are passed on across genera)ons.
Molecular gene3cs: how gene)c informa)on is
encoded, replicated, and expressed.
Popula3on gene3cs: gene)c varia)on of
popula)ons across space and )me.
(change=evolu)on)

Genes and Chromosomes

Genes are the physical units of
heredity

originally posited by Mendel (par)cles)

now known to be dened DNA
sequences

Chromosomes are long molecules

of double-stranded DNA super-
coiled around proteins
Sexually reproducing organisms
usually have two copies of each
chromosome (diploid)
Genes are on chromosomes, which
means diploid organisms have two
copies of each gene

Alleles
Alleles: alterna)ve forms or variants of a gene

Each gene may have mul)ple alleles (2+) in a popula)on

Each allele encodes a slightly dierent gene product
Dierent products vary in how well they func)on
Each diploid individual can be:

Homozygous two gene copies are same allele (e.g., AA or aa)

Heterozygous two gene copies are dierent alleles (e.g., Aa)

Genotype and Phenotype

Genotype: the gene)c makeup of an organism
i.e., the allele combina)on for a given gene (e.g., Aa)
or mul)ple genes (e.g., AaBbCc)

Phenotype: the observable traits of an organism

i.e., what you see (e.g., red hair)

Natural selec)on acts on the phenotype, which is

determined by the underlying genotype
As one phenotype is favored over another, the
frequencies of alleles associated with each phenotype
change across genera)ons (= evolu)on).

Replica3on and Reproduc3on

Genes are transmi.ed from parent to ospring in
predictable pa.erns
The study of gene transmission is the founda)on of
gene)cs

Mitosis: cell division resul)ng in transmission of

two sets of chromosomes (diploid)
Meiosis: cell division resul)ng in transmission of
one set of chromosomes (haploid)
Produces gametes: sperm and eggs in animals and pollen
and eggs in plants

DNA is the Hereditary Material

Avery, MacLeod, and McCarty iden)ed
deoxyribonucleic acid (DNA) as the hereditary
material in 1944
During the 1950s, the structure and replica)on
mechanism of DNA were determined
The molecular structure of DNA was key to
understanding:
How it carries gene)c informa)on
How it is replicated

The DNA Double Helix

Watson and Crick
published the structure
of DNA in 1953
The structure was
described as a double
helix with sugar-
phosphate backbones
on the outsides and
nucleo)de bases
arrayed in
complementary pairs
toward the center
Discovery aided by work
of other researchers

Erwin Charga
Charga discovered that for most organisms
% adenine = % thymine
% guanine = % cytosine

This is known as Chargas Rule

Watson & Crick used Chargas rule to
hypothesize that nucleo)des are arranged as
complementary base pairs (A with T and C with G)

Rosalind Franklin
Rosalind Franklin, a biophysicist, used x-ray
dirac)on to examine the crystal structure of DNA
Watson & Crick used Franklins data to deduce
that the structure of DNA was a double helix

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DNA Nucleo3des
DNA nucleo3des are composed of a deoxyribose (5-
carbon) sugar, a phosphate group, and one of four
nitrogenous bases designated:
Adenine (A)
Guanine (G)
Thymine (T)
Cytosine (C)

Nucleo)des are linked together by a phosphodiester

bond between the 5 phosphate group of one
nucleo)de and the 3 hydroxyl of another

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Complementary Base Pairing

Complementary base pairing occurs between an A
on one strand and a T on the other strand, or a G on
one strand and a C on the other
Hydrogen bonds form between complementary base
pairs
The 5 and 3 designa)ons of the phosphate and
hydroxyl groups at the ends of the DNA strands
establish polarity

The two strands are an3parallel (i.e., theyre oriented in

opposite direc)ons)

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Understanding DNA Func3on

In the 1960s, the mechanisms of transcrip)on
and transla)on were determined
The gene)c code was deciphered
20 amino acids specied by 64 dierent codons, each
composed of 3 nucleo)des (a triplet code)
Really 61 codons=amino acid, and 3 codons=stop

Transcrip3on and Transla3on Express Genes

The Central Dogma of Biology describes the ow
of gene)c informa)on; originally proposed by
Francis Crick

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Genomes
By the 1980s, scien)sts began to study and compare
en)re genomes
Genome: the complete set of gene)c informa)on
carried by a species
Every gene on every chromosome
Their loca)on, structure, sequence, product, etc.

In 2001, a rst draM of the human genome was

published
~3.2 gigabases, ~20,000 genes

New technologies and resources are leading to rapid

discoveries and unprecedented understanding of life

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