Welcome to BIO 303
Genetics!
Announcements:
1.
Sign in on attendance sheet
2.
Pick up class schedule and
syllabus
3.
If not registered for the
course, write name on sheet
of paper and talk to me after
class
Text/Readings
• Required Reading (Text):
– Essential Genetics 6th or 4th ed. by Dan Hartl
– Supplemental readings and videos will be
announced and posted on SUcourse
• Optional Readings
– The Gene by Siddhartha Mukherjee
– The Violinist’s Thumb by a New York Times
bestselling author Sam Kean
*Attendance in lab is mandatory. Note that your lab portion is worth ~40% of your grade!
Learning Objectives:
1. Describe how genetic information is used, stored,
and replicated, and how it informs phenotypes
2. Compare and contrast methods used to study
genetics, from the level of inheritance patterns,
through molecular analysis of single genes, to entire
genomes and the genetic analyses of populations
3. Test how genetics drives evolutionary change and
gene/environment relationships
Learning Objectives:
4. Interpret the results of genetic experiments and several
pieces of concepts to demonstrate how the mechanisms of
genetics operate
5. Construct new information you have about genetics in a
novel context
6. Relate the components of a genetic analysis to each other
7. Develop a novel molecular phylogenetic tree integrating
new genetic information with pre-existing genetic information
from GenBank (i.e. create something new by using/combining
disparate sources of information)
“Education is not the
filling of a pail.
Education is the lighting
of a fire.”
- W.B. Yeats
On the notecard, write down:
1. Your Last Name, First Name
2. Your preferred nickname & pronoun
3. A fact about you (that you don’t mind me asking
you more about)
Ex: a hobby, sport or instrument you play,
favorite pet, an intriguing fact…
4. A topic you’re particularly interested in learning
more about (on syllabus or not)
* Don’t forget to hand in your notecard at the end of class!
What can we learn from (advances in)
Genetics?
Humans and chimps are ~99% identical, but there
are 510 pieces of DNA missing from one of them –
which one?
A. Human
B. Chimp
Top Hat
Join Code: 485501
Loss of genomic regulatory regions
between chimp and humans
McClean et al., 2011
The AVPR1A gene
Encodes a receptor [R] (418 aa)
for the neuropeptide arginine vasopressin
Cys-Tyr-Phe-Gln-Asn-Cys-Pro-Arg-Gly
The AVPR1A gene
Encodes a receptor [R]
http://web.vir
ginia.edu/Hei
di/chapter34/
chp34.htm
One of these species of voles is
monogamous
Montane vole
Prairie vole
Meadow vole
The AVPR1A gene
A social behavior role in voles
Young et al (2010) Frontiers in Neuroendocrinology
- Variation in 5’ region of gene, correlated with behavior
- Transfer prairie vole gene into mice, become better
mates and fathers
The AVPR1A gene
No orthologous regulatory sequence in humans, but…
Human gene has three repeated sequences in 5’ region of gene—
these repeat regions can vary from person to person
The AVPR1A gene in humans
Human gene has three repeated
sequences in 5’ region of gene
One is called RS3 and has the
sequence (CT)4-TT-(CT)8-(GT)24
The AVPR1A gene
The study:
• 552 same-sex twins and their partners
• All had at least a 5-year relationship
• Genotype determined
• Interviewed about their relationship-Partner Bonding Scale (range from 5-66)
Walum et al (2008) PNAS 105: 14153-6
The AVPR1A gene
The results:
Association between PBS scores and RS3 allele
(p values)
males
females
0.001
0.27
So for males, a significant association
The AVPR1A gene
The results:
Average scores for males with # of RS3
alleles (allele 334)
0
1
2
48
46.3
45.4
Authors’ conclusion
The relatively small effect size of the AVPR1A polymorphism on
traits tentatively reflecting pair-bonding in males observed in this
study clearly does not mean that this polymorphism may
serve as a predictor of human pair-bonding behavior on the
individual level. However, by demonstrating a modest but
significant influence of this gene on the studied behavior on the
group level, we have provided support for the assumption that
previous studies on the influence of the gene coding for V1aR on
pair-bonding in voles are probably of relevance also for humans.
Walum et al (2008) PNAS 105: 14153-6
Two days later….
Genesis Biolabs offers the first genetic screen for marital
success!*
Screening for AVPR1a, known alternately as the
"ruthlessness" gene or the "bonding" gene, is likely an
indicator of marital happiness. Marriages born out of mutual
respect and mutual interest rather than self-interest are much
more likely to succeed and probably less likely to end in
divorce. Is your fiancé just after your money? Those with the
"ruthlessness" gene may very well be. Those with the
altruistic version of AVPR1a probably aren't. Ruthless people
will lie, cheat and steal to get what they want. Genetics may
not be a guaranteed indicator of human behavior and
motivation [genetics is only one half of the nature vs. nurture
debate] but genes don't lie. Before you make a lifetime
commitment, have your fiancé tested.
Order a Ruthlessness Gene Test : $99
How much does it currently cost to
sequence an entire human genome?
A.
B.
C.
D.
E.
$10,000
$5,000
$50,000
$1,000
$1
The rise of personal genomics!
• Companies
•
•
•
•
•
23andme
Veritas
Gentle
DeCodeMe
And many
others
• Projects
• Genographic project
• Personal genomics
project
• Many others…
Complex diseases results
From DeCodeMe
The accuracy in risk probability after
sequencing is typically low because:
A. Traits are polygenic
B. Genes might not be fully
penetrant
C. Genes might interact
with each other
(epistasis)
D. Environment interaction
E. We don’t know enough
F. All of above
Introducing Michael Snyder…
And his own iPOP
(“integrative personal omics profile”)
Snyderome homepage
Personal Genome Project homepage
Mike’s Genome:
Getting to know you…
What is the study of Genetics?
Pre-Class Questionnaire
(roughly 20 min)
Complete as Individual or Group where appropriate
gene (noun) A unit of heredity that is transferred from a parent to offspring
and is held to determine some characteristic of the offspring.
Source: the Google
If I could clone anybody I would clone…
ALS (Lou Gehrig’s disease) – Amyotrophic Lateral Sclerosis
•
•
•
•
One of the smartest people alive
“The Nature of Space and Time”
“A Brief History of Time”
Major contributions to Physics, Mathematics, Humanity
90% of ALS cases are spontaneous
Genetic Determination of Blood Types
Genetic Determination of Blood Types
Genetic Determination of Blood Types
A
O
B
O
AB
A
(1/4)
(1/4)
B
O
(1/4)
(1/4)
Genetic Determination of Traits in Humans is Complicated!
Eye Color – Complex Genetic (Continuous Variation)
Hair Color – Complex Genetic
Tongue Rolling – Maybe Genetic Contributing Factors
Blood Type – Simple Genetic
Height - Complex Genetic (Large Environmental Components)
Freckles – Simple Genetic (MC1R)
Ear Lobes – Complex Genetic (Continuous Variation)
Widow’s Peak – NO evidence of Genetic Factors (Continuous Variation)
What are the characteristics of DNA
that makes it a good means of
transmitting hereditary information?
Top Hat