genetics of athletic ability - science in the news
TRANSCRIPT
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Heather Landry
DayCon 2016
Genetics of Athletic Ability:Is athletic performance encoded in your DNA?
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What contributes to athletic ability?
Yao Ming: Keith Allison via Wikimedia CommonsGymnast: Pierre-Yves Beaudouin via Wikimedia CommonsAtsede Baysa: Benjamin Lipsman
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Roadmap
1. What is genetics?
2. Is athletic ability inherited?
3. Which genes influence to athletic ability?
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Every cell has the same DNA sequence
Adapted from the National Human Genome Research Institute
DNA Cell
Nucleus Chromosome
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DNA guides protein production
DNA
Gene
protein
RNA
function
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DNA changes influence protein function
DNA
protein
RNA
red blood cell
Red blood cells: adapted fromBruceBlaus via wikimedia commons
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Questions?
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DNA gets inherited from parents to children
Image adapted from Thomas Shafee via Wikimedia commons
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Twins can be used to understand whether athletic ability is inherited
Bryan brothers: Boss Tweed via Wikimedia commons
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Identical twins have identical DNA
Twins: Trlkly via Wikimedia commons
Identical twins Fraternal twins
Sperm
Egg
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Identical twins have similar athletic traits
Data extracted from Klissouras et al., 1971; VO2 max test: THWZ via wikimedia commons
Maximal Oxygen Uptake
0.00%
25.00%
50.00%
75.00%
100.00%
fraternal twins identidcaltwins
Sim
ilari
ty
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Questions?
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It is challenging to find the genes responsible for athletic ability
1. Humans have over 20,000 genes!
2. Multiple genes can contribute to a single trait.
3. External factors can also influence a trait.
Runners: Jmex via wikimedia commons
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Humans have been around for a long time
Campbell and Tishkoff, 2010
200 100 50 10 0
Thousands of years ago
Africa
Middle East / Europe
Australia / Melanesia
Asia
Americas
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Human population growth is very recent
7
6
5
4
3
2
1
10
Wo
rld
po
pu
lati
on
(b
illio
ns)
years ago (thousands)
8 6 4 2 0
commonmutation
raremutation
Graph: El T via census.gov
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alpha-actinin 3 (ACTN3)
Interacts with actin to help coordinate muscle contractions in fast twitch muscle fibers.
National Library of Medicine
Myofibril
Muscle fiber
Actin Myosin
slow twitch fast twitch
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A common mutation in ACTN3
• There is a mutation in the ACTN3 gene that is very common in the human population.
• This mutation causes complete loss of protein function.
R variant
X variant
DNA RNA protein
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ACTN3 is more commonly mutated in endurance athletes versus sprinters
Yang et al., 2003 “ACTN3 Genotype Is Associated with Human Elite Athletic Performance”
0
10
20
30
40
50
60
Freq
ue
ncy RR
RX
XX
sprintathletes
normalpeople
endurance athletes
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erythropoietin receptor (EPOR)Signals the production of red blood cells
EPO
Red blood cells
EpoR
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Eero Mäntyranta
• Finish cross-country skier who had a mutation in the EPOR gene that increased his red blood cell numbers.
• More red blood cells increases hemoglobin levels, oxygen intake, and endurance.
• Eero won 7 medals in 4 Winter Olympics.
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Conclusions
• Athletic ability can be an inherited trait.
• Both common variants (e.g. mutation in ACTN3) and rare variants (e.g. mutation in EPOR) can influence athletic ability.
• Many genes often work in combination and other elements (e.g. nutrition or environment) can contribute to athletic ability.
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Thank you!SITN would like to acknowledge the following
organizations for their generous support.
Harvard Medical SchoolOffice of Communications and External Relations
Division of Medical Sciences
The Harvard Graduate School of Arts and Sciences (GSAS)
The Harvard Graduate Student Council (GSC)
The Harvard Biomedical Graduate Students Organization (BGSO)
The Harvard/MIT COOP