Genetics of Athletic Ability - Science in the...

Heather Landry

DayCon 2016

Genetics of Athletic Ability:Is athletic performance encoded in your DNA?

What contributes to athletic ability?

Yao Ming: Keith Allison via Wikimedia CommonsGymnast: Pierre-Yves Beaudouin via Wikimedia CommonsAtsede Baysa: Benjamin Lipsman

Roadmap

1. What is genetics?

2. Is athletic ability inherited?

3. Which genes influence to athletic ability?

Every cell has the same DNA sequence

Adapted from the National Human Genome Research Institute

DNA Cell

Nucleus Chromosome

DNA guides protein production

DNA

Gene

protein

RNA

function

DNA changes influence protein function

DNA

protein

RNA

red blood cell

Red blood cells: adapted fromBruceBlaus via wikimedia commons

Questions?

DNA gets inherited from parents to children

Image adapted from Thomas Shafee via Wikimedia commons

Twins can be used to understand whether athletic ability is inherited

Bryan brothers: Boss Tweed via Wikimedia commons

Identical twins have identical DNA

Twins: Trlkly via Wikimedia commons

Identical twins Fraternal twins

Sperm

Egg

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

Questions?

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

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

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

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

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

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

erythropoietin receptor (EPOR)Signals the production of red blood cells

EPO

Red blood cells

EpoR

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.

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.

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