kristin kohlmann - the gene for speed:...
TRANSCRIPT
![Page 1: Kristin Kohlmann - The Gene for Speed: ACTN3kohlmanngen677s13.weebly.com/uploads/1/6/8/8/16889088/...What is ACTN3? What makes it so interesting? Does climate effect the ACTN3 protein?](https://reader034.vdocument.in/reader034/viewer/2022042307/5ed37c75847f87317f77c04f/html5/thumbnails/1.jpg)
Kristin Kohlmann
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http://www.mrhdwallpaper.com/usain-bolt-new-hd-wallpapers/
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What is ACTN3?
What makes it so interesting?
Does climate effect the ACTN3 protein?
How does ACTN3 confer an advantage?
Why should we care?
Where should we go from here?
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Fast twitch muscle fibers
Aids in contraction
Two variants in human populations
http://www.3quarksdaily.com/3quarksdaily/2008/12/race-genes-and-sports.html
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What is ACTN3?
What makes it so interesting?
Does climate effect the ACTN3 protein?
How does ACTN3 confer an advantage?
Why should we care?
Where should we go from here?
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http://palscience.com/science/humans-are-hard-wired-to-run/#.UYvNNMo2Tvg
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25 %
http://en.wikipedia.org/wiki/File:Flag_of_Sweden.svg https://en.wikipedia.org/wiki/File:Flag_of_Nigeria.svg https://en.wikipedia.org/wiki/File:Flag_of_the_People%27s_Republic_of_China.svg
0 % 16 %
Sweden China Nigeria (Yorubu)
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ACTN3 XX genotype is more fit during times of famine
http://en.wikipedia.org/wiki/File:Protein_ACTN3_PDB_1tjt.png
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What is ACTN3?
What makes it so interesting?
Does climate effect the ACTN3 protein?
How does ACTN3 confer an advantage?
Why should we care?
Where should we go from here?
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People and animals in different climates would have different ACTN3 proteins due to ACTN3’s perceived role in glucose metabolism.
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Phosphorylates Tyrosine amino acids
Glucose transport
http://en.wikipedia.org/wiki/File:Protein_SORBS1_PDB_2dl3.png
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http://www.nature.com.ezproxy.library.wisc.edu/ng/journal/v39/n10/full/ng2122.html
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XX ACTN3
SORBS1
Glycogen Phosphorylase
Change in Muscle
Structure
Glucose
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Null ACTN3 genotype decreases the phosphorylation of glycogen phosphorylase which decreases enzyme activity.
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ACTN3 +/+ ACTN3 -/-
Glycogen
Breakdown GPh
Fatty Acid
Oxidation MCAD
Muscle
Structure ACTN2
Tyrosine
Phosphorylation SORBS1
High Low
Expression Level
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200
140
100
80
50
30
Lane 2: ACTN3 -/-
Lane 3: ACTN3 +/+
Lane 4: ACTN3 -/+
Lane 1: Ladder 1 2 3 4
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ACTN+/+ ACTN-/- Mutant
Enzyme Activity
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What is ACTN3?
What makes it so interesting?
Does climate effect the ACTN3 protein?
How does ACTN3 confer an advantage?
Why should we care?
Where should we go from here?
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Better understanding of selective forces in evolution
Basis for “modern” diseases
Increase our understanding of what it means to be human
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Study the relationship between ACTN3 XX and ethnic groups with history of famine
The migration of ACTN3 X allele in relation to human migration out of Africa
ACTN3 genotypes in relation to modern diseases
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1. Macur J. (2008). Born to Run? Little Ones Get Tested for Sports Gene. New York Times. http://www.nytimes.com/2008/11/30/sports/30genetics.html?pagewanted=all&_r=0
2. Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, et al. (2003) ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics 73: 627–631.
3. Touchette N. (2003). Gene Influences Speed in Elite Athletes. Genome News Network. http://www.genomenewsnetwork.org/articles/08_03/speed.shtml
4. MacArthur DG, North KN. (2004). A gene for speed? The evolution and function of α-actinin 3. Bioessays. 2004 Jul;26(7):786-95
5. Mayne I. (2006) Examination of the ACE and ACTN3 Genes in UTC Varsity Athletes and Sedentary Students. University of Tennessee at Chattanooga, Biological and Environmental Sciences
6. North KN. (2008) Why is alpha-actinin-3 deficiency so common in the general population? The evolution of athletic performance. Twin Res Hum Genet. 2008 Aug;11(4):384-94. doi: 10.1375/twin.11.4.384.
7. North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, et al. (1999) A common nonsense mutation results in a-actinin-3 deficiency in the general population. Nature Genetics 21: 353–354.
8. . Gaston KJ (2007) Latitudinal gradient in species richness. Current Biology 17: R574–R574. doi: 10.1016/j.cub.2007.05.013.
9. Valentine JW (2006) Out of the tropics: evolutionary dynamics of the latitudinal diversity gradient. Science 314: 102–106. doi: 10.1126/science.1130880.
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0
5
10
15
20
25
30
0 2000 4000 6000 8000 10000
XX
allele
in a
pop
ula
tion (%
)
Approximate year agricultre was introduced (BC)
Sweden
Japan
Italy
Spain
Greece China
Native American
Ethiopia Iran
Papua New Guinea
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0
5
10
15
20
25
30
0 10 20 30 40 50 60 70
XX
allele
in a
pop
ula
tion (%
)
Latitude
Nigeria (Yoruba)
Kenya Bantu
Papua New Guinea
Ethiopia
Aboriginal Australian
Native American
Iran
China
Greece
Spain
Japan Italy
Russia
Sweden