Show:
Name That Gene
Methods
Results and Discussion
True or False
Application
100
The two genes this study newly found to be associated with skin color variation in Europeans.
What are UGT1A and BNC2
100
The specific population this study obtained photography and genotype data from.
What is Northern Europeans
100
Variants in the UGT1A gene lead to _____ skin hue (color).
What is yellow.
100
Skin color is an example of a continuous, multifactoral trait.
What is True
100
You have just received a grant to repeat this study. How would you minimize the the influence of sun exposure on skin color variation that you are observing?
Example: Obtain photographs from an area of the body that does not represent facultative skin color.
200
We studied two genes that influence eye color beginning of this semester. These two genes also influence skin color.
What are OCA2 and HERC2
200
This study is novel in that it used a ________ approach to detect genes associated with skin color variation.
What is continuous
200
The two primary limitations identified for this study.
What are photographs representing facultative skin color and restriction of SNP availability in the sample population.
200
Brightness (B) was excluded from the HSB color space for this study because it was constant in all the photographs.
What is False
200
Explain how this study could be used to for forensic applications.
Example: If several reliable genetic markers are identified and associated with specific skin color phenotypes, DNA evidence can be used to more accurately predict the skin color of crime suspects.
300
This gene is found on chromosome nine. In this study, SNPs in this gene were determined to be associated with variation in skin color saturation.
What is BNC2
300
A study in which common genetic variants in millions of individuals are studied in order to determine an association between the genetic varients and a particular trait.
What is genome-wide association study (GWAS)
300
The reason why the GATA3 gene was not found to have a significant impact on skin color variation.
What is GATA3 encodes for a transcription factor in the inflammatory pathway. GATA3 was found to be associated with red hue and inflamed skin is red.
300
One limitation of this study is that all photographs were taken of skin around the eye area, which means that skin variation in skin color was influenced by the environment and genetics.
What is True
300
You are interested in identifying new genes involved with eye color variaiton in individuals of Northern European descent. What experimental approach would be most useful to achieve this and why?
Example: A candidate gene study because many genes contributing to eye color variation have been discovered
400
This gene is found on chromosome two. In this study, SNPs in this gene were determined to be associated with variation in skin color hue.
What is UGT1A
400
In total, how many genes were assessed for association with skin color variation in this study?
What is 281 candidate genes
400
The two differences between male and female skin colors that were observed in this study
What is skin darkness and redness.
400
Genes previously identified as having an association with skin color showed greater statistical significance in their association with saturation (S) than with hue (H).
What is True
400
You received grant money to replicate this study in the United States. Briefly explain how you would choose to select the sample population.
Example: Select a large sample size (>5,000) of the same ancestral heritage.
500
A well-known pigmentation gene. Mutation in this gene is associated with the phenotype of pale skin and red hair, but not with eye color.
What is MC1R
500
In this type of plot genome coordinates are given along the x-axis and the logarithm for the p-value associated with each SNP is given along the y-axis.
What is a Regional Manhattan Plot
500
The reason why it is important that researchers looked at known skin color genes as well as new skin color genes
What is to help validate the experimental methods
500
The dominant/recessive model analysis performed in this study did not confirm previous findings about the recessive effects of MC1R contributing to red hair and light skin color.
What is False
500
Give two possible application of the findings in this study.
Example: Skin cancer research, forensic uses, a basis of an approach that could be replicated to assess skin color variation in other geographic populations, additional research in pigment variation (hair, eye, skin, etc.)