One way to find SNPs associated with a certain trait is by comparing groups with different versions of that trait. In a GWAS looking for genes that affect dog fur color, for example, we could compare the SNPs of two groups: dogs with black fur and dogs with white fur. We would then determine which SNPs are significantly more common in dogs with black fur compared to dogs with white fur. These SNPs are "markers" for regions of the dog genome that contain genes affecting fur color. 3. Why do you think SNPs are referred to as "markers" or "signposts"? Figure 3 shows several possibilities for why a SNP is associated with a certain trait. The SNP may be in the gene that causes the trait or in a regulatory area for that gene. If so, the SNP could directly affect the gene's function and the resulting trait. However, some SNPs in or near a gene may have no effect on the gene or its trait. www.Biolnteractive.org hhmi BioInteractive Mapping Genes to Traits in Dogs Using SNPs Associated SNPs outside of gene a. no effect on protein production or function Associated SNPs within gene no effect on protein production or function Regulatory sequences Coding region с Noncoding SNP: changes amount of protein produced T Causative SNPs within gene Unassociated SNP far from gene on same chromosome or different chromosome Protein Coding SNP: changes amino acid sequence b. Which types of SNPs might be identified in a GWAS? T Updated November 2020 Page 2 of 7 Activity Student Handout 4. Consider the different types of SNPs shown in Figure 3: associated, unassociated, and causative (including both noncoding and coding). Which types of SNPs affect protein production or function for the gene of interest? Figure 3. A diagram showing various ways in which a SNP could be associated with a certain gene and its trait. GWAS in the News Read the following news release, which describes a GWAS study with dogs. Note that a dog's coat refers to its fur or hair. Variants in Three Genes Account for Most Dog Coat Differences Variants in just three genes acting in different combinations account for the wide range of coat textures seen in dogs from the poodle's tight curls to the beagle's stick-straight fur. A team led by researchers from the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, reports these findings today in the advance online issue of the journal Science. "This study is an elegant example of using genomic techniques to unravel the genetic basis of biological diversity," said NHGRI Scientific Director Eric Green, M.D., Ph.D. "Genomics continues to gain new insights from the amazing morphological differences seen across the canine species, including many that give clues about human biology and disease." coats of Until now, relatively little was known about the genes influencing the length, growth pattern and texture of the . The researchers performed a genome-wide scan of ecific signposts of DNA called single nucleotide polymorphisms, in 1,000 individual dogs representing 80 breeds. These data were compared with descriptions of various coat types. Three distinct genetic variants emerged to explain, in combination, virtually all dog hair types. "What's important for human health is the way we found the genes involved in dog coats and figured out how

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Question
Step 1
The branch of Biological Sciences that deals with the study of genome is known as Genomics. The
genome is the complete set of genetic information present in an organism.
As per the guidelines, the answers for the first 3 questions are being provided here. The student is
requested to upload the remaining questions separately.
Step 2
Question 1:
GWAS or Genome-wide Association Study is a method for identifying the genes that are responsible for
giving an organism its phenotype. This method is very useful because -
• It provides information on the SNPs that need our attention in order to know about the genetic risk
for a particular condition in an organism.
• The SNP identification makes it possible to understand the mechanisms that might cause the
genetic risk and also might provide a scope to clarify the differences between the alleles.
• This method can find genomic variants that cause a particular trait or disease in an individual.
GWAS can solve problems such as -
Finding out genes associated with a particular complex disease.
Screening a large number of SNPs from the entire genome of an individual.
Understanding the underlying mechanisms of disease in a better way, from genetic point of view.
Question 2:
The three combinations of alleles (C and A) that a dog could have for the SNP shown in Fig.2 are -
i) CC, ii) AA and iii) CA.
Question 3:
SNPs are referred to as "markers" or "signposts" because they are majorly used as Biological Markers.
Biological markers are those which help detect a biologic state. The SNPs work very efficiently to locate
or detect the genes that are supposedly associated with a particular disease, that the scientist is trying
to understand. The SNPs are present throughout the genome, and in a stable state. This makes them
function as excellent biomarkers. Besides, SNPs are capable of tracking the inheritance of disease-
associated genetic variants that flow within different families. Due to these reasons, SNPs are referred to
as "markers" or "signposts".
One way to find SNPs associated with a certain trait is by comparing groups with different versions of that trait.
In a GWAS looking for genes that affect dog fur color, for example, we could compare the SNPs of two
groups: dogs with black fur and dogs with white fur. We would then determine which SNPs are significantly
more common in dogs with black fur compared to dogs with white fur. These SNPs are "markers" for regions
of the dog genome that contain genes affecting fur color.
3. Why do you think SNPs are referred to as "markers" or "signposts"?
Figure 3 shows several possibilities for why a SNP is associated with a certain trait. The SNP may be in the gene
that causes the trait or in a regulatory area for that gene. If so, the SNP could directly affect the gene's function
and the resulting trait. However, some SNPs in or near a gene may have no effect on the gene or its trait.
www.Biolnteractive.org
hhmi Biolnteractive
Mapping Genes to Traits in Dogs Using SNPs
Associated SNPs
outside of gene
no effect on protein
production or function
T
G
Associated SNPs
within gene
no effect on protein
production or function
Regulatory sequences
A
Coding region
C
Noncoding SNP:
changes amount of
protein produced
Causative SNPs
within gene
Unassociated SNP
far from gene
on same chromosome. T
or different chromosome
Protein
Coding SNP:
changes amino
acid sequence
b. Which types of SNPs might be identified in a GWAS?
Updated November 2020
Page 2 of 7
Activity
Student Handout
Figure 3. A diagram
showing various ways
in which a SNP could be
associated with a
certain gene and its
trait.
4. Consider the different types of SNPs shown in Figure 3: associated, unassociated, and causative (including
both noncoding and coding).
a. Which types of SNPs affect protein production or function for the gene of interest?
GWAS in the News
Read the following news release, which describes a GWAS study with dogs. Note that a dog's coat refers to its
fur or hair.
Variants in Three Genes Account for Most Dog Coat Differences
Variants in just three genes acting in different combinations account for the wide range of coat textures seen in
dogs from the poodle's tight curls to the beagle's stick-straight fur. A team led by researchers from the
National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, reports these
findings today in the advance oniine issue of the journal Science.
"This study is an elegant example of using genomic techniques to unravel the genetic basis of biological
diversity," said NHGRI Scientific Director Eric Green, M.D., Ph.D. "Genomics continues to gain new insights from
the amazing morphological differences seen across the canine species, including many that give clues about
human biology and disease."
Until now, relatively little was known about the genes influencing the length, growth pattern and texture of the
coats of dogs. The researchers performed a genome-wide scan of specific signposts of DNA variation, called
single nucleotide polymorphisms, in 1,000 individual dogs representing 80 breeds. These data were compared
with descriptions of various coat types. Three distinct genetic variants emerged to explain, in combination,
virtually all dog hair types.
"What's important for human health is the way we found the genes involved in dog coats and figured out how
Transcribed Image Text:Step 1 The branch of Biological Sciences that deals with the study of genome is known as Genomics. The genome is the complete set of genetic information present in an organism. As per the guidelines, the answers for the first 3 questions are being provided here. The student is requested to upload the remaining questions separately. Step 2 Question 1: GWAS or Genome-wide Association Study is a method for identifying the genes that are responsible for giving an organism its phenotype. This method is very useful because - • It provides information on the SNPs that need our attention in order to know about the genetic risk for a particular condition in an organism. • The SNP identification makes it possible to understand the mechanisms that might cause the genetic risk and also might provide a scope to clarify the differences between the alleles. • This method can find genomic variants that cause a particular trait or disease in an individual. GWAS can solve problems such as - Finding out genes associated with a particular complex disease. Screening a large number of SNPs from the entire genome of an individual. Understanding the underlying mechanisms of disease in a better way, from genetic point of view. Question 2: The three combinations of alleles (C and A) that a dog could have for the SNP shown in Fig.2 are - i) CC, ii) AA and iii) CA. Question 3: SNPs are referred to as "markers" or "signposts" because they are majorly used as Biological Markers. Biological markers are those which help detect a biologic state. The SNPs work very efficiently to locate or detect the genes that are supposedly associated with a particular disease, that the scientist is trying to understand. The SNPs are present throughout the genome, and in a stable state. This makes them function as excellent biomarkers. Besides, SNPs are capable of tracking the inheritance of disease- associated genetic variants that flow within different families. Due to these reasons, SNPs are referred to as "markers" or "signposts". One way to find SNPs associated with a certain trait is by comparing groups with different versions of that trait. In a GWAS looking for genes that affect dog fur color, for example, we could compare the SNPs of two groups: dogs with black fur and dogs with white fur. We would then determine which SNPs are significantly more common in dogs with black fur compared to dogs with white fur. These SNPs are "markers" for regions of the dog genome that contain genes affecting fur color. 3. Why do you think SNPs are referred to as "markers" or "signposts"? Figure 3 shows several possibilities for why a SNP is associated with a certain trait. The SNP may be in the gene that causes the trait or in a regulatory area for that gene. If so, the SNP could directly affect the gene's function and the resulting trait. However, some SNPs in or near a gene may have no effect on the gene or its trait. www.Biolnteractive.org hhmi Biolnteractive Mapping Genes to Traits in Dogs Using SNPs Associated SNPs outside of gene no effect on protein production or function T G Associated SNPs within gene no effect on protein production or function Regulatory sequences A Coding region C Noncoding SNP: changes amount of protein produced Causative SNPs within gene Unassociated SNP far from gene on same chromosome. T or different chromosome Protein Coding SNP: changes amino acid sequence b. Which types of SNPs might be identified in a GWAS? Updated November 2020 Page 2 of 7 Activity Student Handout Figure 3. A diagram showing various ways in which a SNP could be associated with a certain gene and its trait. 4. Consider the different types of SNPs shown in Figure 3: associated, unassociated, and causative (including both noncoding and coding). a. Which types of SNPs affect protein production or function for the gene of interest? GWAS in the News Read the following news release, which describes a GWAS study with dogs. Note that a dog's coat refers to its fur or hair. Variants in Three Genes Account for Most Dog Coat Differences Variants in just three genes acting in different combinations account for the wide range of coat textures seen in dogs from the poodle's tight curls to the beagle's stick-straight fur. A team led by researchers from the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, reports these findings today in the advance oniine issue of the journal Science. "This study is an elegant example of using genomic techniques to unravel the genetic basis of biological diversity," said NHGRI Scientific Director Eric Green, M.D., Ph.D. "Genomics continues to gain new insights from the amazing morphological differences seen across the canine species, including many that give clues about human biology and disease." Until now, relatively little was known about the genes influencing the length, growth pattern and texture of the coats of dogs. The researchers performed a genome-wide scan of specific signposts of DNA variation, called single nucleotide polymorphisms, in 1,000 individual dogs representing 80 breeds. These data were compared with descriptions of various coat types. Three distinct genetic variants emerged to explain, in combination, virtually all dog hair types. "What's important for human health is the way we found the genes involved in dog coats and figured out how
7. Why do you think it is important to analyze the DNA of many dogs when doing this research?
8. Humans have SNPs too. In general, how might GWAS studies with dogs benefit humans?
PART 2: Applying GWAS to Dog Fur Color
Let's explore how a GWAS works using a simple example that compares two groups of dogs: dogs with black fur
and dogs with white fur. Table 1 shows the dogs' SNP alleles at 17 specific locations in the genome. These
specific locations in the genome are called loci (singular: locus). The SNP alleles at each locus are represented by
two nucleotides, one from each parental chromosome.
Table 1. SNP alleles at 17 different loci in dogs with black fur (first four rows) and dogs with white fur (last four rows).
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17
CC AT CC GG AA TCTT CC GG AA TT GT AG AA CC GG AT
*
3:3
CC AT AC GG GG TT TT CC GG AG TT GG AG AG CC GG AT
www.Biolnteractive.org
3:3
CC AA AC CG GG TT TT CT GG AA TT GT AG AG CC TT AT
3:3
CC AA AC GG AG TT TT CT GG GG TT GG AG AG CC GT AT
hhmi Biolnteractive
Mapping Genes to Traits in Dogs Using SNPs
CC AT CC CG AATTAA CT GG AA TTGT AA AA CC GT AT
Updated November 2020
Page 4 of 7
Activity
Student Handout
CC AT CC GG AATTAA TC GG AA TT GG AG AA CC GG TT
CC AT CC GG AATTAA CC GG AA TT GG AA AA CC GT AT
CC AA CC GG AG TTAA TC GG GG TT GG AA AA CC TT AT
If a SNP is found much more frequently in dogs with white fur than in dogs with black fur, the SNP is associated
with the white fur color.
9. Give two possible reasons for why a SNP would be associated with a trait like fur color.
To determine whether any of the SNPs in Table 1 are associated with fur color, you can compare the SNPs of the
dogs with black fur to those of the dogs with white fur. A SNP is completely associated with fur color if all
dogs with white fur share the same alleles at that position, and all dogs with black fur share different alleles
at that position. A SNP that is completely associated with a trait is likely located within or close to a gene
responsible for that trait.
10. Which SNP in Table 1 do you think is completely associated with fur color? Explain the reasoning for your
choice.
A SNP is completely unassociated with fur color if its alleles occur with equal frequency in dogs with black fur
and dogs with white fur. A SNP that is completely unassociated with a trait is unlikely to be located within or
near the gene responsible for that trait.
11. Which SNPs in Table 1 do you think are completely unassociated with fur color? Explain the reasoning for
your choices. (Hint: There are five in total.)
The other SNPs in Table 1 have varying strengths of association with fur color. You'll learn more about how to
evaluate the strength of an association in the next part of this activity. For the question below, make your best
guess based on what you've learned so far.
Transcribed Image Text:7. Why do you think it is important to analyze the DNA of many dogs when doing this research? 8. Humans have SNPs too. In general, how might GWAS studies with dogs benefit humans? PART 2: Applying GWAS to Dog Fur Color Let's explore how a GWAS works using a simple example that compares two groups of dogs: dogs with black fur and dogs with white fur. Table 1 shows the dogs' SNP alleles at 17 specific locations in the genome. These specific locations in the genome are called loci (singular: locus). The SNP alleles at each locus are represented by two nucleotides, one from each parental chromosome. Table 1. SNP alleles at 17 different loci in dogs with black fur (first four rows) and dogs with white fur (last four rows). 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 CC AT CC GG AA TCTT CC GG AA TT GT AG AA CC GG AT * 3:3 CC AT AC GG GG TT TT CC GG AG TT GG AG AG CC GG AT www.Biolnteractive.org 3:3 CC AA AC CG GG TT TT CT GG AA TT GT AG AG CC TT AT 3:3 CC AA AC GG AG TT TT CT GG GG TT GG AG AG CC GT AT hhmi Biolnteractive Mapping Genes to Traits in Dogs Using SNPs CC AT CC CG AATTAA CT GG AA TTGT AA AA CC GT AT Updated November 2020 Page 4 of 7 Activity Student Handout CC AT CC GG AATTAA TC GG AA TT GG AG AA CC GG TT CC AT CC GG AATTAA CC GG AA TT GG AA AA CC GT AT CC AA CC GG AG TTAA TC GG GG TT GG AA AA CC TT AT If a SNP is found much more frequently in dogs with white fur than in dogs with black fur, the SNP is associated with the white fur color. 9. Give two possible reasons for why a SNP would be associated with a trait like fur color. To determine whether any of the SNPs in Table 1 are associated with fur color, you can compare the SNPs of the dogs with black fur to those of the dogs with white fur. A SNP is completely associated with fur color if all dogs with white fur share the same alleles at that position, and all dogs with black fur share different alleles at that position. A SNP that is completely associated with a trait is likely located within or close to a gene responsible for that trait. 10. Which SNP in Table 1 do you think is completely associated with fur color? Explain the reasoning for your choice. A SNP is completely unassociated with fur color if its alleles occur with equal frequency in dogs with black fur and dogs with white fur. A SNP that is completely unassociated with a trait is unlikely to be located within or near the gene responsible for that trait. 11. Which SNPs in Table 1 do you think are completely unassociated with fur color? Explain the reasoning for your choices. (Hint: There are five in total.) The other SNPs in Table 1 have varying strengths of association with fur color. You'll learn more about how to evaluate the strength of an association in the next part of this activity. For the question below, make your best guess based on what you've learned so far.
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