1 Page | 1 Part 3 of worksheet #5 How did I get this face? Mike Tveten drawings by Chris Bondante Modified by Deborah Bird OBJ ECTIVES Apply the principles of segregation and independent assortment to the inheritance of human facial characteristics Determine the phenotypes and genotypes for yourself and your parents Define allele, gene, homozygous, heterozygous Define and give an example of dominant and recessive alleles, codominance, incomplete dominance, X-linked (sex-linked) traits, and polygenic traits
The purpose of this lab is to illustrate: 1. Mendel's Law of Segregation 2. Mendel's Law of Independent Assortment 3. the relationship between genotype and phenotype 4. a variety of patterns of inheritance
INTRODUCTION
As you learned when you studied meiosis in the last unit, you received one half of your genes from your mother and the other half from your father. The chromosomes went through segregation from one another when they separated and made sex cells. Each one of the sex cells carried a gene at a locus. When fertilization took place the homologous chromosomes were restored and a new set of genetic material was introduced into the egg from the sperm. The sperm cells were also segregated during meiosis and depending upon which egg was fertilized by what sperm actually gives you your individual genetic compliment called the genotype. Human variation happens not only because of the large number of traits that exist within our species, but also because of the random mixing of alleles that occurs during sexual reproduction. The expression of the genes which we see physically is called the phenotype.
There are many patterns of inheritance some are relatively simple and straightforward, while others are more complex. Many alleles (forms of a gene) are dominant, which means that they mask or hide the expression of other alleles, called recessive alleles. Recessive alleles are expressed only when their dominant counterparts are not present in other words, when we inherit two copies of the recessive allele, one from each parent. Remember, when we have two copies of the same allele, our genotype is homozygous for that trait.
For example if you have a round face and inherited a R from mom and a R from dad , you are homozygous dominant for that trait. Dominant traits can be expressed even if there is only one. The genotype Rr is still a round face. The large R is dominating the rs expression. Even though you are heterozygous (Rr) for the trait. Recessive alleles are expressed only in the homozygous condition (rr).
How did I get this face? Bio 100 Instructor Deborah Bird Worksheet #5
2 Page | 2 If our genotype carries one copy of the dominant trait and one copy of the recessive trait then it is called heterozygous. In individuals with two different alleles for a trait heterozygous for the trait), neither allele completely masks the presence of the other, and the result is a combination of both. Other traits show continuous variation throughout a population and do not result in a distinctly dominant or recessive phenotype. These traits are thought to be controlled by many genes and are called polygenic traits. Another kind of interaction between genes is called epistasis. An example of this is the interaction between the gene that codes for red hair and the gene that codes for dark versus blonde. Thus, a person may be a strawberry blonde, or have dark auburn hair, depending on how these two genes interact.
Some traits are carried on the X chromosome, and there is no counterpart on the Y chromosome. Because females have two X chromosomes, a recessive allele might be masked by the presence of a dominant allele. However, because males have only one X chromosome, recessive traits are often expressed since there is no other allele to mask them. These traits are called sex-linked, or more accurately, X-linked. Other traits may be found only on the Y chromosome, so they are found only in males. These traits, such as beard growth, are sex-limited , which means their expression is confined to one gender or the other (in this example, males).
Most of the traits used in this activity have been simplified and represent a simplified model. In this exercise you will be determining your phenotype and guessing at your genotype . The last column of the table in worksheet 5 is answered mother, father, or mixture. Before you do this exercise, you need to determine your phenotype, and make your best guess about your genotype
Unless you have an identical twin, you are unique! Your appearance (your phenotype) is determined by your genes (your genotype). Even people with the same parents have slightly different genotypes and therefore different phenotypes. (Remember synapsis in meiosis makes this possible.) Identical twins have identical genotypes because the fertilized egg splits after fertilization and grows another individual.
Filling out the Table Take a long, hard look at yourself in the mirror or have someone look at you. Then use the illustrations that follow to determine your phenotype for the illustrated traits, such as eye color, nose size, and freckles. Record your phenotype for each trait in Table 1 on worksheet number 5.
Then try to determine your genotype, and record your genotype in the table. In a simple dominant/recessive pattern of inheritance, if you show the recessive phenotype, you know that you are homozygous recessive for that trait. However, if you show the dominant phenotype, you may be homozygous or heterozygous. For this exercise, assume you are heterozygous (that is, you carry both the dominant and recessive alleles, unless the phenotype tells you the genotype. See the example below.
Remember -- PHENOTYPE is the PHYSICAL FEATURES -- what you see, such as "rounded face" or "cleft chin." GENOTYPE is the GENES (alleles) present that produce that phenotype. For example, if the phenotype is "rounded face," then the genotype is either "RR" or "Rr." You would use Rr for this exercise. For air texture, curly is How did I get this face? Bio 100 Instructor Deborah Bird Worksheet #5
3 Page | 3 CC, wavy is Cc, straight is cc. In this case we can tell the genotype from the phenotype.
Then, determine what alleles (gene form) will be in your gametes. Remember, if you are heterozygous for a trait such as Rr you can produce gametes with one or the other of your alleles, but not both in the same gamete. Remember that at the end of meiosis you have separated these gene forms into a different gamete. Each egg or sperm carries only one. For polygenic traits (ones in which two or more genes work together to create the phenotype) such as eye color (E + C genes, each with dominant and recessive alleles), list ALL the gamete combinations you can produce.
The following are illustrations to help you determine phenotypes and genotypes. (Phenotypes are what you see, such as a "rounded or squarish" face. Genotypes are the alleles, such as "RR" or "Rr" or "rr.")
1. Face shape (compare cheekbone width and jawbone width)
Rounded (RR or Rr square (rr
2. Chin prominence
Prominent (CC or Cc) less prominent (cc)
3. Chin shape
Round (RR or Rr square (rr
How did I get this face? Bio 100 Instructor Deborah Bird Worksheet #5
4 Page | 4
4. Cleft chin
No cleft (CC or Cc) cleft (cc)
5. Ear size (incomplete dominance)
Large (EE) medium (Ee) small (ee)
6. Ear lobes
Free (FF or Ff) attached (ff)
7. Hairy ears (sex-linked on Y chromosome) This affects the child ONLY if he is male. This gene is on the Y chromosome. If the father has hairy ears, the child will have hairy ears. Females dont have a Y chromosome. (Sorry, guys.)
Hair present (XY H ) hair absent (XY h ) How did I get this face? Bio 100 Instructor Deborah Bird Worksheet #5
5 Page | 5
8. Hair texture (incomplete dominance)
Curly (CC) wavy (Cc) straight (cc)
9. Widows peak
Present (WW or Ww) absent (ww)
10. Hair color (polygenic) Several different genes interact to produce hair color. It is still not clear exactly how many genes are involved, but for this exercise, we will assume that there are four genes (A/a, B/b, C/c. D/d). The more dominant alleles you have, the darker your hair color.
8 dominant alleles = black
3 dominant alleles = dark blonde
7 dominant alleles = very dark brown
2 dominant alleles = blonde
6 dominant alleles = dark brown
1 dominant allele = very light blonde
5 dominant alleles = brown
0 dominant alleles = almost white blonde
4 dominant alleles = light brown
11. Eye size (incomplete dominance) How did I get this face? Bio 100 Instructor Deborah Bird Worksheet #5
6 Page | 6
Large (BB) medium (Bb) small (bb)
12. Eye shape
Almond/wide (AA or Aa) round/narrow (aa)
13. Eye slant
Horizontal (HH or Hh) upward slant (hh)
14. Eye distance (incomplete dominance)
Close together (DD) medium (Dd) far apart (dd)
15. Eye lashes
Long (LL or Ll) short (ll)
16. Eye color (polygenic) How did I get this face? Bio 100 Instructor Deborah Bird Worksheet #5
7 Page | 7 Again, we have a polygenic trait for which the exact pattern of inheritance is not clear. We will assume that two genes are involved. The first gene (E/e) determines the pigment at the front of the iris. The second gene (C/c) determines the color at the back of the iris.
EECC = almost black
Eecc = gray-blue
EECc = dark brown
eeCC = green
EEcc = brown
eeCc = dark blue
EeCC = brown with green flecks eecc = light blue
EeCc = hazel
17. Eyebrow thickness (bushiness)
Bushy (BB or Bb) fine (bb)
18. Eyebrow separation
Not connected (GG or Gg) connected (gg)
19. Eyebrow color (incomplete dominance)
Darker than hair (WW) same as hair (Ww) lighter than hair (ww)
20. Mouth length (incomplete dominance) How did I get this face? Bio 100 Instructor Deborah Bird Worksheet #5
Very protruding (HH) slightly protruding (Hh) absent (hh)
23. Lip color (incomplete dominance)
Red (RR) rosy pink (Rr) light pink (rr)
24. Dimples
Present (DD or Dd) absent (dd)
25. Nose size (incomplete dominance) How did I get this face? Bio 100 Instructor Deborah Bird Worksheet #5
9 Page | 9
Big (NN) medium (NN) small (NN)
26. Nose shape
Rounded (RR or Rr) pointed (rr)
27. Nostril shape
Rounded (RR or Rr) pointed (rr)
28. Freckles on cheeks
Present (FF or Ff) absent (ff)
29. Freckles on forehead
Present (FF or Ff) absent (ff)
30. Skin color (polygenic) How did I get this face? Bio 100 Instructor Deborah Bird Worksheet #5
10 Page | 10
We know that several genes, perhaps as many as seven, contribute to skin color. For this exercise, assume that there are three genes involved (A/a, B/b, C/c). The number of dominant alleles determines skin color (we use the underside of the upper arm to determine skin color, since this area seldom is exposed to sun).
6 dominant alleles = very dark black 5 dominant alleles = very dark brown 4 dominant alleles = dark brown 3 dominant alleles = medium brown 2 dominant alleles = light brown 1 dominant allele = fair 0 dominant alleles = very fair