1.

Why are the viruses that infect mammalian cells useful for studying the genetics of
mammals?

It is thought that viruses must have evolved after their host cells, since a host is required
for viral reproduction. Viral genomes are closely related to their host genomes. The close
relationship between a mammalian virus and its mammalian cell host, along with the simpler
structure of the viral particle, make it useful in studying the genetics of mammals. The viral
genome will have a similar structure to the mammalian cell host, but since it has fewer genes,
it will be easier to decipher the interactions and regulation of the viral genes.

2. List three fundamental events that must take place in cell reproduction.

(1) A cell’s genetic information must be copied.

(2) The copies of the genetic information must be separated from one another.

(3) The cell must divide.

3. What are the genetically important results of the cell cycle?

In this process, one cell produces two cells that contain the same genetic information. In
other words, the cells are identical to each other to the mother cell.

4. What are checkpoints? What two general classes of compounds regulate progression
through the cell cycles?

Checkpoints function to ensure that all the cellular components, such as important proteins
and chromosomes, are present and functioning before the cell moves to the next stage of the
cell cycle. If components are missing or not functioning, the checkpoint will prevent the cell
from moving to the next stage. The checkpoints prevent defective cells from replicating and
malfunctioning.

Two types of proteins are responsible for movement through the cell cycle: cyclin and
cyclin-dependent kinases.

5. What is the relation between the terms allele, locus, gene, and genotype?

We have defined a gene as a genetic factor that determines a characteristic. An allele is

one of the alternative forms of the gene. The locus refers to the specific place on a
chromosome where a gene or an allele is located. Finally, the genotype refers to the set of
genes (or alleles) that an individual possesses.
6. What is the concept of dominance? How does dominance differ from incomplete
dominance?

The concept of dominance states that when two different alleles are present in a
genotype, only the dominant allele is expressed in the phenotype. Incomplete dominance
occurs when different alleles are expressed in a heterozygous individual, and the resulting
phenotype is intermediate to the phenotypes of the two homozygotes.

7. What is the principle of independent assortment? How is it related to the principle of

segregation?

According to the principle of independent assortment, genes for different characteristics

and at different loci segregate independently of one another. Essentially, the principle of
independent assortment is an extension of the principle of segregation. The principle of
segregation indicates that the two alleles at a locus separate; the principle of independent
assortment indicates that the separation of alleles at one locus is independent of the
separation of other pairs at other loci.

8. How is the goodness-of-fit chi-square test used to analyze genetic crosses? What does
the probability associated with a chi-square value indicate about the results of a cross?

The goodness-of-fit chi-square test is a statistical method used to evaluate the role of
chance in causing deviations between the observed and the expected numbers of offspring
produced in a genetic cross. The probability value obtained from the chi-square table refers to
the probability that random chance produced the deviations of the observed numbers from
the expected numbers.

9. Explain how dominance and epistasis differ.

Dominance is an allelic interaction of two alleles of a single gene or locus, in which the
phenotype corresponds only to the dominant allele. Epistasis results from the interaction of
two or more genes or loci, in which the phenotype of the organism is governed by the
genotype at the epistatic gene or locus, masking the genotype of the other.

10. What is a complementation test and what is it used for?

Complementation tests are used to determine whether different recessive mutations

affect the same gene or locus (are allelic) or whether they affect different genes. The two
mutations are introduced into the same individual by crossing homozygotes for each of the
mutants. If the progeny show a mutant phenotype, then the mutations are allelic (in the same
gene). If the progeny show a wild-type (dominant) phenotype, then the mutations are in
different genes and are said to complement each other because each of the mutant parents
can supply a functional copy (or dominant allele) of the gene mutated in the other parent.

11. What characteristics do you expect to see in a trait that exhibits anticipation?

Traits that exhibit anticipation become stronger or more pronounced, or are expressed
earlier in development, as they are transmitted to each succeeding generation.

12. What is the difference between genetic maternal effect and genomic imprinting?

In genetic maternal effects, the phenotypes of the progeny are determined by the
genotype of the mother only. The genotype of the father and the genotype of the affected
individual have no effect. In genomic imprinting, the phenotype of the progeny differs based
on whether a particular allele is inherited from the mother or the father. The phenotype is
therefore based on both the individual’s genotype and the paternal or maternal origins of the
genotype.

13. What does the term recombination mean? What are two causes of recombination?

Recombination means that meiosis generates gametes with different allelic combinations than
the original gametes the organism inherited. If the organism was created by the fusion of an
egg bearing AB and a sperm bearing ab, recombination generates gametes that are Ab and aB.
Recombination may be caused by loci on different chromosomes that sort independently or by
a physical crossing over between two loci on the same chromosome, with breakage and
exchange of strands of homologous chromosomes paired in meiotic prophase I.

14. In a testcross for two genes, what types of gametes are produced with (a) complete
linkage, (b) independent assortment, and (c) incomplete linkage?

(a) Complete linkage of two genes means that only non-recombinant gametes will be
produced; the recombination frequency is zero.

(b) Independent assortment of two genes will result in 50% of the gametes being recombinant
and 50% being non-recombinant, as would be observed for genes on two different
chromosomes. Independent assortment may also be observed for genes on the same
chromosome, if they are far enough apart that one or more crossovers occur between them in
every meiosis.

(c) Incomplete linkage means that greater than 50% of the gametes produced are non-
recombinant and less than 50% of the gametes are recombinant; the recombination frequency
is greater than 0 and less than 50%.
15. Why is the frequency of recombinant gametes always half the frequency of crossing
over?

Crossing over occurs at the four-strand stage, when two homologous chromosomes, each
consisting of a pair of sister chromatids, are paired. Each crossover involves just two of the
four strands and generates two recombinant strands. The remaining two strands that were
not involved in the crossover generate two non-recombinant strands. Therefore, the
frequency of recombinant gametes is always half the frequency of crossovers.

16. Explain how one can determine which of three linked loci is the middle locus from the
progeny of a three-point testcross.

Double crossovers always result in switching the middle gene with respect to the two
nonrecombinant chromosomes. Hence, one can compare the two double crossover
phenotypes with the two non-recombinant phenotypes and see which gene is reversed. In the
diagram on the facing page we see that the coupling relationship of the middle gene is flipped
in the double crossovers with respect to the genes on either side. So whichever gene on the
double crossover can be altered to make the double crossover resemble a non-recombinant
chromosome is the middle gene. If we take either of the double crossover products l M r or L
m R, changing the M gene will make it resemble a non-recombinant.

l m r l M r

L M R L m R

17. What does the interference tell us about the effect of one crossover on another?

A positive interference value results when the actual number of double crossovers
observed is less than the number of double crossovers expected from the single crossover
frequencies. Thus positive interference indicates that a crossover inhibits or interferes
with the occurrence of a second crossover nearby.

Conversely, a negative interference value, where more double crossovers occur than
expected, suggests that a crossover event can stimulate additional crossover events in the
same region of the chromosome.
18. Describe the composition and structure of the nucleosome. How do core particles differ
from chromatosomes?

The nucleosome core particle contains two molecules each of histones H2A, H2B, H3, and
H4, which form a protein core with 145-147 bp of DNA wound around the core.
Chromatosomes contain the nucleosome core with a molecule of histone H1

19. Describe the function and molecular structure of the centromere.

Centromeres are the points of attachment for mitotic and meiotic spindle fibers and are
required for the movement of chromatids to the poles in anaphase. Centromeres have
distinct centromeric DNA sequences where the kinetochore proteins bind. For some
species, like yeast, the centromere is compact, consisting of only 125 bp. For other
species, including Drosophila and mammals, the centromere is larger, comprising several
kilobasepairs of DNA sequence.

20. Describe the function and molecular structure of a telomere.

Telomeres are the ends of the linear chromosomes in eukaryotes. They cap and stabilize
the ends of the chromosomes to prevent degradation by exonucleases or joining of the
ends. Telomeres also enable replication of the ends of the chromosome. Telomeric DNA
sequences consist of repeats of a simple sequence, usually in the form of 5'Cn(A/T)m.

21. How does supercoiling arise? What is the difference between positive and negative
supercoiling?

Supercoiling arises from:

(1) Overwinding (positive supercoiling) or underwinding (negative supercoiling) the DNA

double helix.

(2) When the DNA molecule does not have free ends, as in circular DNA molecules.

(3) When the ends of the DNA molecule are bound to proteins that prevent them from
rotating about each other.
22. Why do extra copies of genes sometimes cause drastic phenotypic effects?

The expression of some genes is balanced with the expression of other genes; the ratios
of their gene products, usually proteins, must be maintained within a narrow range for
proper cell function. Extra copies of one of these genes cause that gene to be expressed
at proportionately higher levels, thereby upsetting the balance of gene products.

23. How do inversions cause phenotypic effects?

Although inversions do not result in loss or duplication of chromosomal material,

inversions can have phenotypic consequences if the inversion disrupts a gene at one of its
breakpoints or if a gene near a breakpoint is altered in its expression because of a change
in its chromosomal environment, such as relocation to a heterochromatic region. Such
effects on gene expression are called position effects.

24. How do translocations produce phenotypic effects?

Like inversions, translocations can produce phenotypic effects if the translocation

breakpoint disrupts a gene or if a gene near the breakpoint is altered in its expression
because of relocation to a different chromosomal environment (a position effect).

25. What is the difference between primary Down syndrome and familial Down syndrome?
How does each arise?

Primary Down syndrome is caused by spontaneous, random nondisjunction of

chromosome 21, leading to trisomy 21. Familial Down syndrome most frequently arises as
a result of a Robertsonian translocation of chromosome 21 with another chromosome,
usually chromosome 14. Translocation carriers do not have Down syndrome, but their
children have an increased incidence of Down syndrome. If the translocated chromosome
segregates with the normal chromosome 21, the gamete will have two copies of
chromosome 21 and result in a child with familial Down syndrome.
26. Draw a molecule of DNA undergoing theta replication. On your drawing, identify (1)
origin, (2) polarity (5' and 3' ends) of all template strands and newly synthesized
strands, (3) leading and lagging strands, (4) Okazaki fragments, and (5) location of
 primers.

27. List the different proteins and enzymes taking part in bacterial replication. Give the
function of each in the replication process.
DNA polymerase III is the primary replication polymerase. It elongates a new nucleotide
strand from the 3'–OH of the primer.
DNA polymerase I removes the RNA nucleotides of the primers and replaces them
with DNA nucleotides.
DNA ligase connects Okazaki fragments by sealing nicks in the sugar phosphate
backbone.
DNA primase synthesizes the RNA primers that provide the 3'–OH group needed for
DNA polymerase III to initiate DNA synthesis.
DNA helicase unwinds the double-helix by breaking the hydrogen bonding between
the two strands at the replication fork.
DNA gyrase reduces DNA supercoiling and torsional strain that is created ahead of the
replication fork by making double-stranded breaks in the DNA and passing another
segment of the helix through the break before resealing it. Gyrase
28. What three mechanisms ensure the accuracy of replication in bacteria?

(1) Highly accurate nucleotide selection by the DNA polymerases when pairing bases.

(2) The proofreading function of DNA polymerase, which removes incorrectly inserted bases.

(3) A mismatch repair apparatus that repairs mistakes after replication is complete.