Chapter Seven: Linkage, Recombination, and Eukaryotic Gene Mapping
COMPREHENSION QUESTIONS
*1. 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.
*2. 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 nonrecombinant 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 nonrecombinant, 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 nonrecombinant and less than 50% of the gametes are recombinant; the recombination frequency is greater than 0 and less than 50%.
3. What effect does crossing over have on linkage?
Crossing over generates recombination
between genes located on the same chromosome, and thus renders linkage
incomplete.
4. 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 nonrecombinant strands. Therefore, the
frequency of recombinant gametes is always half the frequency of crossovers.
6. How does one test to see if two genes are linked?
One first obtains individuals that are
heterozygous for both genes. This may be achieved by crossing an individual
homozygous dominant for both genes to one homozygous recessive for both genes,
resulting in a heterozygote with genes in coupling configuration.
Alternatively, an individual that is homozygous recessive for one gene may be
crossed to an individual homozygous recessive for the second gene, resulting in
a heterozygote with genes in repulsion. Then the heterozygote is mated to a
homozygous recessive tester and the progeny of each phenotypic class are
tallied. If the proportion of recombinant progeny is far less than 50%, the
genes are linked. If the results are not so clear-cut, then they may be tested
by chi-square, first for equal segregation at each locus, then for independent
assortment of the two loci. Significant deviation from results expected for
independent assortment indicates linkage of the two genes.
7. What is the difference between a genetic map and a physical map?
A genetic map gives the order of genes and
relative distance between them based on recombination frequencies observed in
genetic crosses. A physical map locates genes on the actual chromosome or DNA
sequence, and thus represents the physical distance between genes.
*8. Why do calculated recombination frequencies between pairs of loci that are located relatively far apart underestimate the true genetic distances between loci?
The further apart two loci are, the more
likely it is to get double crossovers between them. Unless there are marker
genes between the loci, such double crossovers will be undetected because
double crossovers give the same phenotypes as nonrecombinants. The calculated
recombination frequency will underestimate the true crossover frequency because
the double crossover progeny are not counted as recombinants.
9. 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 nonrecombinant 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 nonrecombinant 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 nonrecombinant.
l m r
l M r
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L M R L
m R
*13. In the snail Cepaea nemoralis, an autosomal allele causing a banded shell (BB) is recessive to the allele for unbanded shell (BO). Genes at a different locus determine the background color of the shell; here, yellow (CY) is recessive to brown (CBw). A banded, yellow snail is crossed with a homozygous brown, unbanded snail. The F1 are then crossed with banded, yellow snails (a testcross).
(a) What will be the results of the testcross if the loci that control banding and color are linked with no crossing over?
With absolute linkage, there will be no recombinant progeny. The F1
inherited banded and yellow alleles (BBCY) together on one chromosome from the banded
yellow parent and unbanded and brown alleles (BOCBw) together on the homologous chromosome from
the unbanded brown parent. Without recombination, all the F1 gametes
will contain only these two allelic combinations, in equal proportions.
Therefore, the F2 testcross progeny will be ½ banded, yellow and ½
unbanded, brown.
(b) What will be the results of the testcross if the loci assort independently?
With independent assortment, the progeny will be:
¼ banded, yellow
¼ banded, brown
¼ unbanded, yellow
¼ unbanded, brown
(c) What will be the results of the testcross if the loci are linked and 20 map units apart?
The recombination frequency is 20%, so each of the two classes of
recombinant progeny must be 10%. The recombinants are banded, brown and
unbanded, yellow. The two classes of nonrecombinants are 80% of the progeny, so
each must be 40%. The nonrecombinants are banded, yellow and unbanded, brown.
In summary:
40% banded, yellow
40% unbanded, brown
10% banded, brown
10% unbanded, yellow
*14. In silkmoths (Bombyx mori), red eyes (re) and white-banded wing (wb) are encoded by two mutant alleles that are recessive to those that produce wild-type traits (re+ and wb+); these two genes are on the same chromosome. A moth homozygous for red eyes and white-banded wings is crossed with a moth homozygous for the wild-type traits. The F1 have normal eyes and normal wings. The F1 are crossed with moths that have red eyes and white-banded wings in a testcross. The progeny of this testcross are:
wild-type eyes, wild-type wings 418
red eyes, wild-type wings 19
wild-type eyes, white-banded wings 16
red eyes, white-banded wings 426
(a) What phenotypic proportions would be expected if the genes for red eyes and white-banded wings were located on different chromosomes?
¼ wild-type
eyes, wild-type wings
¼ red
eyes, wild-type wings
¼
wild-type eyes, white-banded wings
¼ red
eyes, white-banded wings
(b) What is the genetic distance between the genes for red eyes and white-banded wings?
The F1 heterozygote inherited a
chromosome with alleles for red eyes and white-banded wings (re wb) from one parent and a chromosome with
alleles for wild-type eyes and wild-type wings (re+ wb+)
from the other parent. These are
therefore the phenotypes of the nonrecombinant progeny, present in the highest
numbers. The recombinants are the 19 with red eyes, wild-type wings and 16 with
wild-type eyes, white-banded wings.
RF = recombinants/total progeny × 100% = (19 + 16)/879 × 100% = 4.0%
The distance between the genes is 4 map units.
*24.(a and b only) Waxy endosperm (wx), shrunken endosperm (sh), and yellow seedling (v) are encoded by three recessive genes in corn that are linked on chromosome 5. A corn plant homozygous for all three recessive alleles is crossed with a plant homozygous for all the dominant alleles. The resulting F1 are then crossed with a plant homozygous for the recessive genes in a three-point testcross. The progeny of the testcross are given below:
wx sh V 87
Wx Sh v 94
Wx Sh V 3479
wx sh v 3478
Wx sh V 1515
wx Sh v 1531
wx Sh V 292
Wx sh v 280
total 10,756
(a) Determine order of these genes on the chromosome.
The nonrecombinants are Wx Sh V and wx sh v.
The double crossovers are wx sh V and Wx Sh v.
Comparing the two, we see
that they differ only at the v locus,
so v must be the middle gene.
(b) Calculate the map distances between the genes.
Wx-V distance—recombinants are wx V and Wx v:
RF = (292+280+87+94)/10,756
= 753/10,756 = .07 = 7% or 7 m.u.
Sh-V distance—recombinants are sh V and Sh v:
RF = (1515+1531+87+94)/10,756
= 3227/10,756 = 30 = 30% or 30 m.u.
The Wx-Sh distance is the sum of these two distances:
7 + 30 = 37 m.u.l.
25.(a and b only) Fine spines (s), smooth fruit (tu), and uniform fruit color (u) are three recessive traits in cucumbers whose genes are linked on the same chromosome. A cucumber plant heterozygous for all three traits is used in a testcross and the progeny at the top of the following page are produced from this testcross.
S U Tu 2
s u Tu 70
S u Tu 21
s u tu 4
S U tu 82
s U tu 21
s U Tu 13
S u tu 17__
total 230
(a) Determine the order of these genes on the chromosome.
Nonrecombinants are s u Tu and S U tu.
Double crossovers are s u tu and S U Tu.
Because Tu differs between the nonrecombinants and the double crossovers, Tu is the middle gene.
(b) Calculate the map distances between the genes.
S-Tu distance: recombinants are S Tu and s tu.
RF = (2 + 4 + 21 + 21)/230 =
48/230 = 21% or 21 m.u.
U-Tu distance: recombinants are u tu and U Tu.
RF = (2 + 4 + 13 + 17)/230 =
36/230 = 16% or 16 m.u.