BUT1010 GENETICS

LECTURE 3-4

INDEPENDENT ASSORTMENT
OF GENES

Assoc. Prof. Dr. EMİNUR ELÇİ

1
 INDEPENDENT ASSORTMENT OF GENES

The Green Revolution in agriculture is fostered by the widespread planting of superior lines
of crops (such as rice, shown here) made by combining beneficial genetic traits.
[Jorgen Schytte/Peter Arnold.]

Assoc. Prof. Dr. Eminur ELÇİ 2

CONTENT
• Mendel’s law of independent assortment

• Working with independent assortment

• The chromosomal basis of independent assortment

• Polygenic inheritance

• Organelle genes: inheritance independent of the

nucleus

Assoc. Prof. Dr. Eminur ELÇİ 3

 Mendel’s Law of Independent Assortment

• Gene pairs on different

chromosome pairs assort
independently at meiosis.
• The monohybrid cross R/r X R/r
gave a progeny ratio of 3 round :1
wrinkled as expected.
• To perform a dihybrid cross,
Mendel started with two pure
parental lines. One line had
wrinkled, yellow seeds. The other
line had round, green seeds, with
genotype R/R ・ y/y.
• Next, Mendel selfed the dihybrid F1
to obtain the F2 generation.

Figure 3-3
Mendel synthesized a dihybrid that, when
selfed, produced F2 progeny in the ratio
9:3:3:1.
Assoc. Prof. Dr. Eminur ELÇİ 4
Punnett Square
•The best graphic way of showing
the outcomes of the cross is
by using a 4 X 4 grid called
a Punnett square.

Monohybrid cross: 3:1

Dihybrid cross: 9:3:3:1
Trihybrid cross: ??

•A Punnett square is a model that predicts the

probability of likely outcomes of a genetic cross.

•A Punnett square shows all of the genotypes that could

result from a given hybrid cross.
Assoc. Prof. Dr. Eminur ELÇİ 5
 Punnett Square

Figure 3-4 We can use a Punnett square to predict the result of a dihybrid cross. This Punnett
square shows the predicted genotypic and phenotypic constitution of the F2 generation from a
dihybrid cross.
Assoc. Prof. Dr. Eminur ELÇİ 6
Trihybrid Crosses
• Consider crossing heterozygotes for flower color, pea color,
& pea shape.

PpYyRr x PpYyRr
• What should you do?
• First identify all the gametes that could form from each
parent (independent assortment & segregation assumed).
PYR – PYr – PyR – Pyr – pYR – pYr – pyR – pyr

• Then set up your 8 x 8 grid and distribute

the gametes.

Assoc. Prof. Dr. Eminur ELÇİ

2nd: Distribute gametes

PYR – PYr – PyR – Pyr – pYR – pYr – pyR – pyr

PYR PYr PyR Pyr pYR pYr pyR pyr

PYR
PYr
PyR
Pyr
pYR
pYr
pyR
pyr
Assoc. Prof. Dr. Eminur ELÇİ
Combine gametes and analyze.
What is the:
- Genotypic ratio? Phenotypic ratio?

PYR PYr PyR Pyr pYR pYr pyR pyr

PYR PPYYRR PPYYRr PPYyRR PPYyRr PpYYRR PpYYRr PpYyRR PpYyRr

PYr PPYYRr PPYYrr PPYyRr PPYyrr PpYYRr PpYYrr PpYyRr PpYyrr

PyR PPYyRR PPYyRr PPyyRR PPyyRr PpYyRR PpYyRr PpyyRR PpyyRr

Pyr PPYyRr PPYyrr PPyyRr PPyyrr PpYyRr PpYyrr PpyyRr Ppyyrr

pYR PpYYRR PpYYRr PpYyRR PpYyRr ppYYRR ppYYRr ppYyRR ppYyRr

pYr PpYYRr PpYYrr PpYyRr PpYyrr ppYYRr ppYYrr ppYyRr ppYyrr

pyR PpYyRR PpYyRr PpyyRR PpyyRr ppYyRR ppYyRr ppyyRR ppyyRr

pyr PpYyRr PpYyrr PpyyRr Ppyyrr ppYyRr ppYyrr ppyyRr ppyyrr

Assoc. Prof. Dr. Eminur ELÇİ
 What is the:
- Genotypic ratio? Phenotypic ratio?

GR=1PPYYRR:2PPYYRr:2PPYyRR:1PPYYrr:4PPYyRr:2PPYyrr:1PPyyRR:2PPyyRr:1PPyyrr:
2PpYYRR:4PpYYRr:2PpYYrr:4PpYyRR:8PpYyRr:4PpYyrr:2PpyyRR:4PpyyRr:2Ppyyrr:1ppYYRR:
2ppYYRr: 1ppYYrr:2ppYyRR:4ppYyRr:2ppYyrr:1ppyyRR:2ppyyRr:1ppyyrr
PR=27PYR:9PYw:9PgR:3Pgw:9wYR:3wgR:3wYw:1wgw

PYR PYr PyR Pyr pYR pYr pyR pyr

PYR PPYYRR PPYYRr PPYyRR PPYyRr PpYYRR PpYYRr PpYyRR PpYyRr

PYr PPYYRr PPYYrr PPYyRr PPYyrr PpYYRr PpYYrr PpYyRr PpYyrr

PyR PPYyRR PPYyRr PPyyRR PPyyRr PpYyRR PpYyRr PpyyRR PpyyRr

Pyr PPYyRr PPYyrr PPyyRr PPyyrr PpYyRr PpYyrr PpyyRr Ppyyrr

pYR PpYYRR PpYYRr PpYyRR PpYyRr ppYYRR ppYYRr ppYyRR ppYyRr

pYr PpYYRr PpYYrr PpYyRr PpYyrr ppYYRr ppYYrr ppYyRr ppYyrr

pyR PpYyRR PpYyRr PpyyRR PpyyRr ppYyRR ppYyRr ppyyRR ppyyRr

pyr PpYyRr PpYyrr PpyyRr Ppyyrr ppYyRr ppYyrr ppyyRr ppyyrr

Assoc. Prof. Dr. Eminur ELÇİ
What is the: How many (out of 64) will be:
- Genotypic ratio? - Purple flowers, Yellow peas, Round peas?
- white flowers, green peas, wrinkled peas?
- Phenotypic ratio? - Purple flowers, green peas, Round peas?
1PPYYRR:2PPYYRr:2PPYyRR:1PPYYrr:4PPYyRr:2PPYyrr:1PPyyRR:
- white flowers, Yellow peas, Round peas? 27 of 64
2PPyyRr:1PPyyrr:2PpYYRR:4PpYYRr:2PpYYrr:4PpYyRR:8PpYyRr: - Purple flowers, green peas, wrinkled peas?
4PpYyrr:2PpyyRR:4PpyyRr:2Ppyyrr:1ppYYRR:2ppYYRr: - Heterozygous for all three traits?
1ppYYrr:2ppYyRR:4ppYyRr:2ppYyrr:1ppyyRR:2ppyyRr:1ppyyrr
27PYR:9PYw:9PgR:3Pgw:9wYR:3wgR:3wYw:1wgw

PYR PYr PyR Pyr pYR pYr pyR pyr

PYR PPYYRR PPYYRr PPYyRR PPYyRr PpYYRR PpYYRr PpYyRR PpYyRr

PYr PPYYRr PPYYrr PPYyRr PPYyrr PpYYRr PpYYrr PpYyRr PpYyrr

PyR PPYyRR PPYyRr PPyyRR PPyyRr PpYyRR PpYyRr PpyyRR PpyyRr

Pyr PPYyRr PPYyrr PPyyRr PPyyrr PpYyRr PpYyrr PpyyRr Ppyyrr

pYR PpYYRR PpYYRr PpYyRR PpYyRr ppYYRR ppYYRr ppYyRR ppYyRr

pYr PpYYRr PpYYrr PpYyRr PpYyrr ppYYRr ppYYrr ppYyRr ppYyrr

pyR PpYyRR PpYyRr PpyyRR PpyyRr ppYyRR ppYyRr ppyyRR ppyyRr

pyr PpYyRr PpYyrr PpyyRr Ppyyrr ppYyRr ppYyrr ppyyRr ppyyrr

Assoc. Prof. Dr. Eminur ELÇİ
What is the: How many (out of 64) will be:
- Purple flowers, Yellow peas, Round peas?
- Genotypic ratio?
- white flowers, green peas, wrinkled peas?
- Phenotypic ratio? - Purple flowers, green peas, Round peas?
1PPYYRR:2PPYYRr:2PPYyRR:1PPYYrr:4PPYyRr:2PPYyrr:1PPyyRR:
- white flowers, Yellow peas, Round peas? 1 of 64
2PPyyRr:1PPyyrr:2PpYYRR:4PpYYRr:2PpYYrr:4PpYyRR:8PpYyRr: - Purple flowers, green peas, wrinkled peas?
4PpYyrr:2PpyyRR:4PpyyRr:2Ppyyrr:1ppYYRR:2ppYYRr: -
1ppYYrr:2ppYyRR:4ppYyRr:2ppYyrr:1ppyyRR:2ppyyRr:1ppyyrr
Heterozygous for all three traits?
27PYR:9PYw:9PgR:3Pgw:9wYR:3wgR:3wYw:1wgw

PYR PYr PyR Pyr pYR pYr pyR pyr

PYR PPYYRR PPYYRr PPYyRR PPYyRr PpYYRR PpYYRr PpYyRR PpYyRr

PYr PPYYRr PPYYrr PPYyRr PPYyrr PpYYRr PpYYrr PpYyRr PpYyrr

PyR PPYyRR PPYyRr PPyyRR PPyyRr PpYyRR PpYyRr PpyyRR PpyyRr

Pyr PPYyRr PPYyrr PPyyRr PPyyrr PpYyRr PpYyrr PpyyRr Ppyyrr

pYR PpYYRR PpYYRr PpYyRR PpYyRr ppYYRR ppYYRr ppYyRR ppYyRr

pYr PpYYRr PpYYrr PpYyRr PpYyrr ppYYRr ppYYrr ppYyRr ppYyrr

pyR PpYyRR PpYyRr PpyyRR PpyyRr ppYyRR ppYyRr ppyyRR ppyyRr

pyr PpYyRr PpYyrr PpyyRr Ppyyrr ppYyRr ppYyrr ppyyRr ppyyrr

Assoc. Prof. Dr. Eminur ELÇİ
What is the: How many (out of 64) will be:
- Purple flowers, Yellow peas, Round peas?
- Genotypic ratio? - white flowers, green peas, wrinkled peas? 9 of 64
- Phenotypic ratio? - Purple flowers, green peas, Round peas?
1PPYYRR:2PPYYRr:2PPYyRR:1PPYYrr:4PPYyRr:2PPYyrr:1PPyyRR:
- white flowers, Yellow peas, Round peas?
2PPyyRr:1PPyyrr:2PpYYRR:4PpYYRr:2PpYYrr:4PpYyRR:8PpYyRr: - Purple flowers, green peas, wrinkled peas?
4PpYyrr:2PpyyRR:4PpyyRr:2Ppyyrr:1ppYYRR:2ppYYRr: -
1ppYYrr:2ppYyRR:4ppYyRr:2ppYyrr:1ppyyRR:2ppyyRr:1ppyyrr
Heterozygous for all three traits?
27PYR:9PYw:9PgR:3Pgw:9wYR:3wgR:3wYw:1wgw

PYR PYr PyR Pyr pYR pYr pyR pyr

PYR PPYYRR PPYYRr PPYyRR PPYyRr PpYYRR PpYYRr PpYyRR PpYyRr

PYr PPYYRr PPYYrr PPYyRr PPYyrr PpYYRr PpYYrr PpYyRr PpYyrr

PyR PPYyRR PPYyRr PPyyRR PPyyRr PpYyRR PpYyRr PpyyRR PpyyRr

Pyr PPYyRr PPYyrr PPyyRr PPyyrr PpYyRr PpYyrr PpyyRr Ppyyrr

pYR PpYYRR PpYYRr PpYyRR PpYyRr ppYYRR ppYYRr ppYyRR ppYyRr

pYr PpYYRr PpYYrr PpYyRr PpYyrr ppYYRr ppYYrr ppYyRr ppYyrr

pyR PpYyRR PpYyRr PpyyRR PpyyRr ppYyRR ppYyRr ppyyRR ppyyRr

pyr PpYyRr PpYyrr PpyyRr Ppyyrr ppYyRr ppYyrr ppyyRr ppyyrr

Assoc. Prof. Dr. Eminur ELÇİ
What is the: How many (out of 64) will be:
- Purple flowers, Yellow peas, Round peas?
- Genotypic ratio? - white flowers, green peas, wrinkled peas? 9 of 64
- Phenotypic ratio? - Purple flowers, green peas, Round peas?
1PPYYRR:2PPYYRr:2PPYyRR:1PPYYrr:4PPYyRr:2PPYyrr:1PPyyRR:
- white flowers, Yellow peas, Round peas?
2PPyyRr:1PPyyrr:2PpYYRR:4PpYYRr:2PpYYrr:4PpYyRR:8PpYyRr: - Purple flowers, green peas, wrinkled peas?
4PpYyrr:2PpyyRR:4PpyyRr:2Ppyyrr:1ppYYRR:2ppYYRr: -
1ppYYrr:2ppYyRR:4ppYyRr:2ppYyrr:1ppyyRR:2ppyyRr:1ppyyrr
Heterozygous for all three traits?
27PYR:9PYw:9PgR:3Pgw:9wYR:3wgR:3wYw:1wgw

PYR PYr PyR Pyr pYR pYr pyR pyr

PYR PPYYRR PPYYRr PPYyRR PPYyRr PpYYRR PpYYRr PpYyRR PpYyRr

PYr PPYYRr PPYYrr PPYyRr PPYyrr PpYYRr PpYYrr PpYyRr PpYyrr

PyR PPYyRR PPYyRr PPyyRR PPyyRr PpYyRR PpYyRr PpyyRR PpyyRr

Pyr PPYyRr PPYyrr PPyyRr PPyyrr PpYyRr PpYyrr PpyyRr Ppyyrr

pYR PpYYRR PpYYRr PpYyRR PpYyRr ppYYRR ppYYRr ppYyRR ppYyRr

pYr PpYYRr PpYYrr PpYyRr PpYyrr ppYYRr ppYYrr ppYyRr ppYyrr

pyR PpYyRR PpYyRr PpyyRR PpyyRr ppYyRR ppYyRr ppyyRR ppyyRr

pyr PpYyRr PpYyrr PpyyRr Ppyyrr ppYyRr ppYyrr ppyyRr ppyyrr

Assoc. Prof. Dr. Eminur ELÇİ
What is the: How many (out of 64) will be:
- Purple flowers, Yellow peas, Round peas?
- Genotypic ratio? - white flowers, green peas, wrinkled peas? 3 of 64
- Phenotypic ratio? - Purple flowers, green peas, Round peas?
- white flowers, Yellow peas, Round peas?
1PPYYRR:2PPYYRr:2PPYyRR:1PPYYrr:4PPYyRr:2PPYyrr:1PPyyRR:
2PPyyRr:1PPyyrr:2PpYYRR:4PpYYRr:2PpYYrr:4PpYyRR:8PpYyRr: - Purple flowers, green peas, wrinkled peas?
4PpYyrr:2PpyyRR:4PpyyRr:2Ppyyrr:1ppYYRR:2ppYYRr: -
1ppYYrr:2ppYyRR:4ppYyRr:2ppYyrr:1ppyyRR:2ppyyRr:1ppyyrr
Heterozygous for all three traits?
27PYR:9PYw:9PgR:3Pgw:9wYR:3wgR:3wYw:1wgw

PYR PYr PyR Pyr pYR pYr pyR pyr

PYR PPYYRR PPYYRr PPYyRR PPYyRr PpYYRR PpYYRr PpYyRR PpYyRr

PYr PPYYRr PPYYrr PPYyRr PPYyrr PpYYRr PpYYrr PpYyRr PpYyrr

PyR PPYyRR PPYyRr PPyyRR PPyyRr PpYyRR PpYyRr PpyyRR PpyyRr

Pyr PPYyRr PPYyrr PPyyRr PPyyrr PpYyRr PpYyrr PpyyRr Ppyyrr

pYR PpYYRR PpYYRr PpYyRR PpYyRr ppYYRR ppYYRr ppYyRR ppYyRr

pYr PpYYRr PpYYrr PpYyRr PpYyrr ppYYRr ppYYrr ppYyRr ppYyrr

pyR PpYyRR PpYyRr PpyyRR PpyyRr ppYyRR ppYyRr ppyyRR ppyyRr

pyr PpYyRr PpYyrr PpyyRr Ppyyrr ppYyRr ppYyrr ppyyRr ppyyrr

Assoc. Prof. Dr. Eminur ELÇİ
What is the: How many (out of 64) will be:
- Purple flowers, Yellow peas, Round peas?
- Genotypic ratio? - white flowers, green peas, wrinkled peas? 8 of 64
- Phenotypic ratio? - Purple flowers, green peas, Round peas?
- white flowers, Yellow peas, Round peas?
1PPYYRR:2PPYYRr:2PPYyRR:1PPYYrr:4PPYyRr:2PPYyrr:1PPyyRR: -
2PPyyRr:1PPyyrr:2PpYYRR:4PpYYRr:2PpYYrr:4PpYyRR:8PpYyRr:
Purple flowers, green peas, wrinkled peas?
4PpYyrr:2PpyyRR:4PpyyRr:2Ppyyrr:1ppYYRR:2ppYYRr: - Heterozygous for all three traits?
1ppYYrr:2ppYyRR:4ppYyRr:2ppYyrr:1ppyyRR:2ppyyRr:1ppyyrr
27PYR:9PYw:9PgR:3Pgw:9wYR:3wgR:3wYw:1wgw

PYR PYr PyR Pyr pYR pYr pyR pyr

PYR PPYYRR PPYYRr PPYyRR PPYyRr PpYYRR PpYYRr PpYyRR PpYyRr

PYr PPYYRr PPYYrr PPYyRr PPYyrr PpYYRr PpYYrr PpYyRr PpYyrr

PyR PPYyRR PPYyRr PPyyRR PPyyRr PpYyRR PpYyRr PpyyRR PpyyRr

Pyr PPYyRr PPYyrr PPyyRr PPyyrr PpYyRr PpYyrr PpyyRr Ppyyrr

pYR PpYYRR PpYYRr PpYyRR PpYyRr ppYYRR ppYYRr ppYyRR ppYyRr

pYr PpYYRr PpYYrr PpYyRr PpYyrr ppYYRr ppYYrr ppYyRr ppYyrr

pyR PpYyRR PpYyRr PpyyRR PpyyRr ppYyRR ppYyRr ppyyRR ppyyRr

pyr PpYyRr PpYyrr PpyyRr Ppyyrr ppYyRr ppYyrr ppyyRr ppyyrr

Assoc. Prof. Dr. Eminur ELÇİ
Working with Independent Assortment:
Using the chi-square test on monohybrid and
dihybrid ratios

• In genetics generally, a researcher is often

confronted with results that are close to an expected
ratio but not identical to it.

• Such ratios can be from monohybrids, dihybrids, or

more complex genotypes and with independence or
not.

• But how close to an expected result is close enough?

• A statistical test is needed to check such ratios

against expectations, and the chi-square test, or X2
test, fulfills this role.
Assoc. Prof. Dr. Eminur ELÇİ 17
Chi-square (X2)test

Assoc. Prof. Dr. Eminur ELÇİ

Chi-square (X2)test

Monohybrid

Genotype Ratio O E Deviation D2 D2/E

A_ 3/4 740 750 10 100 0,13
aa 1/4 260 250 -10 100 0,40
Total 1000 X2 = 0,53

Dihybrid
Genotype Ratio O E Deviation D2 D2/E
A_B_ 9/16 587 567 -20 400 0,71
A_bb 3/16 197 189 -8 64 0,34
aaB_ 3/16 168 189 21 441 2,33
aabb 1/16 56 63 7 49 0,78
Total 1008 X2 = 4,16

Assoc. Prof. Dr. Eminur ELÇİ

Chi-square (X2)test
Some important notes on the application of this test follow:
1. What does the probability value actually mean? It is the probability of
observing a deviation from the expected results at least as large (not exactly
this deviation) on the basis of chance if the hypothesis is correct.

2. The fact that our results have “passed” the chi-square test because p
> 0.05 does not mean that the hypothesis is true; it merely means that the
results are compatible with that hypothesis. However, if we had obtained a p
value of < 0.05, we would have been forced to reject the hypothesis. Science is
all about falsifiable hypotheses, not “truth.”

3. We must be careful about the wording of the hypothesis, because tacit

assumptions are often buried within it. The present hypothesis is a case in
point; if we were to carefully state it, we would have to say that the “individual
under test is a heterozygote A/a, these alleles show equal segregation at
meiosis, and the A/a and a/a progeny are of equal viability.”

4. The outcome of the X2 test depends heavily on sample sizes (numbers in the
classes). Hence, the test must use actual numbers, not proportions or
percentages. Additionally, the larger the samples, the more reliable is the test.

Assoc. Prof. Dr. Eminur ELÇİ 20

 Synthesizing pure lines
•Pure lines are among the essential
tools of genetics. For one thing, only
these fully homozygous lines will
express recessive alleles, but the
main need for pure lines is in the
maintenance of stocks for research.

•The members of a pure line can be

left to interbreed over time and
thereby act as a constant source of
the genotype for use in experiments. Figure 3-5
Hence, for most model organisms, Tomato breeding has resulted in a wide range of
lines of different genotypes and phenotypes.
there are international stock centers
that are repositories of pure lines for
use in research. Repeated selfing leads to an increased
proportion of homozygotes, a process
that can be used to create pure lines
for research or other applications.

Assoc. Prof. Dr. Eminur ELÇİ 21

Hybrid vigor

•We have been considering the

synthesis of superior pure lines for
research and for agriculture. Pure lines
are convenient in that propagation of
the genotype from year to year is fairly
easy.
•However, a large proportion of
commercial seed that farmers use is
called hybrid seed. Curiously, in many
cases in which two disparate lines of
plants are united in an F1 hybrid
(presumed heterozygote), the hybrid
shows greater size and vigor than do Figure 3-6
Multiple
the two contributing lines (Figure 3-6).
heterozygous
hybrid flanked by
•This general superiority of multiple the two pure lines
heterozygotes is called hybrid vigor. crossed to
make it. (a) The
plants. (b) Cobs
from the same
Assoc. Prof. Dr. Eminur ELÇİ plants.
22
Hybrid vigor
• Some hybrids between genetically different lines
show hybrid vigor.

• However, gene assortment when the hybrid

undergoes meiosis breaks up the favorable
allelic combination, and thus few members of the
next generation have it.

Assoc. Prof. Dr. Eminur ELÇİ 23

 The Chromosomal Basis of Independent
Assortment
• Like equal segregation, the independent assortment of
gene pairs on different chromosomes is explained by the
behavior of chromosomes during meiosis.

• Consider a chromosome that we might call number 1; its

two homologs could be named 1’ and 1’’. If the
chromosomes align on the equator, then 1’ might go
“north” and 1’’ “south” or vice versa.

• Similarly for a chromosome 2 with homologs 2’ and 2’’, 2’

might go north and 2’’ south or vice versa.

• Hence, chromosome 1’ could end up packaged with either

chromosome 2’ or 2’’, depending on which chromosomes
were pulled in the same direction.
Assoc. Prof. Dr. Eminur ELÇİ 24
 The Chromosomal Basis of Independent
Assortment
• In 1913, Elinor Carothers found an unusual chromosomal
situation in a certain species of grasshopper.

• Studying meioses in the testes of grasshoppers, she

found a grasshopper in which one chromosome “pair”
had nonidentical members.

• Such a pair is called a heteromorphic pair; presumably,

the chromosomes show only partial homology. In
addition, the same grasshopper had another
chromosome (unrelated to the heteromorphic pair) that
had no pairing partner at all.

• In addition, she found that the two patterns were equally

frequent.
Assoc. Prof. Dr. Eminur ELÇİ 25
 The Chromosomal Basis of Independent
Assortment
•If we hold the segregation of
the heteromorphic pair constant
(brown in the figure), then the
unpaired (purple) chromosome
can go to either pole equally
frequently, half the time with
the long form and half the time
with the short form.

•In other words the purple and

brown sets were segregating
independently. Although these
are obviously not typical Figure 3-7 Carothers observed these two
chromosomes, the results do equally frequent patterns by which a
strongly suggest that different heteromorphic pair and an unpaired
chromosome move into gametes at meiosis.
chromosomes assort
independently at the first
division of meiosis.

Assoc. Prof. Dr. Eminur ELÇİ 26

The Chromosomal Basis of Independent Assortment:
Independent assortment in diploid organisms

Figure 3-8 Meiosis in a diploid cell of genotype A/a;B/b. The diagram shows how the
segregation and assortment of different chromosome pairs give rise to the 1:1:1:1
Mendelian gametic ratio.
Assoc. Prof. Dr. Eminur ELÇİ 27
The Chromosomal Basis of Independent Assortment:
Independent assortment in haploid organisms

Figure 3-9 The life cycle of Neurospora

crassa, the orange bread mold. Self-
fertilization is not possible in this species:
there are two mating types, determined
by the alleles A and a of one gene, and
either can act as “female.” An asexual
spore from the opposite mating type
fuses with a receptive hair, and a nucleus
from the asexual spore travels down the
hair to pair with a female nucleus in the
knot of cells. The A and a pair then
undergo synchronous mitoses, finally
fusing to form diploid meiocytes.

Assoc. Prof. Dr. Eminur ELÇİ 28

 Chromosome

Assoc. Prof. Dr. Eminur ELÇİ 29

 Chromosome

Assoc. Prof. Dr. Eminur ELÇİ 30

 Chromosome

Assoc. Prof. Dr. Eminur ELÇİ 31

 0.5 µm

Chromosome
duplication
(including DNA
synthesis)

Centromere

Sister
chromatids

Separation
of sister
chromatids

Centromeres Sister chromatids

 Recombination
• The independent assortment of genes at meiosis is
one of the main ways by which an organism
produces new combinations of alleles. The
production of new allele combinations is formally
called recombination.

• Recombination is a crucial principle in genetics,

partly because of its relevance to evolution but also
because of its use in genetic analysis.

• Meiotic recombination is any meiotic process

that generates a haploid product with new
combinations of the alleles carried by the haploid
genotypes that united to form the meiocyte.
Assoc. Prof. Dr. Eminur ELÇİ 33
Allele
• The term allele denotes the variant of a
given gene. In genetics it is normal for genes to
show deviations or diversity − all alleles together
make up the set of genetic information that
defines a gene.

• An allele is a variation of the same sequence

of nucleotides that encodes the synthesis of
a gene product at the same place on a
long DNA molecule.

Assoc. Prof. Dr. Eminur ELÇİ 34

An Example: Eye color alleles

•Eye color is an inherited

trait influenced by more
than one gene,
including OCA2 and HERC2.
The interaction of multiple
genes—and the variation in
these genes ("alleles")
between individuals—help
to determine a person's eye
color phenotype.
•Eye color is influenced
by pigmentation of
the iris and the frequency-
dependence of the
light scattering by
the turbid medium within
the stroma of the iris.

Assoc. Prof. Dr. Eminur ELÇİ 35

Additional Info: Eye Color Inheritance

Assoc. Prof. Dr. Eminur ELÇİ 36

 Recombination
•Meiosis generates
recombinants,
which are haploid
meiotic products with
new combinations of
the alleles carried by
the haploid
genotypes that
united to form the
meiocyte.
Figure 3-11 Recombinants are
those products of meiosis with
allele combinations different
from those of the haploid cells
that formed the meiotic diploid.
Assoc. Prof. Dr. Eminur ELÇİ 37
 Recombination

Figure 3-12
Recombinant
products of a
diploid meiosis
are most readily
detected in a
cross of a
heterozygote and
a recessive tester.
Note that Figure
3-11 is repeated
as part of this
diagram.

Assoc. Prof. Dr. Eminur ELÇİ 38

 Recombination

A recombinant frequency of
50 percent indicates that
the genes are
independently assorting and
are most likely on different
chromosomes.

Figure 3-13 This diagram shows

two chromosome pairs of a diploid
organism with A and a on one pair
and B and b on the other.
Independent assortment produces
a recombinant frequency of 50
percent. Note that we could
represent the haploid situation by
removing the parental (P) cross
and the testcross.
Assoc. Prof. Dr. Eminur ELÇİ 39
 Polygenic Inheritance
•So far, we have focused on single-
gene differences.
•However, a large proportion of
variation in natural populations takes
the form of continuous variation,
which is typically found in characters
that can take any measurable value
between two extremes.
•Height, weight, and color intensity
are examples of such metric, or
quantitative, characters.
•Typically, when the metric value of
these characters is plotted against
frequency in a natural population, the
distribution curve is shaped like a bell
(Figure 3-14). The bell shape is due to the
fact that average values in the middle
are the most common, whereas
extreme values are rare.

Assoc. Prof. Dr. Eminur ELÇİ 40

 Polygenic Inheritance
• The interacting genes underlying hereditary
continuous variation are called polygenes or
quantitative trait loci (QTLs).
- Quantitative is more or less synonymous with
continuous;
- Trait is more or less synonymous with character or
property;
- Locus, which literally means place on a
chromosome, is more or less synonymous with
gene.
• The polygenes, or QTLs, for the same trait are
distributed throughout the genome; in many cases,
they are on different chromosomes and show
independent assortment.
Assoc. Prof. Dr. Eminur ELÇİ 41
 Polygenic Inheritance

Figure 3-15
The progeny of
a dihybrid self
for two
polygenes can
be expressed as
numbers of
additive allelic
“doses.”

Assoc. Prof. Dr. Eminur ELÇİ 42

 Polygenic Inheritance

Assoc. Prof. Dr. Eminur ELÇİ 43

 Organelle Genes:
Inheritance Independent of the Nucleus

Assoc. Prof. Dr. Eminur ELÇİ 44

 Organelle Genes:
Inheritance Independent of the Nucleus
•So far, we have considered only nuclear genes.
Although the nucleus contains most of a eukaryotic
organism’s genes, a distinct and specialized subset of the
genome is found in the mitochondria, and, in plants,
also in the chloroplasts: mitochondrial DNA
(mtDNA) and chloroplast DNA (cpDNA)
(photosynthesis in chloroplasts and oxidative
phosphorylation in mitochondria)

•These subsets are inherited independently of the

nuclear genome, and so they constitute a special case of
independent inheritance, sometimes called
extranuclear inheritance.

Assoc. Prof. Dr. Eminur ELÇİ 45

Origin of extranuclear genes:
Endosymbiotic Theory

Assoc. Prof. Dr. Eminur ELÇİ 46

 Organelle Genes:
Inheritance Independent of the Nucleus
• Organelle genes show their own special mode of
inheritance called uniparental inheritance:
progeny inherit organelle genes exclusively from
one parent but not the other.

• In most cases, that parent is the mother, a

pattern called maternal inheritance.

Assoc. Prof. Dr. Eminur ELÇİ 47

 Why only the mother?
• The answer lies in the fact that the organelle
chromosomes are located in the cytoplasm and
the male and female gametes do not contribute
cytoplasm equally to the zygote. In regard to
nuclear genes, both parents contribute equally to
the zygote.

• The organelles reside in the cytoplasm, the

female parent contributes the organelles along
with the cytoplasm, and essentially none of the
organelle DNA in the zygote is from the male
parent.

Assoc. Prof. Dr. Eminur ELÇİ 48

 Organelle Genes: Inheritance Independent of the Nucleus:
Maternal inheritance

Figure 3-20 Reciprocal crosses of poky and wild-type Neurospora produce different results
because a different parent contributes the cytoplasm. The female parent contributes most of the
cytoplasm of the progeny cells. Brown shading represents cytoplasm with mitochondria
containing the poky mutation, and green shading represents cytoplasm with wild-type
mitochondria. Note that all the progeny in part a are poky, whereas all the progeny in part b are
normal. Hence, both crosses show maternal inheritance. The nuclear gene with the alleles ad
(black) and ad (red) is used to illustrate the segregation of the nuclear genes in the 1:1 Mendelian
ratio expected for this haploid organism.

Assoc. Prof. Dr. Eminur ELÇİ 49

 Cytoplasmic segregation
In some cases, cells contain
mixtures of mutant and
normal organelles. In these
mixtures, a type of
cytoplasmic segregation
can be detected, in which the
two types apportion
themselves into different
daughter cells.

A variegated mosaic of Euonymus

fortunei (Emerald Gaiety:Papaz Külahı).
Green(normal) and albino tissue
caused by mixture of two
chloroplast DNA types.

Assoc. Prof. Dr. Eminur ELÇİ 50

 Cytoplasmic segregation

Figure 3-21 Leaf variegation

in Mirabilis jalapa, the four-
o’clock plant. Flowers can
form on any branch
(variegated, green, or white),
and these flowers can be
used in crosses.

Assoc. Prof. Dr. Eminur ELÇİ 51

 Cytoplasmic segregation
• The four-o’clock plant in Figure 3-21 shows a commonly
observed variegated leaf and branch phenotype that
demonstrates the inheritance of a mutant allele of a
chloroplast gene.
• The mutant allele causes chloroplasts to be white; in turn,
the color of the chloroplasts determines the color of cells
and hence the color of the branches composed of those
cells.
• Variegated branches are mosaics of all-green and all-white
cells.
• Flowers can develop on green, white, or variegated
branches, and the chloroplast genes of a flower’s cells are
those of the branch on which it grows.
• The maternal gamete within the flower (the egg cell)
determines the color of the leaves and branches of the
progeny plant.
Assoc. Prof. Dr. Eminur ELÇİ 52
 Organelle Genes Summary
• Organelle populations that contain mixtures of two
genetically distinct chromosomes often show
segregation of the two types into the daughter cells
at cell division. This process is called cytoplasmic
segregation.
• Alleles on organelle chromosomes
1. in sexual crosses are inherited from one parent
only (generally the maternal parent) and hence show
no segregation ratios of the type nuclear genes do.
2. in asexual cells can show cytoplasmic segregation.
3. in asexual cells can occasionally show processes
analogous to crossing over.

Assoc. Prof. Dr. Eminur ELÇİ 53

 Cytoplasmic mutations in humans

Figure 3-24 This map of

human mtDNA shows loci of
mutations leading to
cytopathies. The transfer RNA
genes are represented by
single-letter amino acid
abbreviations: ND NADH
dehydrogenase; COX
cytochrome oxidase; and 12S
and 16S refer to ribosomal
RNAs.

Assoc. Prof. Dr. Eminur ELÇİ 54

Cytoplasmic mutations in humans

Figure 3-25 This pedigree shows that a human mitochondrial

disease is inherited only from the mother.

Assoc. Prof. Dr. Eminur ELÇİ 55

MtDNA in evolutionary studies
•Differences and similarities of homologous mtDNA
sequences between species have been used extensively to
construct evolutionary trees.

•Furthermore, it has been possible to introduce some extinct

organisms into evolutionary trees using mtDNA sequences
obtained from the remains of extinct organisms, such as skins
and bones in museums.

•MtDNA evolves relatively rapidly, so this approach has been

most useful in plotting recent evolution such as the evolution
of humans and other primates.

•One key finding is that the “root” of the human mtDNA tree
is in Africa, suggesting that Homo sapiens originated in Africa
and from there dispersed throughout the world.
Assoc. Prof. Dr. Eminur ELÇİ 56
 References

• Introduction to Genetic Analysis-10th Edition,

Anthony J.F Griffiths

• The Green World-Plant Genetics, Carl-Erik

Tornqvist

• Wikipedia 2022

Assoc. Prof. Dr. EMİNUR ELÇİ

Assoc. Prof. Dr. Eminur ELÇİ 57