Chapter 3: Extensions of Mendelian Analysis

Chapter 3c:

This material is for exclusive use of BIO 121 (General Genetics) students
under the Science Department, CNSM, Mindanao State University-General
Santos. Unauthorized use of this material is prohibited.
 Learning Outcomes
• Learn about lethal genes and
the extent of their adverse
effects to human well-being
and in other organisms
References
Concepts of Genetics, 12th Global Edition.
Michael R. Cummings, William S. Klug,
Charlotte A. Spencer, Michael A. Palladino and
Darrell Killian.2019
Principles of Genetics, 7th Edition. John
Gardner, Michael J. Simmons, D. Peter
Snustad. New York : J. Wiley, 2015
 Essential genes vs lethal alleles:

Essential gene =may result in a lethal phenotype

when mutated.
Lethal allele= mutation that results in death.
(can be dominant or recessive)

1. Recessive lethal allele- aa dies

-cause lethality when homozygous recessive
-produce recognizable phenotype in heterozygote
-Lethality first reported by Cuenot in 1905 while
working on mice(body color)
-small number of recessive lethals in populations
-expressed in homozygous recessive progeny
The Ay allele is a dominant coat color allele that is lethal
when carried in homozygous form.
 Yellow body color, an example of
a lethal allele in mice:
 Yellow mice never breed true.
 Cross yellow x non-yellow, F1 is
1:1 yellow and non-yellow (all
yellow mice are heterozygotes,
AY/A).
 Cross yellow x yellow (AY/A x
AY/A), F2 is 2:1 yellow:non-
yellow instead of the predicted
3:1 ratio.
 Homozygotes (AY/ AY) are
aborted in utero.
 Yellow is dominant with respect
to coat color, but acts as a
recessive lethal allele.
 Cross A Cross B Cross C

x Aa x Aa aa x Aa
aa aa
agouti agouti yellow yellow agouti yellow

aa Aa aa Aa
aa
agouti yellow
Aa AA
Lethal

all agouti 2/3 yellow 1/2 agouti

1/3 agouti 1/2 yellow
 Yellow coat color in mice is dominant, but a cross between two
yellow mice gives a 2:1 phenotypic ratio (2 yellow to 1 wild-type, or 2
yellow to 1 black).
 The yellow mutation is an allele of the agouti gene. agouti controls
the type of melanin deposited (among other things).

agouti yellow
A: agouti x agouti all agouti
B: yellow x yellow 2/3 yellow: 1/3 agouti
C: agouti x yellow 1/2 yellow: 1/2 agouti
 Manx cat- ML interferes with normal spine
development

MLML- death of embryo

MLM- absence of tail
MM- normal

Manx cat
Pseudoachondroplasia
 ‘Dexter’ Condition in cattle

•heterozygotes fully viable

•with short legs
•better to raise since they can’t escape from
fenced pastures

homozygous recessives- ‘bulldog’ calves with extremely reduced

features and aborted before birth
Xeroderma pigmentosum in man
• heterozygotes show heavy freckling
•homozygous recessive- with fatal skin cancer due to
extreme sensitivity to UV, stunted growth,
epilepsy
Why do recessive lethal alleles persist in the
population?

• Recessive lethal alleles are not eliminated

• rare alleles occur in the heterozygote (protected or
balanced polymorphism).
2. Dominant lethal allele- Aa and AA die

•If dominant and immediate in expression- all individuals with

genes will die and gene will be lost
•usually with delayed effects

Epiloia in humans-
•heterozygote has tumor-like formation in various organs and skin,
severe mental defects leading to early death
 Ex. The “creeper” allele in chickens,
which causes the legs to be short and
stunted.
 Creeper is a dominant gene.
 Heterozygous chickens display the
creeper phenotype.
 If 2 creeper chickens are crossed, one
would expect to have ¾ creeper and ¼
normal
 Instead, the ratio is 2/3 creeper and 1/3
normal.