white squash x white squash

Lecture 7 WwYy x WwYy

Chapter 5: Extensions and

Modifications of Basic Principles,
Part 2
Genotype Phenotype
W_Y_ 9/16 white
W_yy 3/16 white 12:3:1
wwY_ 3/16 yellow
Problem Set 1B due on Monday
wwyy 1/16 green
Read First Bacteriophage evolution lab write-up and bring to lab next week.

Complementation Test
Determines whether two independently isolated mutations are at the same locus
Summary Points or different loci.
1. Genes are discrete units that control the phenotype of organisms. One type of complementation test:
2. Inheritance follows the rules of segregation and independent Cross two parents that are each homozygous for different mutations.
assortment. mutation a mutation b
3. Dominance is a function of interaction between alleles. If all the offspring are wild-type, each mutation was at a different locus.
4. Genes control the production of proteins and thus the function of
biochemical pathways. If all the offspring are mutant, each mutation was at the same locus.
5. Epistasis occurs when one gene masks the effect of another gene. It is
thus a function of interaction between genes. Example: white eyed Drosophila mutants and apricot eye color mutants.
All offspring have light eyes.

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 Sex-linked characterisitics
Sex-influenced characteristics
Sex-limited characteristices

Sex-influenced characteristics: determined by autosomal genes, but

expressed differently in males and females.

Sex-limited characteristics: determined by autosomal genes, but

expressed only in one sex.

Beards in goats:
BbBb bearded in males or females
BbB+ bearded in males, beardless in females
+
B B + beardless in either sex

Pattern baldness in humans is also sex

influenced in the same way.

AND other factors, such as testosterone,

can affect the extent of baldness.

What pattern of inheritance is this?

Sex influenced.

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 Sex-limited characterisitics
Cytoplasmic inheritance
Male-limited precocious puberty: An autosomal dominant
allele, P. Due to extranuclear genes that are found in
chloroplasts or mitochondria.
PP or Pp male:
puberty before age of 4. Usually transferred by the mother (eggs larger,
containing these organelles).
pp male:
normal Random segregation of differing mitochondria
or chloroplasts can give widely differing
PP, Pp, or pp female: phenotypes.
normal

Males in a pedigree would pass this trait AND express it in

an autosomal dominant fashion.

Females?
pass it on?
Yes, with expression in their sons in an autosomal
dominant fashion.
Express it?
No

pollen plant (male)

Leaf variegation in the four-o’clock plant Genetic maternal effect

The genotype of the mother controls the phenotype of her

direct offspring.
Often due to some factor stored in the cytoplasm of the
mother’s egg.

Seed plant
(female)

Enheritance comes completely from the female.

Due to a defective chloroplast gene for production of
chlorophyll.

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Shell coiling in the snail, Limnea peregra
male female
s+ (dextral allele) dominant over s (sinistral allele)

s+s genotype encodes material for dextral shells Sinistral, because mother is ss:

Sinistral, because mother is ss:

Dextral because mother is s+s:

The genotype of the mother controls the

phenotype of her immediate progeny

Genomic imprinting

Phenotype of offspring depends on whether the altered allele comes from the
maternal side or the paternal side. General example: A = functional allele, and a = defective allele (at a locus showing
(only the allele inherited from one parent is expressed.) imprinting),
where the allele coming from maternal side gets methylated and thus inactivated.
Mechanism: mat A/pat a Æ mat ACH3/pat a:
Not completely understood, but involves DNA methylation of either the maternal defective phenotype
allele or the paternal allele during development. mat a/pat A Æ mat aCH3/pat A:
functional phenotype
If gene is methylated in appropriate region, its inactivated.
For some imprinted genes the maternal allele gets imprinted, for other genes the
paternal allele gets imprinted.

A side note: In X chromosome inactivation, coating of the X by Xist RNA leads to

DNA methylation, which is essential for inactivation of the genes on that X.

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Specific example of genomic imprinting : Prader-Willi syndrome and Angerman
syndrome

Both due to the same deletion of 15q11-15q13.

Paternally inherited deletion:

Prader-Willi syndrome: mental retardation, lack of muscle tone, insatiable hunger Æ
obesity, tiny hands and gonads.

Maternally inherited deletion:

Angelman syndrome: jerky, repetitive, lurching body movements; seizures; incoherent
speech; loud bursts of laughter.

The deleted region has at least two imprinted genes.

Anticipation Environmental Effects on Gene Expression

The severity of a trait increases or age of onset gets earlier as it is passed from
generation to generation.

Example: Fragile X syndrome

Huntington Disease

Grandfather’s age of onset: 50 (CAG)25

Mother’s age of onset: 35 (CAG)50
Child’s age of onset: 5 (CAG)120

Traits showing anticipation: mutant alleles are unstable and may change with each
generation. Many are caused by trinucleotide repeats.
As the number of repeats goes up, the chance of getting changes in that number
increases, and the severity and age of onset gets worse. Temperature sensitive alleles

There are lots of gene x environment interations!

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Concentration here: on discontinuous characteristics

Many phenotypes show continuous characteristics

These must be described quantitatively, thus often called quantitative characteristics.

Coming later this semester to a class near you!