Mendel, Genes and Transmission Genetics

I. Mendels Discoveries A. Segregation B. Test Crosses C. Independent Assortment II. Variations on Mendel A. Incomplete Dominance B. Multiple Alleles III. Chromosomal Basis of Inheritance IV. Sex-Linked Inheritance

Mendel studied seven characteristics in pea plants

He hypothesized that these characters (smooth, wrinkled, etc) are controlled by genes (although he did not use that term), the units that determine heredity

 Purple and white sweet pea flowers

Genetic Terms
P1: Parental generation F1 and F2: 1st and 2nd generation offspring Recessive: Trait not expressed in F1 Dominant: Trait present in F1 Genotype: genetic makeup of organism Phenotype: appearance of organism (tall, short, etc)

Homologous Chromosomes Each carry a Copy of a Gene

Alternative forms of a gene (alleles) reside at the same locus on homologous chromosomes GENE LOCI
P a B
DOMINANT allele

GENOTYPE:

PP

aa
for the recessive allele

Bb

RECESSIVE allele

HOMOZYGOUS HOMOZYGOUS
for the dominant allele

HETEROZYGOUS

Mendels Study of Single Traits

Cross involved only one trait, he called it a monohybrid cross. P1 Generation: Tall (~7ft) plants X dwarf (~18in) Pollen from one variety (tall) used to fertilize flowers from the other variety (dwarf). Next year, seeds resulting from the experiment were planted.

Results of First Cross

All offspring (F1) were all tall These plants were self-fertilized, seeds collected. The following year, these seeds were planted analyzed (F2) 787 tall, 277 dwarf (Total # of plants: 1064)

Analysis of Mendels Monohybrid Crosses

Made similar crosses for all other traits Results were consistent:

In all cases, only one parental trait in F1

Trait not shown in F1 reappeared in about 25% of the F2 offspring

Conclusions from Mendels Monohybrid Crosses

Genes (factors) that determine traits can be unexpressed. (Tall F1 x F1 give dwarf)

Trait expressed in F1 is a dominant trait Trait unexpressed in F1 but which reappears in F2 is recessive
Phenotype: appearance of organism Genotype: genetic makeup of organism

Genetic Notation
Each gene can have several forms or alleles (Gene: seed color; Alleles: yellow, green) Alleles symbolized by letters
Dominant alleles: upper case letters (D for tall) Recessive alleles: lower case letters (d for dwarf)

Identical alleles: (DD or dd) = Homozygous Different alleles: (Dd) = Heterozygous

Conclusions from Mendels Monohybrid Crosses

F1 tall plants must carry genes for tall, dwarf plants. How many does it carry? Each parent contributes equally (his postulate) Simplest explanation is F1 plant carries two genes, one for tall (expressed), one for dwarf (unexpressed). By extension, P1 and F2 also carry two copies of the gene for height.

Mendels Idea about Monohybrid Crosses

If genes exist in pairs, a mechanism must prevent them from doubling in each generation. Mendel proposed members of a gene pair separate (segregate) during gamete formation Mendels First Law: Segregation Can we reconstruct his results using letters to represent genes?

Segregation during Gamete Formation

Mendels Conclusions

Plant with tall phenotype might be homozygous dominant (DD), or heterozygous (Dd). How to tell? Do a test cross

If homozygous, then:

If heterozygous, then:

Independent Assortment
By looking at two characters at once, Mendel found that alleles of one gene pair segregate independently of other allele pairs during gamete formation
This is known as the Principle of Independent Assortment

Mendels Dihybrid Cross

First Generation in Dihybrid Cross

Some Variations on Mendel

Incomplete Dominance Multiple Alleles of a Single Gene Codominance Polygenic Inheritance
Traits controlled by two or more genes Height, intelligence, etc.

Incomplete Dominance: Each genotype has a distinct phenotype

RR red Rr pink rr white

Heterozygote phenotype intermediate to parents

Phenotypic ratio is same as genotypic ratio

Multiple Alleles
In a population, multiple alleles often exist for a characteristic
The three alleles for ABO blood type in humans is an example Gene I has three alleles: IA, IB, and iO. Any individual has only two of these, but all are present in a population.

Multiple Alleles of the gene I: IA, IB, and io: io is recessive IA and IB are codominant Type A: IAIA, IAiO Type B: IBIB, IBiO Type AB: IAIB Type O: iOiO

Codominance

IA and IB are codominant alleles

In this case, each allele is fully expressed in heterozygotes

Polygenic Traits
Traits are usually measured, not counted Two or more genes contribute to phenotype Phenotype are continuous not discontinous Polygenic traits are best assessed in populations not individuals

Polygenic Traits Are Controlled by More than One Gene

Polygenic Trait: Beak Depth

THE CHROMOSOMAL BASIS OF INHERITANCE

Genes are located on chromosomes Their behavior during meiosis accounts for inheritance patterns

SEX CHROMOSOMES AND SEX-LINKED GENES

A male has one X and one Y chromosome (XY) A female has two X chromosomes (XX) Sperm with an X or Y chromosome determines sex of offspring

Sex-Linked Inheritance
X and Y chromosomes pair at meiosis But they are not homologous Genes on X are not on Y XX females have two doses of all X-linked genes XY males have one dose of X-linked genes Males cannot be heterozygous or homozygous. They are hemizygous.

Sex-linked genes exhibit a unique pattern of inheritance

All genes on the sex chromosomes are said to be sex-linked
In many organisms, the X chromosome carries many genes unrelated to sex

Fruit fly eye color is a sex-linked trait

Sex-linked Inheritance of eye color in fruit flies.

Male w/ white eyes crossed to a female with red eyes (red is dominant to white) All F1flies have red eyes

 Most sex-linked human disorders are due to recessive alleles

Sex-linked disorders affect mostly males

Examples: hemophilia, red-green color blindness These are mostly seen in males A male receives a single X-linked allele from his mother, and will have the disorder, while a female has to receive the allele from both parents to be affected

Dosage Compensation
Genes on the X chromosome not equivalent to those on the Y chromosome Females have 2 X chromosomes, males have 1 If each copy of a gene makes gene products, do females have 2x the amount of gene products for X chromosome genes?

Dosage Compensation: Barr Body

Murray Barr noticed that cells from female cats had a dense spot inside the nucleus Susumo Ohno proposed this is an inactive X chromosome, solving problem of dosage compensation

Barr body

Lyon Hypothesis
Only 1 X is active in body cells of mammalian females. The other is coiled, inactive Inactive X from mother or father Inactivation takes place early in development Inactivation is permanent: all daughter cells Equalizes activity of X genes in males and females

X Inactivation

Tortoiseshell Cats are Mosaics

X-linked gene for coat color: One allele O = orange Other allele o = black

Females who are Oo have patches of orange and black fur

Unaffected skin (X chromosome with recessive allele was condensed; its allele is inactivated. The dominant allele on other X chromosome is being expressed in this tissue.)

Affected skin with no normal sweat glands (In this tissue, the X chromosome with dominant allele has been condensed. The recessive allele on the other X chromosome is being transcribed.)