Johann Gregor Mendel: “ The father of genetics”

-German Monk 1822-1884

-Worked on Pea Plants at a monastery in Brunn.
- Around 1843 he described three laws.
- Law of dominance and recessiveness
- Law of Independent assortment
- Law of segregation
Key Concept:
Most organisms have a pair of genes for each
physical trait. One gene is inherited from each
parent.
Inheritance of Flower Color Experiment:
Mendel crossed a purebred red flower peas with a purebred white flower peas
( These are called parent generation or p1)
Hybrid: offspring of a genetically mixed strain
( Red x white )
Mendel collected hybrid seeds and planted them to see what traits the f 1 generation had inherited.
f1 generation were all red flowers
What did he infer about the alleles ( gene forms) for red and white flowers?
Mendel self pollinated the f1 generation and collected the seeds. He found that 75% turned out red and 25% were white.
Mendel explained: There must be two factors governing flower color ( these are called genes)
Pure bred red flower RR
Pure bred white flower rr
Punnett square:
(Reginald Punnett: English geneticist 1875-1963)
Square that shows every possible gene combination from a male x female allele cross.

R R

Rr Rr
r
Rr Rr
r

Allowed to self pollinate R r

R RR Rr
r Rr rr

Rr = hybrid (heterozygous) for flower color

RR = purebred dominant ( homozygous)
rr = purebred recessive ( homozygous)
Alleles : different forms of the same gene (red, white) ex. Blood type alleles (A,B,O)
One allele is inherited from each parent.
Remember Homologous chromosomes Pg 206
1. Same length
2. Centromeres in the same location
3. Contain genes for the same traits
4. Receive one from each parent
5. Chromosomes come in pairs therefore so do genes. (800- 1500 nbp)
Phenotype:
The physical trait expressed in the organism
Ex. Brown eyes
 Genotype :
The alleles that the individual possesses .
Ex For brown eyes : either Bb , or BB
DOMINANT ALLELES :
The allele that is expressed ( shows up in the phenotype) B= brown eyes b = blue eyes
Brown eyes dominant over blue eyes
Recessive Alleles:
The allele that will be masked in the presence of the dominant allele.
Ex. Bb = brown eyes
Bb= genotype
Brown eyes = phenotype
Homozygous dominant BB = brown eyes
Homozygous recessive bb = blue eyes
LAW OF SEGREGATION : ( MENDEL’S 2nd LAW) 3PARTS :
1. Alternative versions of genes account for
variations in inherited characteristics.
This is the concept of alleles.
2. For each characteristic, an organism inherits two alleles, one from each parent.
3. The two alleles for each characteristic segregate during gamete production.
This means that each gamete contains only one allele for each trait.
- This law describes why tetrads split in meiosis II.
LAW OF INDEPENDENT ASSORTMENT
Mendel’s 3rd Law:
This law states that inheritance of one trait will not affect the inheritance of another trait.
-This occurs in anaphase I when homologous tetrads independently migrate to the secondary gametes
Mendel’s Law of independent assortment:
The two pairs of alleles act independently or each other. They will act like a monohybrid cross.

Some genes will be found on the same chromosome so will not assort independently during anaphase I.
Mating the dihybrids to produce an F2 generation

 9/16 of the offspring were round-yellow

 3/16 were round-green
 3/16 were wrinkled-yellow, and
 1/16 were wrinkled-green
Dihybrids that are not linked will turn out phenotypes in 9:3:3:1 proportion.
If they don’t you can assume linkage group.
-Linkage groups contradict the Law of independent assortment .
-Many genes are located on the same chromosome, and they do not assort independently, instead, they
are inherited together, they won't follow the normal rules of punnet squares, and the ratios obtained from
crosses do not have the normal ratios.
Monohybrid: Hybrid for one trait
Bb Brown and blue eyed allele
Dihybrid: hybrid for two traits
Bb Cc eye color and hair straightness

When performing crosses with linkage groups draw a picture of the chromosomes to show how they are inherited.

Example: A fly that is heterozygous for long wings (Ll) and heteroyzygous for long aristae (Aa) is crossed with another fly of the same
type. AaLl x AaLl. In both cases the dominant allele is located on the same chromosome.

Before you make a punnett square, you need to consider the linkage groups.

Sketch them!

Test Cross:
Test crosses are done to identify an unknown genotype.
Usually crossed w/ an organism that is homozygous recessive for the trait.
Ex. Red Flower x White flower
(unknown genotype) x rr
-If all the offspring are red what can we conclude about the genotype of the redflower?
-If the f1 has a mix of red and white flowers what can we infer?

Dihybrid crosses:
Two different traits or pairs of alleles are being compared.
Peas ex:
Smooth: Dominant (S) wrinkled: recessive (s)
Yellow: Dominant (Y) green : recessive (y)
SSYY X ssyy
LINKAGE GROUPS (Sex-Linked)
Some pairs of genes do not assort independently
- Offspring with two combinations showed up in higher proportions than expected. This occurs because gene pairs are
carried on the same chromosome ( linked).
LINKAGE IS COMMON
Example: A fly that is heterozygous for long wings (Ll) and heteroyzygous for long aristae (Aa) is crossed with another fly
of the same Type. AaLl x AaLl. In both cases the dominant allele is located on the same chromosome.
Furthermore, all the seeds were round and yellow, showing that the genes for round and yellow are dominant.

INCOMPLETE DOMINANCE :
Neither allele masks the presence of the other and therefore a heterozygote has a different phenotype than from either homozygote
forms.
Ex. Red flower x white flower
CODOMINANCE:
- Similar to incomplete dominance
- Both alleles are expressed in heterozygotes phenotype
- In Codominance, the "recessive" & "dominant" traits appear together in the phenotype of hybrid organisms.
o Ex sickle cells contain
 1. Sickle cell hemoglobin
 2. Normal hemoglobin
Ex. 1. red x white ---> red & white spotted
2. Blood type A and B --- > Blood type AB

DNA TO PROTEIN
Deoxyribonucleic Acid
 Portions of DNA are called genes.
 DNA is tightly wound into chromosomes and located in the nucleus of cells.
 DNA cannot leave the nucleus.
 DNA is DOUBLE STRANDED(2 sides)
 The building blocks of DNA are called Nucleotides.
 One nucleotide is made of 3 important things:
1. 5-Carbon Sugar Deoxyribose
2. Phosphate 3. Nitrogen base
 There are 4 nitrogen bases in DNA: Adenine, Guanine, Cytosine, and Thymine that pair together)
AT C G

Ribonucleic Acid
 RNA is SINGLE STRANDED and does not have to stay in the nucleus!
 RNA is not found in chromosomes because it does not carry the genetic code.
 However it can read the DNA code and take the information out of the nucleus.
 RNA’s main job is to build proteins!
 The building blocks of RNA are Nucleotides, just like DNA.
 A Nucleotide in RNA is still made of 3 important things:
1. 6-Carbon Sugar - Ribose (instead of Deoxyribose)
2. Phosphate
3. Nitrogen base
There are 4 nitrogen bases in RNA, A,G,C, and U that pair together)
 AàU C àG
Three Main Types of RNA
1. Messenger RNA (mRNA) - Carries copies of instructions for the assembly of amino acids into proteins from DNA to the
rest of the cell (serve as “messenger”)
2. Ribosomal RNA (rRNA) – Makes up the major part of ribosomes, which is where proteins are made.
3. Transfer RNA (tRNA) - Transfers amino acids to ribosomes during protein synthesis
Proteins
 Made up of a chain of amino acids.
 Proteins are enzymes, which catalyze and regulate chemical reactions.
2 Steps to Make a Protein
Transcription
DNA → RNA
Translation
RNA → Protein (Chain of amino acids)
When transcription needs to take place, DNA must provide the code in order to create an mRNA strand.
mRNA will be able to leave the nucleus and now it has the code transcribed inside it’s base pairs!
To summarize, genes program protein synthesis via genetic messenger RNA.
The molecular chain of command in a cell is

DNA → RNA → protein.

This is referred to as the Central Dogma of Biology

Flow of Information:
DNA ------------ RNA ------------ > Proteins
Transcription Translation
Transcription is the process by which a molecule of DNA is copied into a complementary strand of RNA.
This is called messenger RNA (mRNA) because it acts as a messenger between DNA and the ribosomes where protein
synthesis is carried out.
Transcription process
 RNA polymerase (an enzyme) attaches to DNA at a special sequence that serves as a “start signal”.
 The DNA strands are separated and one strand serves as a template.
 The RNA bases attach to the complementaryDNA template, thus synthesizing mRNA.
 The RNA polymerase recognizes a termination site on the DNA molecule and releases the new mRNA molecule.
 (mRNA leaves the nucleus and travels to the ribosome in the cytoplasm.)
Translation is the process of decoding a mRNA molecule into a polypeptide chain or protein.
 Each combination of 3 nucleotides on mRNA is called a codon or three-letter code word.
 Each codon specifies a particular amino acid that is to be placed in the polypeptide chain (protein).
 A three-letter code is used because there are 20 different amino acids that are used to make proteins.
 If a two-letter code were used there would not be enough codons to select all 20 amino acids.
 That is, there are 4 bases in RNA, so 42 (4x 4)=16; where as 43 (4x4x4)=64.
 Therefore, there is a total of 64 codons with mRNA, 61specify a particular amino acid.
 This means there are more than one codon for each of the 20 amino acids.
 The remaining three codons (UAA, UAG, & UGA) are stop codons, which signify the end of a polypeptide chain
(protein).
 Besides selecting the amino acid methionine, the codon AUG also serves as the “initiator” codon, which starts the
synthesis of a protein
 Transfer RNA (tRNA)
 Each tRNA molecule has 2 important sites of attachment.
 One site, called the anticodon, binds to the codon on the mRNA molecule.
 The other site attaches to a particular amino acid.
 During protein synthesis, the anticodon of a tRNA molecule base pairs with the appropriate mRNA codon.
Ribosome:
 Are made up of 2 subunits, a large one and a smaller one, each subunit contains ribosomal RNA (rRNA) &
proteins.
 Protein synthesis starts when the two subunits bind to mRNA.
 The initiator codon AUG binds to the first anticodon of tRNA, signaling the start of a protein.



 The anticodon of another tRNA binds to the next mRNA codon,

bringing the 2nd amino acid to be placed in the protein.
 As each anticodon & codon bind together a peptide bond forms
between the two amino acids.
 The protein chain continues to grow until a stop codon reaches the
ribosome, which results in the release of the new protein and mRNA,
completing the process of translation.