UNIT 2

GENETICS

Blending Theory of Inheritance

• people believed in this theory before

• both parents contribute equally to a new individual
• inheritable traits of both parents blend or fuse to produce offspring of intermediate
appearance

e.g. smooth + wrinkly = semi-wrinkly → blending inheritance

Genetics - science that deals with heredity

• Gregor Johann Mendel (1822-1884)

o Father of Genetics
o First person to formulate the principles of heredity (which is how traits are passed
on from parent to offspring)
o Austrian monk living in Brunn, Moravia
actually poor
almost went into teaching
went to the monastery where he met Abbott Cyril Napp (a botanist)
Abbott Cyril Napp realized that Mendel is intelligent and
knowledgeable about inheritance
Mendel has a lot of ideas that are not conforming to their beliefs at
that time
the monastery helped Mendel to enter University of Vienna where
he studied physics, chemistry, and botany
o He went back to the monastery and bred peas in monastery garden from 1856 to
1864
o Discoveries were published in 1866 but remained unappreciated and forgotten
until 1900
• Mendel's Investigations
o Mendel chose to work with pure strains of garden peas → aka true strains; when
you self pollinate a pure strain, all of its offspring should have the same
characteristics as the pure strain (pure strain: green pods then offspring: green
pods)

e.g. dwarf and tall varieties

He used garden peas since each generation of garden peas can be easily
seen and pea plants take a relatively short period of time for it to generate
Pea plants have the male and female gametes and reproductive parts in one
plant (they have the ability to self polinate)
 The pea plants he observed has alternative characteristic for each
characteristic (contrasting traits per character)
character -e.g. flower color
trait - alternative forms of character (e.g. one trait could be purple
flower, one trait could be white flower)
Mendel realized that there are always two contrasting traits for
each of the characters on the plant
o The plants were self-fertilizing but he also subjected to experimental cross-
fertilization
o He studied single characteristics that displayed sharply contrasting traits:
green vs yellow pods
round vs wrinkled seeds
inflated vs constricted pods
terminal vs axial flower positions
yellow vs green seed
purple vs white flowers
long vs short stems
• Chromosomal Basis of Inheritance
o Meiosis: Reduction Division of Gametes
Sex cells (gametes) transmit genetic information from parents to offspring
in sexually reproducing organisms
Chromosomes occur in pairs: homologs
One member of the pair is donated by the mother, the other by the
father
Homologs
Contain similar genes encoding the same set of characteristics
Chromosomes have lines which are the locus; each locus
has the same character to code for each homologs
Alternative of each gene (e.g. one for purple, one for white
flower)
Crossing over occurs in homologous pair of chromosomes
during Prophase I; crossing over creates variation in the
traits of the next generation (daughter cells/gametes)
Usually have the same size and shape
o Meiosis
Special type of nuclear division
Associated with gamete production
Genetic material replicates (before early prophase) once followed
by 2 successive nuclear divisions
Starts with diploid set of chromosomes then produces 4 daughter
cells with haploid set of chromosomes (half of the original set of
chromosomes to each of the daughter cells)
Each with only 1 member of each homologous
chromosome pair or 1 set of chromosomes (haploid)
o Fertilization
Reestablishes the diploid chromosome number
 Union of egg and sperm produces a zygote (single cell)
Contains chromosomes of egg and sperm or 2 sets of chromosomes
(diploid/2n)
o Sex Determination in Humans
46 chromosomes (23 pairs of homologous chromosomes) in somatic cells
Pairs 1-22: Autosomes (do not determine sex but associated with
the characteristics we have)
Pair 23: Sex Chromosomes (determine sex)
Two sex chromosomes: X, Y
Males: XY Females: XX
X and Y are heteromorphic → unlike the paired autosomes, sex
chromosomes X and Y are different from each other in terms of size and
shape; do not contain the same linear sequence of genes
• Mendelian Laws of Inheritance
o insert image
o Mendel cross-pollinated pure-line tall plants with pollen from pure-line dwarf
plants

Character: length of stem

2 Traits: long and short (tall and dwarf)

Monohybrid cross
A cross involving variation at a single locus (only looking at one
character with two contrasting traits)
Results
Progeny of F1 generation (first filial generation): All Tall
Plants
Reciprocal cross gave same results
o Next: Mendel self-fertilized the tall F1 plants
The progeny of F2 generation produced tall and dwarf plants in a ratio of
3:1 (TT, Tt, Tt, tt)
He called the tall factor as dominant and the sort factor as recessive

(if you cross an individual with a dominant factor with an individual with
a recessive factor, the offspring will get the dominant trait)

Used capital letter (T) to denote dominant trait and corresponding

lowercase letter (t) to denote the recessive trait
Genotype: referring to a symbol of the genes
Phenotype: actual trait of a particular character
Homozygous dominant (homozygous tall: TT)
Heterozygous tall (Tt)
Recessive dwarf (tt)
o Mendel's First Law
 In the formation of gametes, paired factors that may specify alternative
phenotypes (visible traits e.g. color, shape) separate so that each gamete
receives only one member of the pair

**insert image

o Finally, Mendel allowed plants in the F2 generation to self-fertilize:

All dwarf plants produced only dwarf plants
1/3 of tall plants produced tall plants
2/3 of tall plants produced tall plants and dwarf plants
o Mendel's "factors" are called genes today
Each factor has an alternate forms of a gene for the same trait (dominant
and recessive) and they are termed alleles (T, t)
o Testcross (Punnett square)
If an allele is dominant:
Heterozygous individuals have the same phenotype as
homozygous dominant individuals
Impossible to determine the genotype by observing the phenotype
hence testcross is performed to determine the genotype
Crossing an individual of unknown genotype with a
homozygous recessive individual

**insert image

o Monohybrid Cross
Given: I - inflated pod shape, i - constricted pod shape
Cross: male homozygous inflated pod with female heterozygous inflated
pod
What would be the resulting F1 generation?

*insert image

o Mendel's Second Law

he crossed individuals which were pure line tall and pure line yellow x
pure line dwarf and pure line green
he found out that all of the offspring had tall and yellow seeds (F1
generation)
he then fertilized the F1 generation
getting all possible traits *insert image
he found out that the two characters are not linked together, they are
separate
Genes located on different pairs of homologous chromosomes assort
independently during meiosis
Pertains to studies of 2 pairs of hereditary factors that are done at
the same time
 Mendel performed experiments using pea strains differing by 2 or
more phenotypic characters controlled by genes located on
different (nonhomologous) chromosomes
o Exceptions to Mendel's Law (extensions)
Incomplete dominance - no allele is completely dominant over the other

e.g. Incomplete dominance in Mirabilis jalapa

Parents: RR and WW

F1 Generation: All are Pink (RW) flowers

F2 Generation: 1 Red: 2 Pink: 1 White

*insert image

Codominance - both traits are expressed at the same time

fibers intersperse = roan

e.g. Cattle (roan colored cattle)

RR and WW = RW RW RW RW

*insert image

Multiple Alleles
Many dissimilar alleles can exist in a population (it occurs because
of mutations)
Multiple alleles arise through mutations at the same gene locus at
different times

e.g. Human ABO blood groups

I^A= Blood Type A

I^B= Blood Type B

i= Blood Type O

wherein I^A and I^B are equally dominant to each other but both
dominant to i

*rh factor: positivity and negativity (to check compatibility only; only has
to do about “what will happen to the zygote or fetus in the womb of
mother”)
Sex-Linked Inheritance
Traits are specified by genes located on sex chromosomes
Designated as X-Linked or Y-Linked
X-Linked Traits
Most sex-linked traits are X-Linked
Genes located on the X sex chromosome

e.g. Hemophilia - blood doesn't clot normally

because it lacks sufficient blood-clotting proteins
(clotting factors) (they say it can be found in royal
families)

hemophilia is linked to the x chromosome

*insert image

*also the case for color blindness

Chromosomal Aberrations
not everything is perfect when meiosis happens
Structural and numerical deviations from the norm that affect
many genes at once
5 out of every 1000 people are born with serious genetic defects
attributable to chromosomal anomalies
Changes in chromosome number
Euploidy
Addition or deletion of whole sets of
chromosomes
Polyploidy
most common type of
euploidy
occurrence of 3 or more sets
of chromosomes in an
organism (e.g. double or
triple parts in an animal;
fruits will be larger in plants,
leaves will be abundant, etc.)
more common in plants
(good for plants) than
animals (dangerous in
animals)
some common polyploid
plants are: *insert image
Aneuploidy
 Usually cause by failure of a pair of
homologous chromosomes to separate
during meiosis (nondisjunction)
Monosomy
1 less chromosome relative to
the diploid parental number
Trisomy
1 extra chromosome relative
to the diploid parental
number (e.g. trisomy 21
causes down syndrome)

Additional info:

The goal of having a next generation is always to have a variation

because you want the next generation to have the best traits
If incest happens (sexual relation with someone who has almost
similar genetic makeup as you do), all the bad traits will join
altogether
o Changes in Chromosome Structure

→ what happens in the chromosome

Inversion
Portion of a chromosome that will be reversed *insert image
Deletion
Entire blocks of genes are lost

*insert image

Translocation
Nonhomologous chromosomes exchange sections

*insert image

Duplication
Extra section od chromosomes attached
Rare
Important for evolution: Supply additional genetic information that
may enable new functions
Sometimes good (more variation → can be a better version)

*insert image

o Chromosomal Theory of Inheritance

 The idea that Mendel's hereditary factors (genes) are located on the
chromosome
Studied by Walter Sutton (1877-1916) and Theodor Boveri (1862-
1915) — investigated the behavior of chromosomes during sperm
formation in grasshoppers
Further supported by experiments performed by Thomas Hunt Morgan
(1866-1945) on Drosophila melanogaster (fruit fly) which had 3 pairs of
autosomes and 1 pair of sex chromosomes (fruit flies generate fast)
The male X and Y chromosomes separate at meiosis I, producing
two types of sperm — sperm with the Y chromosome and sperm
with X chromosome
The female fly produces eggs with one X chromosome and 3 non-
sex chromosomes. If an egg with its X is fertilized by a sperm with
the Y chromosome — male fly, if fertilized by a sperm with the X
chromosome — female fly
o Genes on the chromosomes
Genes are on the chromosomes
Gene - segment of DNA, a genetic material that encodes a unique protein
that makes up an individual
DNA carries genetic information and is able to self-replicate and undergo
mutation
Cells contain 2 kinds of nucleic acids
DNA: deoxyribonucleic acid
RNA: ribonucleic acid
DNA and RNA are polymers of nucleotides
A nucleotide is composed of:
Pentose sugar
Nitrogenous base
Phosphate group

*insert image

o Storage and Transfer of Genetic Information

Pentose Sugar
RNA: Ribose (1 more oxygen)
DNA: Deoxyribose (1 less oxygen)
Nitrogenous base attached to 1st Carbon
Phosphate group is attached to the 5th Carbon
*insert image

Nitrogenous Bases
Purines
Adenine and Guanine
Larger than pyrimidines because they are composed of 2
fused rings
 Pyrimidines
RNA: Cytosine and Uracil
DNA: Cytosine and Thymine
Smaller than purines
6-membered ring

*insert image

In DNA
Purines base pair with the PYRIMIDINES
A-T
G -C
3 hydrogen bonds between C and G
2 hydrogen bonds between A and T

*insert image

• *insert table 5.2

o DNA is a double stranded molecule
o Strands are joined by hydrogen bonding between the bases
Imagine the DNA as stairs where you have phosphate and sugar in the
banisters and the pathway is the bases
o Strands have complementary base pairing: C-G and A-T
o The DNA backbone
Phosphate groups and pentose sugars
o The 5' end of each strand has a free phosphate group attached to the 5' carbon of
the pentose sugar
o The 3' end has a free hydroxyl group attached to the 3' carbn of the pentose sugar

*insert image

o DNA synthesis occurs in the 5' to 3' direction in both strands

o The DNA strands are antiparallel
5' end of one is associated with the 3' end of the other
o The DNA ladder is twisted into a double helix
Ten base pairs occur per turn
o DNA vs RNA
DNA - Deoxyribose (one less oxygen atom); RNA - Ribose (one more
oxygen atom)
DNA contains A, G, C, T; RNA contains A, G, C, U
DNA - double helix; RNA - single chain and does not entwine
3 types of RNA
Messenger RNA (mRNA) - carries a copy of a message transcribed
on DNA out of the nucleus and into the cytoplasm (mRNA is
created in the area of nucleolus)
 Transfer RNA (tRNA) - transports individual amino acids to the
sites of protein synthesis (protein synthesis occurs in ribosomes)
Ribosomal RNA (rRNA) - along with proteins, makes up the
ribosomes; holds mRNA and tRNA molecules in just the right
position to make polypeptides (whole proteins)
• Central Dogma of Molecular Biology

*insert image

mRNA is actually transcribed from the information of DNA → one strand is going to be
transcribed into mRNA which is a complement of DNA strand → when you transcribe
into a single-stranded mRNA, the transcribed mRNA is going to leave the area of the
nucleus and go towards the area of cytoplasm → it will then go to the area of ribosomes
and stay in the area of rRNA and ribosome proteins → tRNA (carrying the amino acids)
will then go and the mRNA is going to be translated into amino acids → amino acids
bind together in the area of ribosomes forming proteins or polypeptides

o Transcription
the DNA sequence of a gene is copied to make an RNA molecule
o Translation
the RNA sequence is translated into a sequence of amino acids as the
protein is formed
o Reverse Transcription
process by which genetic information from RNA gets transcribed into new
DNA