1-2 Genetic lecture

2020-11-04

1.Introduction to genetics.
2.Cell reproduction: cell cycle.
3.Mitosis. Genetic consequences of the cell cycle.
4.Meiosis. Sources of genetic Variation in meiosis.
5.Male gametogenesis (Spermatogenesis).
6. Female gametogenesis (Oogenesis).
7.Basic principles of heredity discovered by G. Mendel
(monohybrib, dihybrid, test crosses).
8.Extensions and modifications of basic principles (gene
interaction, expressivity and penetrance).

Dr.Margarita Sriubienė
2020 1
LUHS
References:

1-6.Benjamin A. Pierce Genetics, A Conceptual approach, Fifth

edition, 2014 p.17-45
7.Benjamin A. Pierce Genetics, A Conceptual approach, Fifth edition,
2014 p.46-64.
8.Benjamin A. Pierce Genetics, A Conceptual approach, Fifth edition,
2014 p.103-119

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Genetics is a branch of biology concerned with the study
of genes, genetic variation, and heredity in organisms.

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Cells are of two basic types: eukaryotic and prokaryotic.
Structurally, cells consist of two basic types, although,
evolutionarily, the story is more complex.
Prokaryotic cells lack a nuclear membrane and possess no
membrane-bounded cell organelles, whereas eukaryotic cells
are more complex, possessing a nucleus and membrane bounded
organelles such as chloroplasts and mitochondria.

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The gene is the fundamental unit of heredity.
The precise way in which a gene is defined often varies, depending
on the biological context.
Gene is a unit of information that encodes a genetic characteristic.
We will enlarge this definition as we learn
more about what genes are and how they function.

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Genes come in multiple forms called alleles.
A gene that specifies a characteristic may exist in several forms,
called alleles.

A gene for coat color in cats may exist as an allele that encodes
black fur or as an allele that encodes orange fur.

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Genes confer phenotypes.
One of the most important concepts in genetics is the
distinction between traits and genes.
Traits are not inherited directly. Rather, genes are inherited
and, along with environmental factors, determine the
expression of traits.
The genetic information that an individual organism possesses is
its genotype; the trait is its phenotype.
For example, albinism seen in some Hopis (The Hopi are a Native
American tribe, who primarily live on the Hopi Reservation in
northeastern Arizona) is a phenotype, the information in OCA2
genes that causes albinism is the genotype.

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Genetic information is carried in DNA and RNA.
Genetic information is encoded in the molecular structure
of nucleic acids, which come in two types: deoxyribonucleic
acid (DNA) and ribonucleic acid (RNA).
Nucleic acids are polymers consisting of repeating units called
nucleotides; each nucleotide consists of a sugar, a phosphate,
and a nitrogenous base.

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The nitrogenous bases in DNA are of four types:
adenine (A),
cytosine (C),
guanine (G),
thymine (T).
The sequence of these bases encodes genetic information.

DNA consists of two complementary nucleotide strands.

Most organisms carry their genetic information in DNA, but
a few viruses carry it in RNA.
The four nitrogenous bases of RNA are:
adenine (A),
cytosine (C),
guanine (G),
uracil (U). 9
Genetic information is transferred from DNA to RNA
to protein.
Many genes encode traits by specifying the structure
of proteins.
Genetic information is first transcribed from DNA into RNA, and
then RNA is translated into the amino acid sequence of a protein.

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Mutations are permanent changes in genetic information
that can be passed from cell to cell or from parent to offspring.
Gene mutations affect the genetic information of only a single
gene;
chromosome mutations alter the number or the structure
of chromosomes and therefore usually affect many genes.

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Some traits are affected by multiple factors.
Some traits are affected by multiple genes that interact in complex
ways with environmental factors.
Human height, is affected by hundreds of genes as well as
environmental factors such as nutrition.

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Evolution is genetic change.
Evolution can be viewed as a two-step process:
genetic variation arises
some genetic variants increase in frequency,
whereas other variants decrease in frequency.

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Genes are located on chromosomes.
Genetic information within a cell are chromosomes, which consist of
DNA and associated proteins.
The cells of each species have a characteristic number of
chromosomes:
bacterial cells normally possess a single
chromosome;
human cells possess 46;
pigeon cells possess 80.

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Eukaryotic cell reproduction requires the processes of:
DNA replication,
copy separation,
division of the cytoplasm.
The presence of multiple DNA molecules requires a more-complex
mechanism to ensure that exactly one copy of each molecule ends up in
each of the new cells.
Cells reproduce by copying and separating their genetic information
and then dividing.

Eukaryotes possess multiple chromosomes, mechanisms exist to ensure

that each new cell receives one copy of each chromosome.
Most eukaryotic cells are diploid, and their two chromosome sets can be
arranged in homologous pairs.

Haploid cells contain a single set of chromosomes.

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Chromosomes separate through the processes of mitosis
and meiosis.
The processes of mitosis and meiosis ensure
that a complete set of an organism’s chromosomes exists in
each cell resulting from cell division.

Mitosis is the separation of chromosomes in the division of

somatic (nonsex) cells.
Meiosis is the pairing and separation of chromosomes in the
division of sex cells to produce gametes (reproductive cells).

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Reproduction and cell division

Asexual reproduction – replicate DNA, split cell contents

in half, make genetically identical offspring (except for
moccasional mutations)
MITOSIS only

Sexual reproduction - make genetically different offspring

from fusion of sex cells:
MEIOSIS – makes sex cells or gametes
MITOSIS – cell division after fertilization and to replace
dead cells after apoptosis

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Sexual reproduction consists of two processes.

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Cell cycle
1. S phase – 6-8 hours.
2. G2 phase - . 4-6 hours. Cell growth
continues.
3. M phase – 0,7 hours.
4. G1 phase (G0 phase) – 8-10 hours. The
cell grows and prepares for cell division .
The active cell cycle phases are
interphase and the M phase.
Interphase the cell grows and
prepares for cell division;
S phase, DNA synthesis
takes place;
In G2, other biochemical
events necessary for cell
division take place. Some
cells enter a quiescent phase
called G0.
The M phase includes mitosis
and cytokinesis and is divided
into prophase,
prometaphase, metaphase,
anaphase, and telophase.
The cell cycle produces two
genetically identical cells
each of which possesses a
full complement of
chromosomes.
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The cell cycle produces two genetically identical cells each of which
possesses a full complement of chromosomes.

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Each chromosome replicates prior to undergo mitosis or
meiosis

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Crossing over in meiosis I (prophase I)

Synapsis is the connecting of homologous chromosomes to

form a tetrad.
Crossing over is the sharing of genetic material between two
nonsister chromatides in a homologous pair.

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The number of new combinationsof the hereditary material
(the number of different gametes)- no crossing-over

N=2n

the number of different gametes – presence of crossing-

over

N=2n+k

n – is the number of pairs of chromosomes

k – is the number of crossing-over 28
Metaphase Anaphase

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The two mechanisms that produce genetic variation in meiosis are:
crossing over;
the random distribution of maternal and paternal
chromosomes.

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 MEIOSIS IR MITOSIS SIMILARITIES
MEIOSIS MITOSIS
1. the chromosomes contract and become 1. the chromosomes contract and become
visible; visible;
2. the movement of chromosomes toward 2. the movement of chromosomes toward
the spindle poles; the spindle poles;
3. accompanied by cell division. 3. accompanied by cell division.

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 MEIOSIS IR MITOSIS DIFERENCIES
MEIOSIS
Two cell divisions and produces four cells.
Pairing of homologous chromosomes.
Chromosome number is reduced by half as a
consequence of the separation of
homologous pairs of chromosomes in
anaphase I.
Produce genetic variation: crossing over (in
prophase I) and the random distribution of
maternal and paternal chromosomes (in
anaphase I).
Homologous pairs of chromosomes line up on
the metaphase plate.
In anaphase I paired chromosomes separate
and migrate toward opposite spindle poles,
each chromosome possessing two
chromatids attached at the centromere.
MITOSIS
Single cell division and produces two
daughter cell.
No pairing of homologous chromosomes.
No chromosome reduction takes place.
There are normally no equivalent processes
in mitosis.
Individual chromosomes line up on the
metaphase plate in metaphase.
In anaphase, sister chromatids separate, and
each chromosome that moves toward a
spindle pole is unreplicated. 32
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Spermatogenesis

Primary spermatocyte nc nc
n2c

2n2c nc nc
Spermatogonia 2n4c

n2c nc nc

Secondary spermatocyte
nc nc

Spermatids
Spermatozoa

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Ovogenesis

secondary polar bodies

nc
first polar body
n2c

Oogonia 2n2c nc
2n4c

Primary oocyte n2c nc

secondary oocyte nc

mature egg

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Genetic terminology

GENE - a genetic factor (region of DNA) that helps determine

a characteristic.
ALLELE - one of two or more alternate forms of a gene.
LOCUS - specific place on a chromosome occupied by an
allele.

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Genes exist in different versions
called alleles.
any of two or more variants of a
gene that have the same relative
position on homologous
chromosomes and are
responsible for alternative
characteristics, such as smooth
or wrinkled seeds in peas.

Nonallelic genes.

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(C)Margarita Sriubienė 2012, 2013 39
 Genetic terminology
The genotype is the set of alleles that an individual
organism possesses. A diploid organism with a genotype
consisting of two identical alleles is homozygous for that
Locus.
Homozygous dominant

Homozygous recessive

Genotype consisting of two different

alleles is heterozygous for the locus. 40
Genetic terminology

Phenotype is the manifestation or appearance of a characteristic.

A phenotype can refer to any type of characteristic—physical,
physiological, biochemical, or behavioral.

phenotype is:
round seeds,
a body weight of 50 kilograms (50 kg),
having sickle-cell anemia.

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Mendel used the pea plant Pisum sativum in his studies of heredity.
Mendel’s study of heredity was effective:
Ø The plant is easy to cultivate;
Ø Mendel had the monastery garden and greenhouse at his disposal;
Ø Peas grow relatively rapidly, completing an entire generation in a single growing
season (fruit flies complete a generation in 2 weeks and bacteria in 20 minutes)—
Ø Pea plants produce many offspring;
Ø The large number of varieties of peas (differed in various traits and were genetically
pure).
He examined seven characteristics that appeared in the seeds and in plants grown from the
seeds.:

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Concept of dominance.

The concept of dominance states that,

when two different alleles are present in
a genotype, only the trait encoded by one
of them—the “dominant” allele—is
observed in the phenotype.
P ♀SS x ♂ss
G S, S s, s
F1 Ss

Gametes ♂s ♂s
♀S Ss Ss

♀S Ss Ss

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 The principle of segregation (Mendel’s first law).

The principle of segregation

(Mendel’s first law) states that each
individual diploid organism possesses two
alleles for any particular characteristic.
These two alleles segregate (separate)
when gametes are formed, and one allele
goes into each gamete.
The two alleles segregate into gametes in
equal proportions.
P ♀Ss x ♂Ss
G S, s S, s
F1 1/4SS 1/4Ss 1/4Ss 1/4ss
Genotype 1 : 2 : 1
Phenotype 3 : 1

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The principle of independent assortment (Mendel’s second law).
Mendel carried out a number of
dihybrid crosses for pairs of
characteristics and always
obtained a 9 : 3 : 3 : 1 ratio in
the F2.
P ♀SS YY x ♂ss yy
G SY sy
F1 Ss Yy
Principle states that alleles at
different loci separate
independently of one another
9/16 S- Y-
3/16 S- yy
3/16 ss Y-
1/16 ss yy 45
Testcross

For analyzing genetic crosses is the testcross, in which

one individual of unknown genotype is crossed with
another individual with a homozygous recessive
genotype for the trait in question.
P ♀SS x ♂ss
G S, S s, s
F1 Ss
Phenotype 1

P ♀Ss x ♂ss
G S, s s, s
F1 Ss Ss ss ss
Phenotype 1 : 1

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Extensions and modifications of basic principles

Multiple alleles
Interaction between alleles
Gene interaction

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Multiple alleles

For some loci, more than two alleles are present within a group of organisms—
the locus has multiple alleles.
Although there may be more than two alleles present within a group of
organisms, the genotype of each individual diploid organism still consists of
only two alleles.
The inheritance of characteristics encoded by multiple alleles is no different
from the inheritance of characteristics encoded by two alleles, except that a
greater variety of genotypes and phenotypes are possible.

The three common alleles for the ABO blood group locus are: I , which encodes
A

the A antigen; I , which encodes the B antigen; and i, which encodes no

B

antigen (O)

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Interaction between alleles

1.Complete dominance
2.Incomplete dominance
3.Codominance

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Complete, incomplete dominance
Dominance can be understood in regard to how the phenotype of the heterozygote relates to
the phenotypes of the homozygotes. Where the heterozygote falls in the range of
phenotypes determines the type of dominance. If the heterozygote produces the same
phenotype homozygote, resulting in smooth seeds, then the A allele displays complete
dominance over the a allele. that is, smooth is dominant over wrinkle.
P AA x aa
F1 Aa
F1 Aa xAa
F2 Phenotype 3:1
AA 2Aa aa

When the heterozygote falls in between the phenotypes of the two homozygotes,
dominance is incomplete.

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Incomplete dominance

When the heterozygote falls in between the phenotypes of the two homozygotes,
dominance is incomplete.

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Codominance

Codominance, in which the phenotype of the heterozygote is not intermediate between the
phenotypes of the homozygotes; rather, the heterozygote simultaneously expresses the
phenotypes of both homozygotes.

An example of codominance is seen in the MN blood types.

Homozygotes with genotype L M LM , express the M antigen and have the M blood
type.
Homozygotes with genotype LN LN express the N antigen and have the N blood
type.
Heterozygotes with genotype LM LN exhibit codominance and express both the M and the N
antigens; they have blood-type MN.

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Gene interaction

1. Complementary genes.
2. Epistatic genes.
3. Polygenes.

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Complementary genes – Phenotypic ratio 9:3:3:1

It is phenomenon, when two interacting non-allelic gene pairs

modify each other action and determine the occurrence of a novel
trait different from those that might have been formed in the
absence of the interaction.
P RRpp x rrPP
Rose comb. Pea comb
F1 RrPp
Walnut comb
F1 RrPp x F1 RrPp
F2
9/16 R-P- walnut comb
3/16 R-pp rose comb
3/16 rrP- pea comb
1/16 rrpp single comb

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Complementary genes – Phenotypic ratio 9:6:1

Complementary genes acting

separately cause the same trait
and being together result in a
new phenotype.

9:6:1
A-B- disc shaped 9/16
A-bb sphere shaped 3/16
aaB- sphere shaped 3/16
Aabb long shaped 1/16

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EPISTASIS

Epistasis is the masking of the expression of one gene by another

gene at a different locus.
The epistatic gene does the masking.
The hypostatic gene is masked.
Epistatic genes can be dominant or recessive.

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 Recessive epistasis – Phenotypic ratio 9:3:4
Recessive epistasis - the presence of two
recessive alleles (the homozygous
genotype) inhibits the expression of an
allele at a different locus.
9:3:4
A- uneven distribution of the black pigment in
the mice hair
aa -even distribution of the black pigment in
the mice hair
C- governs synthesis of the black pigment
cc prevents pigment formation (white mice)
9/16 A-C- agouti
3/16 aaC- black
3/16 A-cc white (cc alleles inhibit A gene)
1/16 aacc white
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Duplicate Recessive epistasis – Phenotypic ratio 9:7

Two recessive alleles pp or cc at either of two loci are capable of suppressing a

phenotype.
9/16 C-P- purple
3/16 C-pp white
3/16 ccP- white
1/16 ccpp white
9:7

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Dominant epistasis – Phenotypic ratio 13:3
Dominant epistasis, only a single copy of an allele is required to inhibit
the expression of the allele at a different locus.
In certain breeds of domestic fowl, the individuals are white because
of a dominant epistatic allele I.
I epistatic allele – inhibits activity C
C hipostatic allele responsible for pigment synthesis
ii do not show inhibitory action
cc cause no pigment synthesis
Phenotypic ratio 13:3
9/16 C-I- white
3/16 C-ii speckled
3/16 ccI- white
1/16 ccii white
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Genetic phenomenons

Ekspressivity
Penetrance
Pleiotropy

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Penetrance
Penetrance is defined as the percentage of individual organisms having a particular
genotype that express the expected phenotype.

For example, if we examined 42 people having an allele for polydactyly and found
that only 38 of them were polydactylous, the penetrance would be 38/42 = 0.90
(90%).

Incomplete penetrance is seen in human polydactyly, the condition of having extra fingers and toes.
There are several different forms of human polydactyly, but the trait is usually caused by a dominant
allele. Occasionally, people possess the allele for polydactyly (as evidenced by the fact that their children
inherit the polydactyly) but nevertheless have a normal number of fingers and toes. In these cases, the 61
gene for polydactyly is not fully penetrant.
Expressivity, the degree to which a character is expressed.

In addition to incomplete penetrance, polydactyly exhibits variable expressivity. Some polydactylous

persons possess extra fingers and toes that are fully functional, whereas others possess only a small tag
of extra skin.

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Pleiotropy
Pleiotropy –occurs when one gene influences two or more seemingly
unrelated phenotypic traits.
Marfan syndrome: is a genetic disorder of the connective tissue. The
degree to which people are affected varies. People with Marfan tend to be
tall and thin, with long arms, legs, fingers and toes. They also typically
have flexible joints and scoliosis.

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Lethal genes

Lucien Cuenot reported the first case of a lethal

allele, the allele for yellow coat color in mice. A
lethal allele causes death at an early stage of
development—often before birth—and so some
genotypes may not appear among the progeny.
AY – allele for yellow color of fur
A – allele for black color of fur

P AY A AY A
G AY, A AY, A
F1 1/4 AYAY, 2/4 AYA, 1/4AA
death

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