Sexual Reproduction

and Genetics
Chapter 19

Reporter: BASTISMO, ILEN

BSED SCIENCE-2
 Chapter Contents
qTHE BENEFITS OF SEX
qMEIOSIS AND FERTILIZATION
qMENDELL AND THE LAWS OF INHERITANCE
qGENETICS AS AN EXPIREMENTAL TOOL
qEXPLORING HUMAN GENETICS
INTRODUCTION
Sexual reproduction involves the cyclic alternation of diploid and haploid
states: diploid germ-line cells divide by meiosis to form haploid gametes,
and the haploid gametes from two individuals fuse at fertilization to form a
new diploid cell—the zygote. During meiosis, the maternal and paternal
homologs are parceled out to gametes such that each gamete receives
one copy of each chromosome. Because the segregation of these
homologs occurs randomly, and crossing-over occurs between them,
many genetically different gametes can be produced from a single
individual.
 THE BENEFITS OF SEX
ØSexual Reproduction Involves both Diploid and Haploid
Cells
ØSexual Reproduction Generates Genetic Diversity
ØSexual Reproduction Gives Organisms a Competitive
Advantage in a Changing Environment.
 A HYDRA REPRODUCES BY
BUDDING

This form of asexual

reproduction involves the
production of buds (arrows)
Which eventually pinch off to
form progeny that are genetically
identical to their parent.
 Sexual Reproduction Involves both Diploid and Haploid Cells

Diploid- It is a organism that reproduce sexually and their cells contain

two sets of chromosomes—one inherited from each parent. The
maternal chromosome set and the paternal chromosome set are very
similar, except for their sex chromosomes
The gametes—are haploid: they each contain only one set of
chromosomes.
A gamete is the scientific term for a sex cell.
In animals, the gametes are the sperm and the egg cells.
In flowering plants, the gametes are the pollen and the egg cells.
Asexual reproduction: give rise to offspring that genetically
identical to parent organism
Sexual reproduction: involves the mixing of DNA from two
individuals to produce offspring that are genetically distinct
from one another and from both their parents.
Sexual reproduction involves the cyclic alternation of diploid
and haploid states: diploid cells divide by meiosis to form
haploid gametes
 SEXUAL REPRODUCTION AND
GENETICS

Sexual reproduction - Are two genomes merge to form the genome

of a new individual. The mechanism that govern genetic inheritance in
sexually reproducing organism are therefore different, and more
complex. It allows the genetic information of two parents to
recombine to form a new individual. One great advantage, from the
population biology point-of-view, is that sexual
reproduction produces a great deal of genetic variation through the
shuffling of both beneficial and deleterious mutations.
Diploid:
Each cells contains 2 sets of chromosomes (one inherited from each parent)
• Each diploid cells, carries two copies of every gene (except for those on sex chromosomes,
which may be present in only one copy)
• Because 2 parents are members of the same species, both sets of every chromosome called
maternal and paternal homologs- carry the same set of genes.

Haploid:
Only one set of chromosomes ,and gametes or germ cells are haploid
• In animals, egg and sperm- egg is large and nonmotile while sperm is opposite and the two
join to form a diploid cell, called a fertilized egg or zygote which contains chromosomes
from both parents
• The zygote then develops into a new individual with a diploid set of chromosomes that is
distinct from that of either parent.
 Despite their tremendous difference in size, sperm and egg contribute
equally to the genetic character of the offspring.

Difference in size between male and female

gametes (in which eggs contain a large
quantity of cytoplasm, whereas sperm
contain almost none) is consistent with the
fact that the cytoplasm is not the basis of
inheritance.
If it were, the female’s contribution to the
makeup of the offspring would be much
greater than the male’s.
Sexual Reproduction Involves both
Diploid and Haploid Cells
 Sexual reproduction involves both haploid and
diploid cells.

Germ-line cells and somatic cells carry out fundamentally different functions.
In sexually reproducing animals, diploid germ-line cells, which are specified early in
development, give rise to haploid gametes by meiosis.
The gametes propagate genetic information into the next generation. Somatic cells
(gray) form the body of the organism and are therefore necessary to support sexual
reproduction, but they themselves leave no progeny.
 MEIOSIS AND FERTILIZATION

Meiosis Involves One Round of DNA Replication

Followed by Two Rounds of Nuclear Division
Ø Mitosis and meiosis both begin with a round of chromosome duplication. In
mitosis, chromosome duplication is followed by a single round of cell division to
yield two diploid nuclei.
Ø In meiosis, chromosome duplication in a diploid germ-line cell is followed by two
rounds of division, without further DNA replication, to produce four haploid
nuclei.
Ø N represents the number of chromosomes in the haploid nucleus.
• During meiosis, the maternal and paternal
chromosomes of a diploid cell are parceled out to
gametes so each gamete receives only one copy of
each chromosome. Because the assortment of the
two members of each chromosome is random,
many genetically different gametes can be produced
from one individual
 Meiosis produces four nuclei that are genetically dissimilar and
that contain exactly half as many chromosomes as the original parent

Before a diploid cell divides by mitosis, it duplicates all of its chromosomes.

This duplication allows a full set of chromosomes—including a complete maternal set plus a complete
paternal set—to be transmitted to each daughter cell
MEIOSIS AND FERTILIZATION
Duplicated Homologous Chromosomes Pair During Meiotic Prophase
Duplicated Homologous Chromosomes Pair
During
Meiotic Prophase

Before a eukaryotic cell divides—by either meiosis or

mitosis—it first duplicates all of its chromosomes. The twin
copies of each duplicated chromosome, called sister
chromatids, are tightly linked along their length. The way
these duplicated chromosomes are handled subsequently,
however, differs between meiosis and mitosis. In mitosis,
the duplicated chromosomes line up, single file, at the
metaphase plate. They are then segregated into the two
daughter nuclei.
Crossing-Over Occurs Between the Duplicated Maternal and Paternal
Chromosomes in Each Bivalent
• The
Second Meiotic Division Produces Haploid
Daughter Nuclei
Haploid Gametes Contain Reassorted Genetic Information
Meiosis I
•The sexual life cycle in animals
involves meiosis.
Sexual Reproduction and Genetics
•Meiosis produces gametes.
Meiosis
•When gametes
combine in fertilization, the number of
chromosomes is restored.
Stages of Meiosis I
•Reduces the chromosome number by half through the separation of
homologous chromosomes
Sexual Reproduction and Genetics
•Involves two consecutive cell divisions called meiosis I and meiosis II
•Interphase
•Chromosomes replicate.
•Chromatin condenses.
•Prophase I
•Pairing of homologous chromosomes occurs.
•Each chromosome consists of two chromatids.
•The nuclear envelope breaks down.
•Spindles form.
•Prophase I
•Crossing over produces exchange of genetic information.
•Crossing over—chromosomal segments are exchanged between a pair of
homologous chromosomes.

•Metaphase I
•Chromosome centromeres attach to spindle fibers.
•Homologous chromosomes line up at the equator.

•Anaphase I
•Homologous chromosomes separate and move
to opposite poles of the cell.

•Telophase I
•The spindles break down.
•Chromosomes uncoil and form two nuclei.
•The cell divides.
Meiosis II •Meiosis II Meiosis II
•Prophase II •Metaphase II •Anaphase II
Sexual

A second set of A haploid number of The sister chromatids

phases begins as the chromosomes line up are pulled apart at the
spindle apparatus at the equator. centromere by spindle
forms and the fibers and move toward
chromosomes the opposite poles
condense. of the cell.
Meiosis II Meiosis II
•Telophase II •Cytokinesis results in four haploid
•The chromosomes reach the poles, and cells, each with n number of
the nuclear membrane and nuclei reform
chromosomes.

The Importance of Meiosis

•Meiosis consists of two sets of divisions
•Produces four haploid daughter cells that are not identical
•Results in genetic variation
Meiosis Provides Variation
•Depending on how the chromosomes line up at the equator,
four gametes with four different combinations of
chromosomes can result.
•Genetic variation also is produced during crossing over and
during fertilization, when gametes randomly combine.
 MENDEL AND THE LAWS OF INHERETANCE

In organisms that reproduce asexually, the genetic material of the parent

is transmitted faithfully to its progeny. The resulting offspring are thus
genetically identical to a single parent. Before Mendel started working
with peas, some biologists suspected that inheritance might work that
way in humans
•The passing of traits to the next generation is called
inheritance, or heredity.
•Mendel performed cross-pollination in pea plants.
•Mendel followed various traits in the pea plants he bred.

•The parent generation is also known as the P

generation.
Mendel Disproved the Alternative Theories of Inheritance

The breeding experiments that Mendel performed were straightforward.

He started with stocks of genetically pure, “true-breeding” plants—those
that produce offspring of the same variety when allowed to self-fertilize.
True-breeding varieties,
when cross-fertilized with each
other, produce hybrid offspring
that resemble one parent. In this
case, true-breeding green-pea
plants, crossed with true-
breeding yellow-pea plants,
always produce offspring with
yellow peas.
The offspring of this P cross are called the first filial
(F1) generation

The appearance of the

F2 generation shows that an
individual carries two alleles of
each gene. When the F1 plants.
-are allowed to self-fertilize (or are
bred with each other),
25% of the progeny produce green
peas.
• Parent plants produce
gametes that each contain
one allele for each trait; the
phenotype of the offspring
depends on which
combination of alleles it
receives.

• The second filial (F2)

generation is the offspring
from the F1 cross
 Genes in Pairs Genotype and Phenotype
•Allele •An organism’s allele pairs are called
•An alternative form of a single gene its genotype.
passed from generation to generation •The observable characteristic or outward
•Dominant expression of an allele pair is called
•Recessive the phenotype

Dominance
•An organism with two of the same alleles for
a particular trait is homozygous.
•An organism with two different alleles for a
particular trait is heterozygous
Mendel’s Law of Segregation
Principle that the maternal and paternal alleles for a trait separate
from one another during gamete formation and then reunite
during fertilization; Mendel's first law of inheritance.

Genetics
•Two alleles for each trait separate during meiosis.
•During fertilization, two alleles for that trait unite.
•Heterozygous organisms are called hybrids.
Recessive alleles all follow the same
Mendelian laws of inheritance.
We trace the inheritance of type II
albinism, a recessive trait that is
associated with a single gene in
humans.
Normally pigmented individuals can
be either homozygous (AA) or
heterozygous (Aa) for dominant
allele A.
Monohybrid Cross
•A cross that involves hybrids for a
single trait is called a monohybrid
cross.

Dihybrid Cross
•The simultaneous inheritance of two or
more traits in the same plant is a dihybrid
cross.
•Dihybrids are heterozygous for both
traits.
Punnett Squares
•Predict the possible offspring
of a cross between two known
genotypes

Punnett Square—Dihybrid Cross

•Four types of alleles from the
male gametes and four ytpes of
alleles from the female gametes
can be produced.
•The resulting phenotypic ratio is
9:3:3:1.
GENETICS AS AN EXPIREMENTAL TOOL
Genetics provides a powerful way to discover what specific genes do and how
variations in
those genes underlie the differences between one species and another or
between individuals within a species. Such knowledge also has practical
benefits, as understanding the genetic and biological basis of diseases
can help us to better diagnose, treat, and prevent them.

The classical genetic approach begins with random Mutagenesis

The classical genetic approach – searching for mutant phenotypes and then
isolating the responsible genes.
DNA–damaging agents produce various types of
mutations.
Common types of mutation.
Spectrum mutation and other types mutation involve changes in
larger DNA, including deletion, duplication and chromosomal
rearrangements.
Spontaneous mutants with interesting phenotypes can be found
by combing through a collection of thousands or millions of organisms,
the process can be made much more efficient by generating mutations artificially with agents that
damage DNA, called mutagens.

Different mutagens generate different types of DNA mutations

SOME ESSENTIALS OF CLASSICAL GENETICS
 Genetic Screens Identify Mutants Deficient in
Specific Cell Processes
Genetic screen typically involves examining many thousands of
mutagenized individuals to find the few that show a specific altered
phenotype of interest. To search for genes involved in cell metabolism,
for example, one might screen mutagenized bacterial or yeast cells to
pick out those that have lost the ability to grow in the absence of a
particular amino acid or other nutrient
Genetic screens can be used to identify mutations that
affect an animal’s behavior.
(A) Wild-type C. elegans dine alone.
(B) Mutant worms engage in social feeding.
RNA interference provides a convenient method for conducting genome-wide
genetic screens.

In this experiment, each well in this 96-well plate is filled with E. coli that produce a
different double-stranded (ds), interfering RNA. E. coli are a standard diet for C. elegans
raised in the laboratory. Each interfering RNA matches the nucleotide sequence of a
single C. elegans gene. About 10 worms are added to each well, where they ingest the
genetically modified bacteria. The plate is incubated for several days, which gives the
RNAs time to bind to and inactivate their target genes—and the worms time to grow,
mate, and produce offspring. The plate is then examined in a microscope, which can be
controlled robotically, to screen for genes that affect the worms’ ability to survive,
reproduce, develop, and behave. Because the investigator knows which interfering RNA
was added to each well, the gene responsible for any resulting defect can be readily
identified. Shown here are wild-type worms alongside a mutant that shows an impaired
ability to reproduce.
RNA interference provides a convenient method for conducting genome-
wide genetic screens.
A complementation test
can reveal that mutations in two
different genes are responsible
for the same abnormal phenotype.
When an albino (white) bird from
one strain is bred with an albino
from a different strain, the
resulting offspring have normal
coloration. This restoration of the
wild-type plumage implies that
the two white breeds lack color
because of recessive mutations
in
different genes.
EXPLORING HUMAN GENETICS
Genetic screens in model experimental organisms have been
spectacularly successful in identifying genes and relating them to various
phenotypes, including many that are conserved between these
organisms and humans. But the same approach cannot be used in
humans.

Unlike flies, worms, yeast, and bacteria, humans do not reproduce

rapidly. More importantly, intentional mutagenesis in humans is out of the
question for ethical reasons.
 Linked Blocks of Polymorphisms Have Been Passed
Down from Our Ancestors

When two sequence variants coexist at the same site and

are common in the population, the variants are called polymorphisms.

The majority of polymorphisms are due to the substitution of a single
nucleotide, called single-nucleotide polymorphisms or SNPs

These common variants can be found throughout the genome,

they are not scattered randomly—or even independently. Instead, they tend to travel in groups called
haplotype blocks—combinations of poly morphisms or other DNA markers that are inherited as a
unit.
• Polymorphisms Provide Clues to Our Evolutionary
History

• Genetic Studies Aid in the Search for the Causes of Human

Diseases
• Many Severe, Rare Human Diseases Are Caused by Mutations in
Single Genes

• Common Human Diseases Are Often Influenced by Multiple

Mutations and Environmental Factors
 Some of the common polymorphisms—including SNPs, indels, and CNVs—provide
useful markers for genetic mapping.

 The human genome consists of large haplotype blocks—segments of nucleotide

sequence that have been passed down intact from our distant ancestors and, in
most individuals, have not yet been broken up by crossovers. The relative sizes of
haplotype blocks can give us clues to our evolutionary history and help to identify
common disease-associated alleles.

 Many rare, inherited human diseases are due to mutations in a single gene.

 The most common human disorders are due to many genes acting together; DNA
sequencing studies are identifying mutations in these genes that increase the risk
of developing these diseases.
END