General Biology

Bio 110

Chapter 10
Contents

PART V Microbiology Chapter 6

PART VI Plant Chapter 7

PART VII Animal Chapter 8
PART IX Genetic Basis of Life
a. Cell Cycle and Genetic Disorders Chapter 9
b. Classical Genetics and Modern Chapter 10
Biotechnology
 Part IX b

GENETIC BASIS OF LIFE

b. Classical Genetics and Modern Biotechnology
 10.1 Principles of Inheritance

◼ Human characters such as eye color and hair color, along with a multitude
of other characteristics, are passed on from one generation to another.
◼ Heredity is the transmission of genetic information from parent to
offspring.
◼ Genetics is the science of heredity, studying genetic similarities and
variation between parents and offspring.
◼ The study of inheritance began in the mid-19th century with the work of
Gregor Mendel on garden pea plants.
◼ When Mendel began his breeding experiments in 1865, two main
concepts about inheritance were widely accepted.
◼ Mendel has chosen the organism for his experiments very carefully, the
garden pea with several advantages:
1. easy to grow.
2. many varieties were commercially available.
3. controlled pollinations are easy to conduct.
 10.1 Principles of Inheritance

◼ Mendel chose pea strains representing seven characters or traits

with contrasting easily-distinguishable phenotypes (Figure 10.1).
◼ A trait is a specific characteristic , such as seed color or plant height.

Figure 10.1 Seven characters in Mendel’s study of pea plants.

 10.1 Principles of Inheritance

Genetic terminology:
◼ True breeding means that they were self- pollinating and would produce
offspring identical to themself.
◼ Phenotype refers to the physical appearance of an organism.
◼ Genotype refers to genetic makeup for that organism.
◼ Cross-pollination is when the anthers (the male parts of the flower that
produce pollen) removed and pollen from a different source can be
applied to the stigma (the receptive surface of the female part).
◼ Self-Pollination: a flower will pollinate itself or another flower on the same
plant.

That flower parts

Cross-pollination. Self-pollination.
 10.1 Principles of Inheritance:

◼ Mendel Experiments:
◼ Mendel began his experiments by crossing plants from two different true-
breeding lines with contrasting phenotypes
◼ Members of the first (F1) generation looked alike( Hybrid plants) and
resembled only one of the two parents.
◼ Hybrid plants: are plants produced by the cross-breeding of two
genetically different varieties or species
◼ when these hybrids (F1) mate with
each other by self-pollination, their
offspring produce (F2 )generation
and show a mixture of traits.
◼ Some look like their parents and
some have features like those of
their grandparents.

Mendel experiment
 10.1 Principles of Inheritance:
◼ When crossing tall plants (T) with short
plants (t), all the offspring in the F1
generation were tall (Figure 12.2) or F1
hybrids from the tall parents apparently
masked the expression of factors from the
short parent.
◼ Using modern terms, we say that the factor
expressed in the F1 generation (tallness, in
our example) is dominant; the one hidden
in the F1 (shortness) is recessive.
◼ Dominant traits mask recessive ones when
both are present in the same individual.
◼ When crossing F1 individuals or by self-
pollination of F1 individuals to produce the
second generation (or F2), a number of
787 tall and 277 short plants were
produced
 10.1 Principles of Inheritance:
◼ Table 10.1 shows experimental results for all seven pea characters that
represent the First Mendel’s Law; the Principle of Segregation.
◼ However, the hereditary factor controlling shortness in the F1 generation
was not lost because shortness reappeared in the F2 generation.
◼ These factors are essentially what scientists today call genes—units of
heredity that affect an organism’s traits.
◼ Alternative forms of a gene are called alleles.
◼ Recall that during meiosis, homologous chromosomes and therefore, the
alleles separate. TABLE 10.1
◼ As a result, each formed cell (egg or Mendel’s Experimental Results for Seven Characters.
sperm) contains only one allele of
each pair (T or t), a monohybrid
cross.
◼ When F1 plants form gametes,
◼ one half will contain a T allele.
◼ the other half, a t allele (a ratio of
1:1).
.
 10.1 Principle of Inheritance:
◼ In the F2 offspring, the random process of fertilization led to three
possible combinations of alleles:
◼ one-fourth (¼) with two tallness alleles (TT) or homozygous for
dominant allele.
◼ (¼) one-fourth with two shortness alleles (tt) or homozygous for
recessive allele.
◼ one-half (½) with one allele for tallness and one for shortness (Tt) or
heterozygous.
◼ Mendel also analyzed crosses involving alleles of two loci; dihybrid cross,
where two pairs of alleles are carried on non-homologous
chromosomes
(one pair of alleles in one pair of homologous chromosomes and the
other pair of alleles is in a different pair of homologous chromosomes).
◼ Each pair of alleles is inherited independently; that is, each pair
segregates during meiosis independently of the other.
◼ This is the Second Mendel's Law; the Principle of Independent
Assortment.
 Part IXb

10.2 Sex Determination

 10.2 Sex Determination
a. Sex Chromosomes
◼ Genes are the most important sex determinants in eukaryotic
organisms.
◼ The major sex-determining genes of mammals, birds and many insects
are carried by sex chromosomes.
◼ Members with a pair of similar sex chromosomes (XX) produce
gametes that are identical in sex chromosome constitution (X
chromosome).
◼ The members of the other sex have two different sex chromosomes
(XY) and produce two kinds of gametes, each bearing
a single kind of sex chromosome (X & Y).
◼ The cells of female mammals, including human, contain two X
chromosomes.
◼ In contrast, the males have a single X chromosome and a smaller Y
chromosome that bears only a few active genes (Figure 12.3).
◼ Ex., human females have 22 pairs of autosomes, e.g.,
chromosomes other than sex chromosomes, plus a pair of X
chromosomes, while males have one X and one Y chromosomes
10.2 Sex Determination

Sex Determination in human

Figure 10.3 Human X (left) and Y
(right) chromosomes.
 10.2 Sex Determination
b. Dosage compensation of X-linked genes
◼ The X chromosome contains numerous genes required by both sexes,
yet a normal female has two copies (“doses”) for each locus, whereas a
normal male has only one.
◼ Dosage compensation is a mechanism that makes equivalent the two
doses in the female and the single dose in the male.
◼ Because of dosage compensation, males and females produce the
same amounts of proteins coded by X-linked genes.
◼ Random inactivation of one of the two X
chromosomes in the female is called X
chromosome inactivation.
◼ During interphase, a dark spot of chromatin is
visible at nucleus’s edge of each female
mammalian cell when stained and observed with a
microscope.
◼ This dark spot, a Barr body, is a dense,
metabolically inactive X chromosome.
 10.2 Sex Determination
b. Dosage compensation of X-linked genes (Cont’d)
◼ Cats have several X-linked genes for certain coat colors.
◼ Females that are heterozygous for such genes may show patches of
one coat color in the middle of areas of the other coat color termed
variegation (Figure 12.4).

(Barr bodies)

Figure 10.4 Dosage compensation in female

cats (variegation).
 Part IXb

10.3 genes and environment

 10.3 Genes and Environment
◼ Himalayan rabbits represent an example of the effect of environment
on gene expression.
◼ The phenotype of these rabbits is white fur except for dark patches on
the ears, nose and paws.
◼ The local surface temperature of a rabbit’s ears, nose and paws is
colder in the rabbit’s natural environment and this temperature
difference causes the production of dark fur.
◼ If you raise rabbits with the Himalayan genotype at a warm
temperature (30°C), the rabbits are completely white, with no dark
patches on the ears, nose or paws (Figure 12.5a).
◼ If you raise Himalayan rabbits at a
cooler temperature (25°C), however,
they develop characteristic dark
patches of fur (Figure 12.5b).
◼ Thus, genes can function differently in
different environments.
Figure 10.5 Influence of the environment
on rabbit coat color.
 Part IX b

10.4 GENE CLONING

 10.4 Gene Cloning

◼ In biology, cloning is the production of genetically identical copies of

DNA, cells, or organisms through some asexual means.
◼ When a stem sends up new shoots, the resulting plants are clones of
one another.
◼ The members of a bacterial colony on a petri dish are clones because
they all came from the division of the same original cell.
◼ DNA cloning or gene cloning can be done to produce many identical
copies of the same gene.
◼ Scientists clone genes for a number of reasons:
◼ to determine difference in base sequence between a normal and a
mutated gene.
◼ to use the genes to genetically modify organisms in a beneficial way.
◼ When cloned genes are used to modify a human, the process is
called gene therapy.
◼ Recombinant DNA (r DNA) technology and the polymerase chain
reaction (PCR) are two procedures that scientists can use to clone
DNA.
 10.4 Gene Cloning
a. Recombinant DNA Technology:
◼ Recombinant DNA (rDNA) contains DNA
from two different sources; e.g., a human
cell and a bacterial cell (Figure 10.6).
◼ A vector is needed by which rDNA is
introduced into a host cell. One common
vector is a plasmid; a small supercoiled
ring DNA found in bacteria.
◼ all accessory ring of DNA found in
bacteria, not part of the bacterial
chromosome and replicates on its own.
◼ Two enzymes are needed to introduce
foreign DNA into vector DNA:
1. Restriction enzyme
◼ Restriction enzymes occur naturally in
bacteria in order to cleave DNA.
◼ Ex., they cut up any viral DNA Figure 10.6 Cloning a human gene.
(phage DNA) that enters the cell.
 10.4 Gene Cloning

a. Recombinant DNA Technology (Cont’d)

◼ Restriction enzymes also act as
molecular scissors to cleave any piece
of DNA at a specific site.
◼ Ex., restriction enzyme EcoRI cuts
double-stranded DNA at a target
sequence of bases (GAATTC).

Figure 10.7 An EcoRI restriction enzyme cuts.

Figure 10.6 Cloning a human gene.
 10.4 Gene Cloning

a. Recombinant DNA Technology (Cont’d)

◼ The single-stranded, but
complementary, ends of the two DNA
molecules are called “sticky ends”.
◼ This is because these sticky ends can
bind a piece of foreign DNA by what is
called complementary base-pairing.
2. DNA ligase
◼ DNA ligase to seal DNA into opening
created by the restriction enzyme.
◼ Then, bacterial cells take up recombinant
plasmids, thereafter, the plasmid
replicates inside the cells.

Figure 10.6 Cloning a human gene.

 10.4 Gene Cloning
b. The Polymerase Chain Reaction (PCR):
◼ PCR can create copies of a segment of DNA in a test tube.
◼ It is very specific as it makes copies of (amplifies) a target DNA
sequence.
◼ It requires the use of DNA polymerase; the enzyme that carries out
DNA replication and a supply of nucleotides for the new DNA strands.
◼ PCR is a chain reaction because the targeted DNA is repeatedly
replicated.
◼ Colors in Figure 10.8 distinguish the old DNA strand from the new one.

Polymerase chain reaction

(PCR) machine
Figure 10.8 Polymerase chain reaction (PCR).
 Part Ixb

10.5 Biotechnology Products

 10.5 Biotechnology Products
◼ Transgenic bacteria, plants and animals are often called genetically
modified organisms (GMOs) and the products they produce are called
biotechnology products.
a. Genetically Modified Bacteria:
◼ Biotechnology products produced by bacteria include insulin,
human growth hormone and hepatitis B vaccine.
◼ Also, a bacterium that normally colonizes the roots of corn plants
has now been transformed with genes (from another bacterium)
that code for an insect toxin (Bt), namely cry genes.
◼ The toxin protects the roots and stems from insects.
◼ Bacteria can be selected for their ability to degrade a particular
substance; i.e., bioengineering such as cleaning up beaches after
oil spills.
◼ In addition, there is a transformed bacteria that can produce
phenylalanine, an organic chemical needed to make aspartame,
the dipeptide sweetener better known as NutraSweet.
 10.5 Biotechnology Products
b. Genetically Modified Plants:
◼ Techniques have been developed to introduce foreign genes into
immature plant embryos or into plant cells (protoplasts) that have cell wall
removed.
◼ It is possible to treat target cells with an electric current, while they are
suspended in a liquid containing foreign DNA, to make tiny, self-sealing
holes in plasma membrane through which genetic material can enter and
causes genetic transformation.
◼ Protoplasts go on to develop into mature plants.
◼ One altered plant known as the pomato is the result of this and other
technologies namely cell fusion.
◼ This plant produces potatoes belowground and tomatoes aboveground.
◼ Foreign genes transferred to cotton, corn and potato strains have made
these plants resistant to pests because their cells now produce an insect
toxin (Bt).
◼ Soybeans have also been made resistant to a common herbicide namely
basta.
 10.5 Biotechnology Products
b. Genetically Modified Plants (Cont’d)
◼ Other genetically modified crops with
increased yield were produced.
◼ Ex., Flavr Savr in tomato

◼ Like bacteria, plants were also engineered

to produce human proteins, such as
hormones and antibodies, in their seeds.
c. Genetically Modified Animals:
◼ Techniques were developed to insert foreign
genes in animal eggs by microinjection
using silicon-carbide needles.
◼ When these eggs are fertilized, resulting
offspring are transgenic animals. Figure 10.9 Transgenic mammals
produce a product.
 10.5 Biotechnology Products
c. Genetically Modified Animals (Cont’d):
1. Gene Pharming:
◼ It is the use of transgenic farm animals
to produce pharmaceuticals in which
genes are incorporated into an
animal’s DNA and the proteins appear
in the animal’s milk (Figure 12.9a).
◼ Plans are under way to produce drugs
for the treatment of cystic fibrosis,
cancer and other disorders.
◼ DNA containing the gene of interest is
injected into donor eggs.
◼ Following in vitro fertilization, the
zygotes are placed in host females,
where they develop.
◼ After female offspring mature, the
product is secreted in their milk.
Figure 10.9 Transgenic mammals
produce a product.
 10.5 Biotechnology Products:
c. Genetically Modified Animals (Cont’d):
2. Cloning Transgenic Animals
◼ In 1997, Scottish scientists announced
the production of a cloned sheep
called Dolly.
◼ Since then, calves and goats were
also cloned (Figure 12.9b).
◼ After enucleated eggs from donor are
microinjected with 2n nuclei of the
same animal, they begin development
until clones are born.

Figure 10.9 Transgenic mammals

produce a product.
 Part IX b

10.7 Genomics
 10.7 Genomics
◼ Genetics in the 21st century concerns genomics, the study of genomes—
complete genetic makeup.
◼ Knowing the sequence of bases in genomes (structural genomics) is the
first step and thereafter the function of genes (functional genomics).
a. Structural Genomics:
◼ Structural genomics refer to detection of the sequence of DNA bases
and the number of genes in an organism.
◼ Modern DNA sequencers can automatically analyze up to 2 million
base pairs of DNA in a 24-hour period.
◼ In human, sperm DNA was the material of choice because it has a
higher ratio of DNA to protein than other types of cells.
◼ Many small regions of DNA that vary among individuals (polymorphic
DNA) were identified during the Human Genome Project (HGP).
◼ Most of these are single nucleotide polymorphisms (SNPs) (difference
of only one nucleotide).
◼ Many SNPs have no effect; others contribute to enzymatic differences
affecting phenotype, i.e., change an individual’s susceptibility to
disease.
 10.7 Genomics

a. Structural Genomics:
◼ Determining that human have 20,500 genes required a number of
techniques, many of which relied on identifying RNAs in cells and then
working backward to find DNA.
◼ Most of the known genes in human genome (3 billion bases) are
expected to code for proteins.
◼ However, the rest of the human genome (98%) was formerly described
as “junk” because it does not code for a certain protein.
b. Functional and Comparative Genomics:
◼ As soon as we know the structure of a given genome, the emphasis will
be on both functional genomics and comparative genomics.
◼ Through functional genomics, we can understand the exact role of the
genome.
◼ To that end, a new technology called DNA microarrays can be used to
monitor the expression of thousands of genes simultaneously.
◼ More recently, the applications of RNA-seq can satisfy the expression of
all genes in a particular physiological or environmental condition.
 10.7 Genomics
b. Functional and Comparative Genomics (Cont’d):
◼ The latter technology relies on the use of the Next Generation
Sequencing facility.
◼ The use of a microarray or RNA-seq can tell what genes are turned-
on or turned-off in a specific cell or organism at a particular time and
under particular environmental circumstances.
◼ Through comparative genomics, it is possible to:
◼ compare the human genome, for example, to the genome of other
smaller (model) organisms, such as those listed in Table 10.1.
TABLE 10.1
 10.7 Genomics

b. Functional and Comparative Genomics (Cont’d):

◼ Model organisms are used in genetic analysis of more
complicated organisms because they have many cellular
pathways in common.
◼ Scientists inserted a human gene associated with early-onset
Parkinson’s disease into the fruit fly and the flies showed
symptoms similar to those seen in human.
◼ This suggests that we can use organisms like Drosophila and
mice to test therapies for human diseases.
◼ offer a way to study changes in a genome over time because the
model organisms have a shorter generation time than human.
◼ help us understand the relatedness between organisms.
◼ Researchers were not surprised to find that the genes of
chimpanzees and human are 98% alike.
 10.7 Genomics
c. Proteomics:
◼ Proteomics is the study of the structure, function and interaction of
cellular proteins.
◼ Proteome is the entire collection of a species’ proteins.
◼ At first, it may be surprising to learn that the human proteome
(1,000,000 proteins) is larger than the genome (20,500 genes) until we
consider all the many regulatory mechanisms,
◼ Ex., alternative pre-mRNA splicing and post-translational
modifications, that increase number of possible proteins in an
organism.
◼ One goal of proteomics is to identify the type and function of proteins
within a particular cell type.
◼ Each cell produces thousands of different proteins that can vary
between cells.
◼ It may be possible to correlate drug treatment to particular proteome of
an individual to increase efficiency and decrease side effects.
10.7 Genomics
d. Bioinformatics:
◼ Bioinformatics is the application of computer technologies, specially
developed software and statistical techniques to the study of biological
information, i.e., genomic and proteomic information.
◼ Ex., BLAST, which stands for "basic local alignment search tool", is
a computer program that can identify homologous genes among
the genomic sequences of model organisms.
◼ Homologous genes are genes that code for the same proteins,
although the base sequence may be slightly different.
◼ Finding these differences can help trace the history of evolution
among a group of organisms.

Bioinformatics
Thank you