9/20/22

Lesson 13:NUCLEIC ACID

(Central Dogma)
ARGIE M. GELIDO,RMT,DTA,MLS (ASCPi)

2 Objectives

1. Describe central dogma;

2. Describe DNA replication, including the functions of DNA
gyrase, DNA ligase, and DNA polymerase; and,
3. Describe protein synthesis, including transcription and
translation.

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Is a series of theories of the transmission of hereditary information

and protein synthesis.
In Molecular Biology-this is the concept that regulate cellular
activities through REGULATION OF PROTEIN
SYNTHESIS
By Francis Crick in 1956, when he first proposed that the sequence of
nucleotides in DNA determines the sequence
of amino acids in a protein.
Gene Expression: the process by which the genetic code - the
nucleotide sequence - of a gene is used to direct
protein synthesis and produce the structures of the cell.

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5 Replication DNA to DNA

▹ Is a copying process by which DNA

is applied to the new cells formed
by cell division
▹ This genetic information is
transferred to mRNA through
Transcription

6 Transcription DNA to RNA

▹ This process involves the transfer

of genetic info from a DNA strand
thru base pairing to form
complementary ribonucleotides,
an RNA chain.

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7 Translation RNA to PROTEINS

▹ This information is translated from

nitrogenous base sequence to an
amino acid sequence by tRNA as
presented to it by the ribosomes
forming proteins RNA to PROTEIN

8 3 REACTIONS

Translation – mRNA
to CHON’s (reading
is from 5’ t0 3’)
Replication – ❖ SEME-
Transcription – DNA CONSERVATIVE
parent DNA to
to messenger RNA
daughter DNA REPLICATION –only
1 strand will
undergo
transcription

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9 DNA TRANSCRIPTION

▹ Transcription is the synthesis of a complementary strand of RNA from a

DNA template which takes place inside the nucleus.
▹ The process of transcription requires both an enzyme called RNA
polymerase and a supply of RNA nucleotides.
▹ Transcription begins when RNA polymerase binds to the DNA at a site called
the promoter.
▹ RNA synthesis continues until RNA polymerase reaches a site on the DNA
called the terminator.

10 INHIBITORS OF RNA SYNTHESIS

▹ 1. Actinomycin D and Mitomycin: intercalate with DNA strands, thus

blocking transcription. They are used as anticancer drugs.
▹ 2. Rifampicin is widely used in the treatment of tuberculosis and leprosy
▹ 3. Quinolones and Fluoroquinolones: inhibit DNA gyrase (prokaryotic
topoisomerase II), preventing DNA replication and transcription.

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11 3 STEPS OF TRANSCRIPTION

1. Initiation is the 2. Elongation is 3. Termination is

beginning of the addition of the ending of
transcription. It nucleotides to the transcription, and
occurs when the mRNA strand. occurs when RNA
enzyme RNA RNA polymerase polymerase
polymerase binds reads the crosses a stop
to a region of a unwound DNA (termination)
gene called the strand and builds sequence in the
promoter. the mRNA gene. The mRNA
molecule, using strand is
complementary complete, and it
base pairs. detaches from
DNA.
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12 DNA TRANSLATION

▹ During translation, codons of an mRNA are “read” sequentially; and, in

response to each codon, the appropriate amino acid is assembled into a
growing chain. The site of translation is the ribosome, and transfer RNA
(tRNA) molecules both recognize the specific codons and transport the
required amino acids.
▹ Each tRNA molecule has an anticodon, a sequence of three bases that is
complementary to a codon.
▹ Translation ends when one of the three nonsense codons in the mRNA is
reached.

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13 INHIBITORS OF PROTEIN SYNTHESIS

▹ 1. Reversible inhibitors in Bacteria (Bacteriostatic

Agents)
a. Tetracycline b. Chloramphenicol
c. Erythromycin. d. Clindamycin
▹ 2. Irreversible inhibitors in Bacteria (Bactericidal
Agents)
a. Streptomycin

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14 IMPORTANT ENZYMES IN CENTRAL DOGMA

DNA Gyrase Relaxes DNA Ligase Makes DNA Polymerases

supercoiling ahead of the covalent bonds to join ISynthesize DNA;
replication fork DNA strands; Okazaki proofread and facilitate
fragments, and new repair of DNA
segments in
excision repair
Helicase Unwinds Primase An RNA RNA Polymerase
double-stranded DNA polymerase that makes Copies RNA from a DNA
RNA primers from a DNA template
template

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MUTATION

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16 MUTATION

▹ any chemical or physical change that alters the

sequence of bases in the DNA molecule.
▹ Any alteration in the protein as a result of a change in all
cell structure, because when the genetic information in
the DNA is altered, the message transcribed into RNA will
also be altered
▹ *MUTAGENS – substance that causes mutation either
physical or chemical form

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TYPES OF
MUTATIONS

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18 SILENT MUTATION

▹ If abase substitution occurs in the third position of the

codon there is a good chance that a synonymous codon
will be generated. Thus the amino acid sequence encoded
by the gene is not changed and the mutation is said to be
silent.
▹ “new codon specifies same amino acid”

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19 MISSENSE MUTATION

▹ This type of mutation is a change in one DNA base pair

that results in the substitution of one

▹ amino acid for another in the protein made by a gene.

▹ “New codon specifies different amino acid”

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20 NONSENSE MUTATION
▹ A nonsense mutation is also a change in one DNA base pair.
Instead of substituting one amino acid for another,
however, the altered DNA sequence prematurely signals the
cell to stop building a protein. This type of mutation results
in a shortened protein that may function improperly or not
at all
▹ “new codon is stop codon”

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21 FRAMESHIFT MUTATION
▹ This type of mutation occurs when the addition or loss of DNA bases
changes a gene’s reading frame. A reading frame consists of groups of
3 bases that each code for one amino acid. A frameshift mutation shifts
the grouping of these bases and changes the code for amino acids. The
resulting protein is usually nonfunctional.
▹ “Insertions, deletions, and duplications can all be frameshift
mutations.”

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22 GENETIC CODE

▹ Set of rules which give a relationship between the nitrogenous bases and
the amino acids in a polypeptide chain.
4 FEATURES:
1. The genetic code is degenerate - most amino acids, assume > 1 codon;
however there is no one codon that specifies for > 1 amino acid
2. coding ratio – 3 bases (letters)coding for 1 amino acid
3. There are no punctuation marks to signify the start or the end of the chain
4. 3 codon will indicate the termination of the chain
Eg. UAG, UAA, UGA

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23 BASIC PRINCIPLES OF HEREDITY

▹ Terminologies
● Alleles: Genes that may replace one another at the same
locus. responsible for alternate or contrasting characters
● Homozygous: When both alleles carry the same defect
● Heterozygous: When one allele is normal, and the
counterpart is defective;
● Phenotype: The observed character expressed by the gene
● Genotype represents the set pattern of genes present in the
cell.
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24 AUTOSOMAL DOMINANT INHERITANCE

▹ only one copy of a disease allele is necessary for an

individual to be susceptible to expressing the phenotype.
▹ Affected men and women transmit the abnormality to their
children. When an affected heterozygote parent (Dd) has a
normal spouse (dd), half of the progeny will have the
disease.
▹ With each pregnancy, there is a one in two (50%) chance the
offspring will inherit the disease allele.
▹ Male-to-male transmission can be observed.
▹ -Examples of diseases with autosomal dominant inheritance
are chondrodystrophy (dwarfism) and Huntington
disease.

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25 AUTOSOMAL RECESSIVE INHERITANCE

▹ An autosomal recessive inheritance, two copies of a

disease allele are required for an individual to be
susceptible to expressing the phenotype.
▹ Typically, the parents of an affected individual are not
affected but are gene carriers.
▹ When both father and mother are carriers, one-quarter of
siblings express the disease (both alleles abnormal), another
one-quarter of siblings are normal, and half of the children
are carriers.
▹ As with autosomal dominant inheritance, the proportion of
affected males should be equal to the proportion of
affected females in a given population.
▹ Examples of diseases with autosomal recessive inheritance
include phenylketonuria, albinism, galactosemia, sickle
cell anemia and cystic fibrosis.

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SEX-LINKED (X-LINKED)
RECESSIVE INHERITANCE
26 ▹ In the autosomal conditions, the disease occurs in both
sexes with equal frequency. But in sex-linked conditions, X-
chromosome carries the abnormal gene.
▹ When a normal male carries a carrier female (unaffected
parent), the children can be affected male (25%), female
carrier (25%), normal male (25%) and normal female (25%).
▹ All male children of an affected male and normal female
will be normal; but all female children will be carriers since
they inherit the abnormal X from their father
▹ There is no male-to-male transmission, but male-to
female and female-to-male transmission of the affected X
can occur. X-linked traits are expressed in males who are
hemizygous (XY) for the condition, but not in-females who
may be heterozygous (XX)
▹ Hemophilia, glucose-6-phosphate dehydrogenase
deficiency, pseudohypertrophic muscular dystrophy
(Duchenne type), and red-green color blindness are
examples of sex-linked recessive inheritance.

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FOUR
CHROMOSOMAL
ABNORMALITIES

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28 1. Turner Syndrome

▹ Turner syndrome is a chromosomal condition that alters

development in females. Women with this condition tend to be
shorter than average and are usually unable to conceive a child
(infertile) because of an absence of ovarian function.
▹ Other features of this condition that can vary among women who have
Turner syndrome include: extra skin on the neck (webbed neck),
puffiness or swelling (lymphedema) of the hands and feet, skeletal
abnormalities, heart defects and kidney problems.

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30 2. Klinefelter Syndrome

▹ also known as the XXY condition, is a term used to

describe males who have an extra X chromosome in
most of their cells.
▹ Instead of having the usual XY chromosome pattern
that most males have, these men have an XXY pattern
▹ Even though all men with Klinefelter syndrome have
the extra X chromosome, not every XXY male has all of
those symptoms.

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32 3. Down Syndrome/ Trisomy 21

▹ A genetic disorder and the most common autosomal chromosome abnormality in

humans, where extra genetic material from chromosome 21 is transferred to a newly
formed embryo.
▹ These extra genes and DNA cause changes in development of the embryo and fetus
resulting in physical and mental abnormalities.
▹ Each patient is unique and there can be great variability in the severity of symptoms.
▹ In patients with Down syndrome, an error occurs in the coming together of chromosome
21.
▹ The extra genetic material is responsible for the developmental abnormalities that
occur.
▹ Instead of 46 chromosomes plus two sex chromosomes, there are 47.

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34 4. Cri du chat or Cry of the Cat syndrome

▹ Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in

which a variable portion of the short arm of chromosome 5 is missing
or deleted (monosomic).
▹ Symptoms vary greatly from case to case depending upon the exact
size and location of the deleted genetic material. Common symptoms
include a distinctive cry that resembles the mewing of a cat,
characteristic facial features, slow growth, and microcephaly, a
condition that indicates that head circumference is smaller than
would be expected for an infant's age and sex.

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THANK YOU !

Whatever you have learned or received or heard from me, or seen in me—
put it into practice. And the God of peace will be with you.
Philippians 4:9

A.GELIDO

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