Chrissa Mae T.

Catindoy
BS Medical Technology 3A
DNA Replication-maintaining genetic information
Watson and Crick
- Envisioned DNA as immense molecule unwinding and exposing unpaired bases that would
attract their complements, and from two double helices.
- This route to replication is called semiconservative, because each new DNA molecule
conserves half of the original double helix.

Gunther Stent, another Molecular Biologist

- Named three possible mechanisms of DNA replication:
 Semiconservative replication – the synthesis of new DNA in which half of each double helix
comes from a pre-existing double helix.
 Conservative replication – with one double helix specifying creation of a second double helix.
 Dispersive replication – with a double helix shattering into pieces that would then join with
newly synthesized DNA pieces to form two molecules.

Participants in DNA replication:

 Helicase – unwind and hold apart replicating DNA so that other enzymes can guide the
assembly of a new DNA strand
 Binding proteins – stabilize separate strands.
 Primase – attracts complementary RNA nucleotides to build a short piece of RNA, called –
RNA primer, at the start of each segment of DNA to be replicated.
o RNA primer is required because the major replication enzyme, DNA polymerase, can
only add bases to and existing strand
o DNA polymerase works directionally, adding new nucleotides to the exposed 3’ end of
the sugar in the growing strand. Replication proceeds in a 5’ to 3’ direction, because this
is the only chemical configuration in which DNAP can add bases.
 DNA polymerase – binds nucleotides to form new strands.
 Ligase – an enzyme that then seals the sugar phosphate backbones of the pieces, building the
new strand. These pieces, up to 150 nucleotides long are called, Okazaki fragments.

Transcription – the link between Gene and Protein

RNA
- Bridge between gene and protein.
- RNA and DNA share an intimate relationship.
- Synthesized against one side of the double helix, called the template strand, with the
assistance of an enzyme, RNA polymerase.
- The other side of the DNA double helix is the coding strand.
- As it synthesized along DNA, it folds into a three-dimensional shape, or conformation, that is
determined by complementary base pairing within the same RNA molecule.
- These shapes are very important for RNA’s functioning. The three major types of RNA are:
 Messenger RNA – (mRNA) a molecule of RNA complementary in sequence to the coding
strand of a gene. mRNA carries the information that specifies a particular protein product.
Transmits informationk to build proteins. Most such mRNA’s are 500-4,500 bases long.
 Ribosomal RNA – RNA that, with proteins, comprises ribosomes. rRNA molecules range
from 100-nearly 3,000 nucleotides long.
Chrissa Mae T. Catindoy
BS Medical Technology 3A
 Transfer RNA – a type of RNA that connects mRNA to amino acids during protein
synthesis. A tRNA molecule is only 75-80 nucleotides long.

Template strand
- The DNA strand carrying the information that is transcribed.
Coding strand
- The side of the double helix for a particular gene from which RNA is not transcribed.
DNA RNA
Store RNA- and protein- encoding Carries protein-encoding information,
information and transfer information to and helps us to make proteins; can
daughter cells; cannot function as an function as an enzyme
enzyme
Double stranded Single stranded
Deoxyribose as the sugar Ribose as the sugar
Base used: Base used:
A – adenine U – uracil
G – guanine C – cytosine
T – thymine A – adenine
C - cytosine G – guanine
Translation of a Protein
Transcription
- Copies the information encoded in a DNA base sequence into the complementary language of
RNA.
- The next step is translating mRNA into specified sequence of amino acids that forms a protein.
- Particular mRNA codons correspond to particular amino acids.
- This correspondence between the chemical languages of mRNA and protein is the Genetic
code.

The Genetic Code

Chrissa Mae T. Catindoy
BS Medical Technology 3A

Genome Imprinting
- In a poorly understood process called genomic imprinting, methyl groups cover a gene or
several linked genes and prevent them from being accessed to synthesize protein.
- For a particular imprinted gene, the copy from either the father or the mother is always
imprinted, even in different individuals.
- The result: a disease may be more severe, or different, depending upon which parent transmitted
the gene.
- Imprinting is an epigenetic alteration - in which a layer of meaning is stamped upon a gene
without changing its DNA sequence.
- The imprinting pattern is passed from cell to cell in mitosis, but not from individual to individual
through meiosis.
- When silenced DNA is replicated during mitosis, the pattern of blocked genes is exactly placed,
or imprinted, on the new DNA, covering the same genes as in the parental DNA.

Sexual Development
- In prenatal humans, the sexes look alike until the ninth week of prenatal development.
- During the fifth week, all embryos develop two unspecialized gonads, organs that will develop
as either testes or ovaries.
- Each such “indifferent” gonads forms near two sets of ducts that five two developmental
options.
- If one set of tubes, called the Mullerian ducts, continue to develop, they eventually form the
sexual structures characteristics of a female.
- If the other set, the Wolffian ducts, persists, male sexual structures form.
- The choice of one of these developmental pathways occur during the sixth week depending
upon the sex chromosome constitution.
- If a gene on the Y chromosome called SRY (sex-determining region of the Y) is activated,
hormones steer development along a male route.
- In the absence of SRY activation, a female develops.
- A human cell has 23 pairs of chromosomes.
- 22 pairs are autosomes, or chromosomes that do not differ between the sexes. The autosomes
are numbered 1-22, with 1 the largest.
- The other two chromosomes, the X and the Y, are sex chromosomes and a male has one X and
one Y.

Some Disease- related genes on the human X chromosome (*r-recessive. D-dominant)

CONDITION DESCRIPTION
Megalocornea (r) Enlarged cornea
Norrie dissease (r) Abnormal growth of retina, eye degeneration
Retinitis pimentosa (r) Constriction of visual field, night blindness,
clumps of pigment in eye
Agammaglobulinemia (r) Lack of certain antibodies
Chronic granulomatous disease (r) Skin and lung infections, enlarged liver and
spleen
Diabetes insipidus (r) Copious urination
Chrissa Mae T. Catindoy
BS Medical Technology 3A
Fabry disease (r) Abdominal pain, skin lesions, kidney failure
Hypophosphatemia (D and r) (r) Vitamin D-resistant Rickets
Ornithine transcarbamylase (r) Mental deterioration, ammonia accumulation
in blood
Severe combined immune deficiency (r) Lack of Immune system cells
Wiskott- Aldrich Syndrome (r) Bloody diarrhea, infections, rash, too few
platelets
Lesch-NYhan syndrome (r) Mental retardation, self-mutilation, urinary
stones, spastic cerebral palsy
Mekes disease (r) Kinky hair, abnormal copper transport, brain
atrophy
Muscular dystrophy, Becker and Duchenne Progressive muscle weakness
forms (r)
Amelogenesis imperfecta (D) Abnormal tooth enamel
Alport syndrome (r) Deafness, inflamed kidney tubules
Anhidrotic ectodermal dysplasia (r) Absence of teeth, hair and sweat glands
Rett syndrome (D) Mental retardation, neurodegeneration