Grade 10 Quarter 3 Week 4

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Grade 10

Quarter 3: Week 4
Protein Synthesis and Mutations
PROTEINS, GENES, DNA, AND CHROMOSOMES
Humans and most other organisms are made up of DNA, or deoxyribonucleic acid. It is a
molecule that contains the hereditary biological instructions to build and maintain an organism.
DNA belong to a type of molecules called nucleic acids, as seen in its name. Nucleic acids are
long chains of nucleotides.
Each nucleotide consists of:
a. a nitrogenous base – cytosine (C), guanine (G), adenine (A), and thymine (T)
b. a five-carbon sugar molecule – deoxyribose
c. a phosphate molecule
Nitrogenous bases are molecules that contain nitrogen and have the chemical properties of a
Base.
From the picture below, we can see the nitrogenous bases (C, G, A, and T); the sugar molecule
deoxyribose denoted as S; and the phosphate molecule denoted as P. The backbone of the
nucleotide chain (called a polynucleotide) are the sugar and phosphate molecules. Each sugar
group is then linked to one of the four nitrogenous bases.
Inside the cell is the nucleus, which is its control center. Inside the nucleus are chromosomes,
thread-like structures made up of DNA coiled around proteins called histones. Genes are
sequences of DNA that code for a molecule that has a function. Sometimes, gene code (act as
instructions) to make proteins.
Proteins are large, highly complex molecules made in the ribosome and contain carbon,
hydrogen, oxygen, nitrogen, and sometimes sulphur. Proteins are present in all living things.
Proteins are essential to the human body as it plays many important roles, determining the
structure and function of all cells.
Now as previously mentioned, DNA are inside chromosomes, which are located in the nucleus of
the cell. Proteins on the other hand, are made in the ribosomes in a process called protein
synthesis. Ribosomes are located outside of the nucleus. How can protein synthesis happen
when the instructions for it are found inside the nucleus?
PROTEIN SYNTHESIS
Protein synthesis has two steps: transcription and translation.
Transcription
Having two strands render DNA too large to fit through the pores of the nuclear membrane.
The nuclear membrane encloses the nucleus, protecting and separating chromosomes from the
rest of the cell. It is full of pores through which materials can pass through.
RNA or ribonucleic acid, another nucleic acid and also made up of nucleotides, can leave the
Nucleus as it is only a single strand and can squeeze through the nuclear membrane’s pores.
RNA is different from DNA in that its sugar molecule is ribose, and it contains the nitrogen base
uracil (U) instead of thymine.
Now earlier, we saw the structure of the NA-it is a double-stranded helix, meaning that it is
composed of two polynucleotides twisted around each other. DNA can store and transmit
information because of its double helix structure. The genetic information in DNA is transmitted
or copied into the RNA. This process is called transcription.
How does this happen?
There are two different types of proteins according to structure:
a. Fibrous – these have an elongated shape, and usually for structure and support. They
form muscles, bones, tendons, and connective tissue. Water insoluble, examples include
collagen and keratin.
b. Globular – these have a spherical shape, and have many functions like regulation,
transport, and serve as catalysts. Water-soluble, examples include enzymes, antibodies,
and hemoglobin.
Proteins are made up of organic compounds called amino acids, and different proteins are made
by forming combinations from any of the 20 amino acids. A chain of amino acids is linked
together by peptide bonds (chemical bonds formed between two molecules) and is called a
polypeptide. One or more of these polypeptides make up a protein. Amino acids and proteins are
the building blocks of life.

 A part of the DNA Is temporarily unzipped by an enzyme (proteins that speed up


chemical reactions in cells) called RNA polymerase. The RNA polymerase unzips the
DNA by breaking the hydrogen bonds that hold the two strands together.
 This exposes the nitrogenous bases on each DNA strand. Only one strand is copied, and
this serves as a template to assemble complementary nucleotides into messenger RNA or
mRNA. The DNA code determines the order the nitrogenous bases are copied to the
mRNA.
 Essentially, mRNA copies and carries the instructions from the DNA in the nucleus to the
ribosome.
 The mRNA goes to the ribosome, and the ribosome reads the code in the mRNA to
produce an amino acid chain.
 Remember, there are 20 amino acids. They are gathered and carried to the ribosome by
another type of RNA called transfer RNA or tRNA.
 The ribosome reads the mRNA three nucleotides at a time. This trio is called a codon.
Each codon is read by an anticodon, the complementary sequence to the codon trio. The
anticodon allows the tRNA to deliver the corresponding amino acid, adding onto the
chain. A third kind of RNA, called ribosomal RNA or rRNA ensures that the mRNA,
tRNA, and the ribosomes are properly aligned for protein synthesis. It helps translate the
information in the mRNA into protein. So three nucleotides (codon) one amino acid.
 Essentially, the ribosome translated the code in the mRNA in order to make an amino
 Acid chain. And like we learned earlier, proteins are anmino acid chains! Protein has now
 Been made.

CHROMOSOMES
Humans have 46 chromosomes, or 23 pairs. They are paired as one comes from the father
(through the sperm cell), and the other comes from the mother (through the egg cell).
The first 22 pairs are called autosomes, and the 23rd pair are the sex chromosomes.
Two XX chromosomes represent females, while the XY chromosomes represent males.
MUTATIONS
Did you notice anything different from the second karyotype in the previous activity?
Mutations are changes or alterations in DNA sequences. They usually manifest on our physical
characteristics.
We all have or experience mutations. There are two types of mutations based on causes:
a. Hereditary/Germline mutations - these are inherited from parents, like color blindness.
They are present in almost all the cells (including the germ cells or the reproductive cells) in
bodies because they are inherited.
Point Mutations
These mutations occur in a change in a single nucleotide. These can include deletions, insertions,
or substitutions of one nucleotide in a gene. A codon change is an example, like UCU changing
to UAU. Another example is sickle cell disease, which is the result of one nucleotide
substitution.
Frameshift Mutations
DNA is divided into codons (or a trio of nucleotides). A deletion or insertion of one or more
nucleotides will change the reading frame of the coding strand or how the codons are read. For
example, a U nucleotide was added after the first codon, throwing off a codon sequence: ACG-
UAC-CCA-CAG-U.
EFFECTS OF MUTATION
Most mutations are neutral or silent, having neither positive nor negative effects on organisms.
But some mutations can be beneficial – new proteins can be made, new adaptations to an
environment can develop. These are a plus for survival, reproduction, and evolution. They can
increase genetic variation.

Some examples of beneficial mutations include:


1. Mutations in human physiology like trichromatic vision, which causes us to discriminate
among the three colors red, blue, and green: and increased bone density, with research on
this being used as basis for skeletal disease therapy. B. Mutations in proteins that led to
resistance to some diseases, like malaria, HIV, and heart disease. Research on these
proteins are used to help treat or cure diseases.
But mutation can also have adverse effects, causing genetic disorders and other diseases.
a. Genetic disorders – caused by mutations in one or more genes. An example is cystic
fibrosis, a disease caused by mutation in a single gene that causes the body to produce
thick mucus that affects the lungs and digestive system.
b. Diseases like cancer – cancer cells are cells that grew out of control, forming tumors that
destroy healthy cells around the tumor. Cancer cells can also cause an excess of abnormal
cells in the blood, like in leukemia, where there are high numbers of abnormal white
blood cells that are not able to fight infection, also weakening the bone marrow’s ability
to produce red blood cells and platelets. These are usually caused by mutations in the
genes that control the cell cycle.
c. Acquired/Somatic mutations – these occur usually because of lifestyle or environmental
factors like exposure to chemicals or diseases. These can also occur due to errors during
cell division. Acquired mutations in somatic cells are inherited.
CHROMOSOMAL MUTATIONS
The second karyotype from the previous activity features a chromosomal mutation, or changes in
the chromosome structure.
Chromosomal mutations occur due to errors in cell division, specifically in the crossing over part
during meiosis 1. Chromosomal mutations affect large portions of the DNA strand, and can
happen in both the autosomal and sex chromosomes. The mutations can manifest in a range of
physical and developmental problems.
1. Duplication – an extra copy or a gene is repeated. An example is the Pallister Killian
syndrome, where there is an extra chromosome 12.
2. Inversion – a segment is broken off and inverted. An example is Hemophilia A, a genetic
disorder in which the blood does not clot properly, is caused by an inversion in the X
chromosome.
3. Deletion – a segment is lost. An example is Cri-du-chat syndrome, where a part of
chromosome 5p is deleted. Cri-du-chat syndrome is a rare genetic disorder. Symptoms vary
greatly, but common characteristics include a high-pitched cat-like cry, slow growth, and
microcephaly, or small head size.
4. Insertion – extra pairs are inserted into a new place. An example is when extra nucleotides
are inserted into a DNA sequence, causing spontaneous mutations or mutations that result
from natural changes in the DNA structure.
5. Translocation – part of one chromosome attaches to another chromosome. An example is
chronic myeloid leukemia or CML, a result of translocation between chromosomes 9 and 22.
CML is an uncommon type of cancer of the bone marrow.
SUMMARY

 Protein synthesis is how cells make proteins. It occurs in two stages: transcription and
translation.
 Transcription involves using DNA as a template to make messenger RNA or mRNA. The
mRNA then leaves the nucleus to attach to a ribosome, where the next step called
translation occur.
 Translation involves decoding the genetic code in mRNA in order to make a protein.
 Changes in a gene’s instructions for making a protein trigger mutations. These mutations
can cause the protein to be either missing or malfunctioning. Proteins play many critical
roles in the body, so any mutations may disrupt the body’s functions. Mutations can either
be neutral, beneficial, or harmful.

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