BIOLOGY

16. CHROMOSOMES, GENES AND DNA

Chromosomes, Genes and DNA
 Chromosomes: are thread-like structure found in the nucleus of the cell,
which are made of DNA, protein.
- It contains genetic information (carries genetic information in a molecule
called DNA) They are subdivided into genes.
- Humans have 46 chromosomes arranged in 23 pairs.
*Gametes do not have pairs of chromosomes in their nuclei and bacterial
cells do not have a nucleus.
The entire genetic material of an organism is known as the genome.

 Genes
A gene is a short length of DNA found on a chromosome that codes for a particular
characteristic or protein.
- Alleles are variations of the same gene. For example, eye colour is the gene but blue, green,
brown etc. are alleles.

 Structure of DNA
DNA (deoxyribonucleic acid) is the molecule that carry genetic information
for growth and development in every living thing. Its structure is described as
a double-stranded helix held together by complementary base pairs.
- The basic units of DNA are nucleotides. These nucleotides consist of a deoxyribose
sugar, phosphate and base.

 Base pairing
The nucleotides are identical except for the base, which can be an adenine, thymine,
guanine or cytosine. There are chemical cross-links between the two strands in DNA,
formed by pairs of bases held together by hydrogen bonds. They always pair up in a
particular way, called complementary base pairing (complementary bases always link
with each other and never with any other base, known as base-pairing rule)

 thymine pairs with adenine (T-A)

 guanine pairs with cytosine (G-C)

These basic units are linked together to form strands by

strong bonds between the deoxyribose sugar of
one nucleotide and the phosphate of the next nucleotide.
These strong bonds form a sugar-phosphate backbone.
- The ends of the DNA strand are called the 5' prime
end at the phosphate end, and the 3' prime end at the deoxyribose end (OH group). The two
strands of DNA are antiparallel which means that
one strand runs in a 5’ to 3’ direction and the other runs in a 3’ to 5’ direction. This creates
the twisting double helix structure of DNA.
 BIOLOGY
16. CHROMOSOMES, GENES AND DNA
DNA is the only chemical that can replicate itself exactly. It is able to pass genetic
information from one generation from one generation to the next as a genetic code.
The genotype is determined by the sequence of bases.

 DNA Replication
DNA replication is the process by which a cell makes an identical copy of its DNA. This
process is performed at the beginning of every cell division so that when the cell divides,
each daughter cell will inherit an identical copy of the DNA.

Stage one
DNA replication starts with a single molecule of DNA. This molecule
is made of two complementary strands.
The DNA is unwound and unzipped. The helix structure is unwound.
Special molecules break the weak hydrogen bonds between bases, which are holding the two
strands together. This process occurs at several locations on a DNA molecule.

Stage two
DNA polymerase will add the free DNA nucleotides using complementary base pairing
(A-T and C-G) to the 3’ end of the primer this will allow the new DNA strand to form.
Adenine pairs with thymine, cytosine with guanine.A primer is needed to start
replication.
*Primers – A primer is a short strand of nucleotides that will bind to the 3’ end of the
template DNA strand allowing DNA polymerase to add free DNA nucleotides.

1. Leading strand is synthesized continuously. DNA polymerase adds nucleotides

to the deoxyribose (3’) ended strand in a 5’ to 3’ direction. A primer is needed to start
replication.

2. Lagging strand is synthesised in fragments. Nucleotides cannot be added to the

phosphate (5’) end because DNA polymerase can only add DNA nucleotides in a 5’ to
3’ direction. The lagging strand is therefore synthesised in fragments. The fragments
are then sealed together by an enzyme called ligase.

Stage three
The two new strands twist to form a double helix. Each is identical to the original strand.
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16. CHROMOSOMES, GENES AND DNA
 Genetic Code (DNA Code)
Only one of the strands of a DNA molecule actually codes for the
manufacture of proteins in a cell. The strand is called template strand, other
strand is called non-template strand.
- Many of the proteins manufactured are enzymes, which go on to control
processes within the cell.
- Some are structural proteins, e.g. keratin in the skin or myosin in muscles. Other proteins
have particular functions, such as haemoglobin and some hormones.
- Proteins are made of chains of amino acids. A sequence of three bases in the template
strand of DNA codes for one amino acid. For example, the base sequence TGT codes for the
amino acid cysteine.
- Because three bases needed to code for one amino acid, the DNA code is a triplet code.
The sequence of triplets that codes for all the amino acids in a protein is a gene.
* The sequence of bases in a DNA molecule can determine the order of amino acids in a
protein molecule. Groups of three bases called triplets represent different amino acids.
This is the basis of the genetic code. A sequence of bases (genetic information) on DNA that
codes for a protein is called a gene.

 Protein Synthesis
DNA stays in the nucleus, but protein synthesis takes place in the cytoplasm. This means
that for proteins to be made, the genetic code must be copied, and then transferred out of the
nucleus to the cytoplasm. This is carried out by a different kind of nucleic acid called
ribonucleic acid (RNA).
- There are three main differences between DNA and RNA:
 DNA is a double helix, RNA is a single strand.
 DNA contains the sugar deoxyribose, RNA contains ribose
 RNA contains the base uracil (U) instead of thymine (T).
*Ribose and deoxyribose are very similar in structure. Ribose contains an extra oxygen
atom. Similarly, the bases uracil and thymine are every similar in structure.

- Two types of RNA take part in protein synthesis:

Messenger RNA (MRNA), which forms a copy of the DNA code
Transfer RNA (TRNA), which carries amino acids to the ribosomes to make the protein.
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16. CHROMOSOMES, GENES AND DNA
Protein synthesis takes place in two stages, called transcription and translation.
 Transcription
When a gene is to be expressed, the base sequence of DNA is copied or
transcribed into mRNA (messenger RNA). This process takes place in the
nucleus and occurs in a series of stages.
1. The two strands of the DNA helix are unzipped by breaking of the weak
Hydrogen bonds between base pairs. This unwinding of the helix is
caused by an enzyme (helicase enzyme).
2. The enzyme RNA polymerase attaches to the DNA in a non-coding
region just before the gene.
3. RNA polymerase moves along the DNA strand. Free RNA nucleotides
form hydrogen bonds with the exposed DNA strand nucleotides by
complementary base pairing to form a strand of mRNA:
Note - RNA nucleotides contain the same bases as DNA, except that T is replaced by U. U
base pairs with A.
Because the opposite base bonds with the exposed DNA bases, the strand of mRNA is an
opposite copy of the DNA strand (except that U replaces T). We call this a complementary
copy.
4. The newly formed strand of mRNA is now ready to leave the nucleus and travel to the
ribosome.

 Translation
1. The mRNA strand travels through the cytoplasm and attaches to the ribosome. The strand
passes though the ribosome.
2. For every three mRNA bases the ribosome lines up one complementary molecule of tRNA.
We call every three bases a codon.
3. tRNA molecules transport specific amino acids to the ribosome which they leave behind
shortly after lining up opposite the DNA. Because there are three mRNA bases for each
tRNA molecule, we call this the triplet code.
4. Used tRNA molecules exit the ribosome and collect another specific amino acid.
5. A chain of several hundred amino acids in the correct order according to the original DNA is
then made. This is called a polypeptide.
After translation, the polypeptide is finally folded into the correct shape and becomes a
protein. Peptide bonds form between the adjacent amino acids to finalise the structure.
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16. CHROMOSOMES, GENES AND DNA
Structure of Chromosomes
Each chromosome contains one double-standard DNA molecule. The DNA is folded and
coiled so that it can be packed into a small piece. The DNA is coiled around proteins called
histones.

Each
human body cell contains 46 chromosomes. These can be arranged into 23 pairs.
Each chromosome in a pair carries the same types of genes. The 23rd pair are the sex
chromosomes:
 In females, the two chromosomes are identical in shape. There are
two X chromosomes. Females are referred to as XX.
 In males, one of the chromosomes is a different in shape. There is
an X and also a Y chromosome. Males are referred to as XY

Alleles
Alleles are different versions of the same gene. For example, eye colour is the gene but blue,
green, brown etc. are alleles.
The genotype is the collection of alleles that determine characteristics and can be expressed
as a phenotype.The phenotype is the visible characteristics of an organism which occur as a
result of its genes. For example, blue eyes or brown hair.

 A dominant allele is expressed in the heterozygote. Dominant

alleles are represented by a capital letter, for example A. The allele
for brown eyes is dominant. You only need one copy of this allele
to have brown eyes. Two copies will also give you brown eyes.
 A recessive allele is only expressed if the individual has two
copies and does not have the dominant allele of that gene.
Recessive alleles are represented by a lower-case letter, for
example a. The allele for blue eyes is recessive. You need two
copies of this allele to have blue eyes.
 Homozygous alleles are both identical for the same characteristic, for example AA or aa.
 Heterozygous alleles are both different for the same characteristic, for example Aa