How Genes Work

GENE biological unit of heredity

Genes hold the information to build and maintain their cells and pass genetic traits to offsprings.
A gene is a portion/segment of DNA that encodes a unique protein that preforms a specialized function in the
cell.
Genes act as instructions to make molecules called proteins.
In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases.
20, 000 to 25, 000 estimated genes of humans

Nucleic Acid
Nucleic acids made up of chains of nucleotides
Nucleotides consist of:
o A base
o A sugar (ribose)
o A phosphate
The nitrogenous bases of each nucleotide are classified as a purine or pyrimidine based on their chemical
structure. A purine is a double-ringed structure, whereas a pyrimidine is a single-ringed structure. The
nitrogenous bases adenine and guanine are purines; cytosine and thymine (DNA) or uracil (RNA) are pyrimidines.
Two types of nucleic acids in cells:
o Deoxyribonucleic acid (DNA)
o Ribonucleic acid (RNA)
Features of DNA and RNA
DNA RNA
Mainly concentrated in the nucleus Mainly concentrated in the cytoplasm although
Location
it is also occurs in the nucleus
Replication of pre-existing DNA Usually synthesized on a DNA template; only
Origin genetic RNA may replicate to yield RNA

Structure Double-helix Usually single stranded

Sugar Deoxyribose Ribose
Adenine (A), Guanine (G), Thymine (T), and Adenine (A), Guanine (G), Uracil (U), and
Bases
Cytosine (C) Cytosine (C)
Base pairing AT and GC AU and GC
As genetic material Protein synthesis; genetic in some viruses
Function
The Double Helix
James Watson and Francis Crick proposed a double-helix
structure model of DNA in 1953.
The DNA is double helix because of the two strands which
wind around each other.
The double helix DNA is like a winding staircase. The two
sugar-phosphate backbones make up the sides and the base
pairs make up the rungs or steps of the winding staircase.
Two strands of DNA are hydrogen bonded together via their
nitrogenous bases, and this process is called hybridization.
The idea of complementary base pairing is essential to this
model. Complementary base pairing means that a purine
must pair with a pyrimidine. An A on one strand of DNA always
bonds to a T on another strand of DNA using 2 hydrogen
bonds. A C on one strand always bonds to a G on another
strand using 3 hydrogen bonds.
Each strand of DNA has a specific polarity or direction in which
is runs. This polarity is referred to as 5 and 3. The
complementary strand of DNA always runs antiparallel, in the
opposite direction of the original strand. So if one DNA strand
runs 5 to 3 the other strand of the double helix runs 3 to 5.

DNA REPLICATION
During normal cell division, it is essential that all components of the cell,
including the chromosomes, replicate so that each progeny cell receives a
copy of the chromosomes from the parent cell. The process of replicating
DNA must happen accurately to ensure that no changes to the DNA are
passed on to the progeny cells.
The process of DNA replication is termed semiconservative replication.
One double helix must be replicated so that two double helices resultone
for each progeny cell. Because the DNA double helix has two strands, each
strand can serve as a template to produce a new strand.

The process of semiconservative replication has three basic steps:

1. The original DNA double helix must unwind. This process is achieved using
the enzymes topoisomerase (gyrase) to relax supercoiling ahead of the
replication fork and helicase at the replication fork. Single-strand binding
proteins follow helicase, binding to the DNA and keeping the strands
separated at the replication fork.
2. The hydrogen bonds that hold the nitrogenous bases together must be
broken. This unzips the double helix in a localized area of the
chromosomes called the origin of replication.
3. Each template strand produces a complementary strand of DNA using the typical rules of complementary base
pairing. The primase enzyme initiates the process; however, DNA polymerase is the key enzyme in this process.
This enzyme bonds to the DNA template and chemically reads the nucleotide sequence while assembling the
complementary free nucleotides to produce the new strand.

THE CENTRAL DOGMA

DNA is the hereditary information of the cell, which is located within chromosomes in the nucleus of eukaryotic
cells. A gene is a segment of DNA located on a chromosome that has information to encode for a single protein. Proteins
are made in the cytoplasm of the cell with assistance from ribosomes, but unfortunately the genes carrying the
instructions cannot leave the nucleus, nor can the ribosomes, which assist in protein synthesis, enter the nucleus.
To get around this problem, the DNA message in the nucleus is converted to an intermediate ribonucleic acid
(RNA) message that can travel out of the nucleus to the cytoplasm and be read by the ribosomes to produce a protein.
Protein synthesis is a two-step process: the conversion of DNA to RNA is transcription, and the conversion of RNA to a
protein is translation. The process describes the flow of genetic information in the cell and is the central dogma of
molecular biology.
RIBONUCLEIC ACID
RNA is another form of nucleic acid and is a critical player in the process of protein synthesis. RNA molecules are
very similar to DNA with a few exceptions.
3 types of RNA: ribosomal RNA (rRNA), transfer RNA (tRNA), and messenger RNA (mRNA). Each type has a
specific role in the process of protein synthesis. Both rRNA and tRNA are considered noncoding.
o Ribosomal RNA (rRNA) - is made in the nucleolus of the nucleus. It is a structural component of
ribosomes.
o Transfer RNA (tRNA) - is located in the cytoplasm of the cells. It is used to shuttle amino acids to the
ribosome during the process of translation.
o Messenger RNA (mRNA) - is copied from DNA and serves as the messenger molecule to carry the DNA
message to the ribosomes in the cytoplasm.

1. Transcription RNA Synthesis

The first step of protein synthesis that involves the copying of a part of a DNA molecule to make an mRNA
(messenger RNA) molecule.
Transcription has three phases:
o Initiation
o Elongation
o Termination
RNA is transcribed from a DNA template after the bases of DNA are exposed by unwinding of the double helix.
In a given region of DNA, only one of the two strands can act as a template for transcription.
Initiation: RNA polymerase recognizes and binds to a promoter region which is a sequence of DNA rich in A and
T bases (TATA box) found only on one strand of the DNA.

Elongation: RNA polymerase elongates the nascent RNA molecule in a 5-to-3 direction, antiparallel to the
template DNA
o Nucleotides are added by complementary base pairing with the template strand
o The substrates, ribonucleoside triphosphates, are hydrolyzed as added, releasing energy for RNA
synthesis.
Termination: Special DNA sequences and protein helpers terminate transcription.
o The transcript is released from the DNA.
o This Primary Transcript is called the pre-mRNA
o The pre-mRNA is processed to generate the mature mRNA
The Genetic Code
Describes how nucleotide sequence is converted to protein sequence
Unit of three nucleotides = a codon
A codon codes for a specific amino acid (structural component of protein)
There are 64 variations of codons
The start codon, AUG, codes for methionine- starts translation
The stop codons UAA, UGA, UAG stop translation
Four RNA nucleotides are arranged 20 different ways to make 20 different amino acids building blocks of
proteins

Characteristics of Code
o Continuity - The genetic code reads as a long series of three-letter codons that have no spaces or
punctuation and never overlap.
o Redundancy Several different codons can code for the same amino acid, but no codon ever has more
than one amino acid counterpart.
o Universality the genetic code is the same in almost all living organisms, from bacteria to mamma

Transfer RNA (tRNA)

a small RNA, each containing about 80 nucleotides.
A tRNA molecules has two functional sites:
o Recognize a specific codon (anticodon sequence). For each codon
there is a tRNA with complementary anticodon
o Binds to a specific amino acid (at 3 end)
Transport the required amino acid to the ribosomes

Ribosomes
Small organelles that are made up of rRNA and proteins.
Composed of two subunits (small and large)
Located on the rough ER or in the cytoplasm. There are also a few
ribosomes in mitochondria and chloroplast
Function: makes proteins by reading the code on the mRNA molecule
Binding sites:
o A-site binds to the tRNA anticodon that carries the proper amino acid
o P-site binds to the last entering tRNA that holds the growing polypeptide chain
o E-site allows the exit of the empty tRNA
2. Translation Protein Synthesis
the synthesis of protein from an RNA template
It takes place in ribosomes in the cytoplasm or on the surface of the endoplasmic reticulum
The product of this process is a polypeptide chain (primary protein structure)
The actual process is composed of an initiation, elongation, and termination stage.
During initiation all participants of translation come together: mRNA (for genetic information) bind to the small
subunit of the ribosome. The tRNA molecule that carries Met (start codon) also attaches to the small subunit
(on the A-site). Finally, the large subunit binds to the small subunit. The copying starts at the 5 end of the
mRNA. This process requires energy (GTP or Guanosine triphosphate provides it)

During elongation: The ribosome moves over and reads the next codon on the mRNA. The matching tRNA
enters to the A-site, the previous tRNA moves over to the P-site. The amino acids on the two tRNA molecules
bind by peptide bond. This process keeps repeating until a stop signal on the mRNA is reached.

Termination starts when the stop codon on the mRNA is reached. Instead of the tRNA, a release factor comes
in, reads the triplet and makes the entire complex of mRNA, tRNA, polypeptide fall apart.