GENETIC INFORMATION

This is all information about a person physical including, gender, race, height, weight, and other
features that are related, in whole or in part, to that person's genetic inheritance. The basic flow
of genetic information in biological systems is often depicted in a scheme known as "the central
dogma" This scheme states that information encoded in DNA flows into RNA via transcription
and ultimately to proteins via translation.

Genotype refers to the information stored in the DNA of the organism (genetic information), the
sequence of the nucleotides, and the compilation of its genes. Phenotype refers to any physical
characteristic that you can measure (expressed genetic information), such as height, weight,
amount of ATP produced, ability to metabolize lactose, response to environmental stimuli, etc.
Differences in genotype, even slight, can lead to different phenotypes that are subject to natural
selection.
Genetic information is stored in the sequence of bases along a nucleic acid chain. The bases
have an additional special property: they form specific pairs with one another that are stabilized
by hydrogen bonds. The base pairing results in the formation of a double helix, a helical structure
consisting of two strands. These base pairs provide a mechanism for copying the genetic
information in an existing nucleic acid chain to form a new chain.

GENE
A gene is the basic physical and functional unit of heredity and are made up of DNA. Some
genes act as instructions to make molecules called proteins, however, many genes do not code
for proteins. A gene is a segment of DNA in an organism's genome that encodes a functional
RNA (such as rRNA, tRNA, etc.) or protein product (enzymes, tubulin, etc.).
Every person has two copies of each gene, one inherited from each parent. Most genes are the
same in all people, but a small number of genes (less than 1 percent of the total) are slightly
different between people. Alleles are forms of the same gene with small differences in their
sequence of DNA bases. These small differences contribute to each person’s unique physical
features.
Genes are made up of DNA. Each chromosome contains many genes.

Genes can acquire mutation (changes in the in the composition and or sequence of the
nucleotide) either in the coding or regulatory regions. These mutations can lead to several
possible outcomes:
 Nothing measurable happens as a result;
 The gene is no longer expressed;
 The expression or behavior of the gene product(s) are different.
The genetic code is the set of rules used by living cells to translate information encoded within
genetic material (DNA or mRNA sequences of nucleotide triplets, or codons) into proteins.
Genes specify the kinds of proteins that are made by cells, but DNA is not the direct template for
protein synthesis. Rather, the templates for protein synthesis are RNA (ribonucleic acid)
molecules. In particular, a class of RNA molecules called messenger RNA (mRNA) are the
information-carrying intermediates in protein synthesis. Other RNA molecules, such as transfer
RNA (tRNA) and ribosomal RNA (rRNA), are part of the protein-synthesizing machinery. All
forms of cellular RNA are synthesized by RNA polymerases that take instructions from DNA
templates. This process of transcription is followed by translation, the synthesis of proteins
according to instructions given by mRNA templates. Thus, the flow of genetic information,
or gene expression, in normal cells is:

This flow of information is dependent on the genetic code, which defines the relation between
the sequence of bases in DNA (or its mRNA transcript) and the sequence of amino acids in a
protein. The code is nearly the same in all organisms: a sequence of three bases, called a codon,
specifies an amino acid. Codons in mRNA are read sequentially by tRNA molecules, which
serve as adaptors in protein synthesis. Protein synthesis takes place on ribosomes, which are
complex assemblies of rRNAs and more than 50 kinds of proteins.

GENE EXPRESSION

This is the process by which the genetic code of a gene is used to direct protein synthesis and
produce the structures of the cell. Genes that code for amino acid sequences are known as
'structural genes'. The process involves two steps transcription and translation.
 Transcription: the production of messenger RNA (mRNA) by the enzyme RNA
polymerase, and the processing of the resulting mRNA molecule.
 Translation: the use of mRNA to direct protein synthesis, and the subsequent post-
translational processing of the protein molecule.

A structural gene involves a number of different components:

 Exons. Exons code for amino acids and collectively determine the amino acid sequence
of the protein product (the protein-coding regions). It is these portions of the gene that are
represented in final mature mRNA molecule.
 Introns. Introns are portions of the gene that do not code for amino acids, and are
removed (spliced) from the mRNA molecule before translation (before the mature
mRNA leaves the nucleus).

Gene control regions

 Start site. A start site for transcription.
 A promoter. A region a few hundred nucleotides 'upstream' of the gene (toward the 5'
end). It is not transcribed into mRNA, but plays a role in controlling the transcription of
 the gene. Transcription factors bind to specific nucleotide sequences in the promoter
region and assist in the binding of RNA polymerases.
 Enhancers. Some transcription factors (called activators) bind to regions called
'enhancers' that increase the rate of transcription. These sites may be thousands of
nucleotides from the coding sequences or within an intron. Some enhancers are
conditional and only work in the presence of other factors as well as transcription factors.
 Silencers. Some transcription factors (called repressors) bind to regions called 'silencers'
that depress the rate of transcription.

TRANSCRIPTION
Transcription is the process of RNA synthesis/ is the process of creating a complementary RNA
copy of a sequence of DNA. The process is controlled by the interaction of promoters and
enhancers. During transcription, a DNA sequence is read by RNA polymerase, which produces a
complementary, antiparallel RNA strand. Unlike DNA replication, transcription results in an
RNA complement that substitutes the RNA uracil (U) in all instances where the DNA
thymine (T) would have occurred. Transcription is the first step in gene expression. The stretch
of DNA transcribed into an RNA molecule is called a transcript. Some transcripts are used as
structural or regulatory RNAs, and others encode one or more proteins. If the transcribed gene
encodes a protein, the result of transcription is messenger RNA (mRNA), which will then be
used to create that protein in the process of translation. Several different types of RNA are
produced, including messenger RNA (mRNA), which specifies the sequence of amino acids in
the protein product, plus transfer RNA (tRNA) and ribosomal RNA (rRNA), which play a role
in the translation process.
Transcription involves four steps:
1. Initiation. The DNA molecule unwinds and separates to form a small open complex.
RNA polymerase binds to the promoter of the template strand.
2. Elongation. RNA polymerase moves along the template strand, synthesising an mRNA
molecule. In prokaryotes RNA polymerase is a holoenzyme consisting of a number of
subunits, including a sigma factor (transcription factor) that recognises the promoter. In
eukaryotes there are three RNA polymerases: I, II and III. The process includes a
proofreading mechanism.
3. Termination. In prokaryotes there are two ways in which transcription is terminated.
In Rho-dependent termination, a protein factor called "Rho" is responsible for
disrupting the complex involving the template strand, RNA polymerase and RNA
molecule. In Rho-independent termination, a loop forms at the end of the RNA
molecule, causing it to detach itself. Termination in eukaryotes is more complicated,
involving the addition of additional adenine nucleotides at the 3' of the RNA transcript (a
process referred to as polyadenylation).
4. Processing. After transcription the RNA molecule is processed in a number of ways:
introns are removed and the exons are spliced together to form a mature mRNA molecule
consisting of a single protein-coding sequence. RNA synthesis involves the normal base
pairing rules, but the base thymine is replaced with the base uracil.
TRANSLATION
Translation is the process by which mRNA is decoded and translated to produce a polypeptide
sequence, otherwise known as a protein. This method of synthesizing proteins is directed by the
mRNA and accomplished with the help of a ribosome, a large complex of ribosomal RNAs
(rRNAs) and proteins. In translation, a cell decodes the mRNA’s genetic message and assembles
the brand-new polypeptide chain. Transfer RNA, or tRNA, translates the sequence of codons on
the mRNA strand. The main function of tRNA is to transfer a free amino acid from the
cytoplasm to a ribosome, where it is attached to the growing polypeptide chain. tRNAs continue
to add amino acids to the growing end of the polypeptide chain until they reach a stop codon on
the mRNA. The ribosome then releases the completed protein into the cell. In translation the
mature mRNA molecule is used as a template to assemble a series of amino acids to produce a
polypeptide with a specific amino acid sequence. The complex in the cytoplasm at which this
occurs is called a ribosome. Ribosomes are a mixture of ribosomal proteins and ribosomal RNA
(rRNA), and consist of a large subunit and a small subunit.

Translation involves four steps:

1. Initiation. The small subunit of the ribosome binds at the 5' end of the mRNA molecule
and moves in a 3' direction until it meets a start codon (AUG). It then forms a complex
with the large unit of the ribosome complex and an initiation tRNA molecule.
2. Elongation. Subsequent codons on the mRNA molecule determine which tRNA
molecule linked to an amino acid binds to the mRNA. An enzyme peptidyl transferase
links the amino acids together using peptide bonds. The process continues, producing a
chain of amino acids as the ribosome moves along the mRNA molecule.
3. Termination. Translation in terminated when the ribosomal complex reached one or
more stop codons (UAA, UAG, UGA). The ribosomal complex in eukaryotes is larger
and more complicated than in prokaryotes. In addition, the processes of transcription and
translation are divided in eukaryotes between the nucleus (transcription) and the
cytoplasm (translation), which provides more opportunities for the regulation of gene
expression.
4. Post-translation processing of the protein
GENE REGULATION
Gene regulation is a label for the cellular processes that control the rate and manner of gene
expression. A complex set of interactions between genes, RNA molecules, proteins (including
transcription factors) and other components of the expression system determine when and where
specific genes are activated and the amount of protein or RNA product produced.

Some genes are expressed continuously, as they produce proteins involved in basic metabolic
functions; some genes are expressed as part of the process of cell differentiation; and some genes
are expressed as a result of cell differentiation.
Mechanisms of gene regulation include:
 Regulating the rate of transcription. This is the most economical method of regulation.
 Regulating the processing of RNA molecules, including alternative splicing to produce
more than one protein product from a single gene.
 Regulating the stability of mRNA molecules.
 Regulating the rate of translation.
Transcription factors are proteins that play a role in regulating the transcription of genes by
binding to specific regulatory nucleotide sequences.