3 Mutations in DNA are Inherited
When cells replicate their DNA, they frequently
make mistakes. Some of these mistakes result in
changes in the deoxyribonucleotide sequence.
Other changes in the original DNA template
sequence can also occur like extra deoxyribo-
nucletides can be inserted, some can be left out,
even large pieces of DNA can be accidently
deleted, added and/or moved to another location
in the DNA sequence.
The net effect of these changes is that every cell
and every organism is at least slightly different
from its ancesters, siblings and other relatives.
4 DNA must be Read to be Useful
DNA is not useful in isolation. Only the portions of
DNA that are ‘read’ are meaningful. Cells ‘read’
the DNA in a specific way, as given in the flowchart.
5 DNA Information is Packaged into Units: Gene
A gene is a portion of DNA that can be converted into RNA, plus
some additional sequences that are absolutely necessary for this
conversion to take place.
A gene is always a single linear sequence of deoxyribonucleotides
on a single piece of DNA.
It cannot be fragmented into different portions of DNA scattered
throughout different DNA molecules.
6 DNA Replicates Inside the Cell
DNA must replicate if genetic information is to be available
for transmission to daughter cells and from generation to
generation in reproduction.
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DNA information is “read” by proteins
Some proteins
bind to specific
nucleotide
sequences in
the DNA
This binding changes
the behaviour of the
proteins and information
is converted into an
mRNA by transcription
Some RNA sequences
(mRNA) are translated
into amino acid
sequences in proteins
Differences in the sequence of base pairs in
DNA give each part of DNA a slightly different
shape and these shapes are recognised by DNA
binding proteins. Many of these
proteins bind to the major or minor
grooves in the double helix of DNA.
When proteins bind to their
target sequences on DNA,
they change their shape.
This is how DNA is “read”
by proteins.
Major
groove
Minor
groove
In some cases, two
or more proteins
must be bound
together in order
to recognise and
bind to DNA
3 ′
5 ′
5 ′
3 ′
The coding sequence lies inside the
boundaries of a gene and is broken
into coding segments (exons) and
noncoding segments (introns). The
coding sequence is flanked by
regulatory sequences in the gene
and these are not transcribed.
Genes are typically not lined up
one after another in eukaryotic
DNA, they are separated by large
stretches of noncoding DNA.
Gene
Coding sequence
Exon Intron
DNA
Regulatory
sequence
Regulatory
sequence
The smallest functional unit of DNA : A gene
Gene
Gene
DNA
DNA
replication
Mistakes such as this
insertion of the wrong
deoxyribonucleotide
(G instead of T) occur
~6 times per round of
DNA replication.
One of the
daughter cells
inherits the
mutated DNA
sequence.
Transcription
If the mutation
is in a gene, a
different RNA
may be
produced.
mRNA
Translation
Polypeptide
If the mutation is
in the coding
sequence of a
gene, a different
polypeptide may
be produced.
A human cell contains
~12×10 deoxynucleotides.^9
A sequence of 8 is shown
as an example.
...AAGTCCAG...
...TTCAGGTC...
...AAGTCCAG...
...TTCAGGTC...
...AAGGCCAG...
...TTCCGGTC...
Mistakes in DNA replication may cause mutations