Spectrum Biology - September 2016

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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
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