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Describe why maize was a good model system for the identification of transposons

Evaluate evidence demonstrating that transposons are present in maize genome (McClintock)
Review the evidence that genome rearrangements or chromosome breaks can occur because of
the movement of transposon to new position (also McClintocks work)
Describe how transposable elements might influence genome evolution

Transposons are discrete DNA sequence elements that can move from one location in the
genome to another, often under the control of transposase enzyme that is encoded by the element
itself. They make up around 3% of the human genome but are all silent and do not move unlike in
other organisms. Integrated transposable elements are flanked on both sides by short direct
repeat sequences (e.g. CTGG). They can be used to identify transposons in genome sequencing
projects. Transposons use either replicative or conservative transposition:
Retroelements transpose replicatively via an RNA intermediate, leaving a copy behind (copy &
paste). Conservative transposition moves the sequence to another location (cut & paste).

Maize was used by McClintock as a model system in studying transposons because it has a
separate male and female flower (easy to do crosses). Also, it has variegated pigmentation in
kernels caused by transposition which are easy to identify.
Maize has Ac and Ds transposable elements. Full-length Ac elements contain a functional
transposase gene. The Ds element has an internal deletion and does not code for a functional
transposase. Transposase recognises the inverted repeats at ends of the Ac and Ds elements
and catalyses transposition of both of these. Ds elements requires presence of Ac to transpose.

McClintocks work showed: Two transposons nearby on the same piece of DNA can trigger a
recombination event. This can cause the deletion of segment inbetween OR a chromosome
break. Some regions of the genome are more likely to suffer chromosome breaks. The
transposons are responsible because the chromosome break moves with the transposons.

The size of the sectors of different pigment are determined by how early in development the
transposition event occurs in development as more cells will inherit the mutation.

Flowering plant seeds are the result of double fertilisation: diploid zygote and triploid endosperm.
The colour of the kernel is determined by the triploid endosperm, not the diploid embryo.
C dom no pigment in aleurone
C rec pigment in aleurone
Bz dom purple pig
bz rec dark brown pig
McClintock used homozygous dominant males and homozygous recessive females so both
alleles are past onto the embryo and can be analysed in future generations asshe knew which
alleles were present. Include slides for experimental work.

Transposons can initiate recombination events that lead to recombination events.


Evidence for this include:
In humans, recombination is thought to have generaed the -globin gene duplication (G & A)
In mice, gene Slp codes for immune response. The tissue specificity of Slp is conferred by an
enhancer located within a transposon.
Transposons may explain the formation of TPA tissue plasminogen activator by domain shuffling.
Mutator-like transposable elements (MULE) often contain captured DNA sequences - pack-
MULEs.
Pack-MULEs can collect different gene segments to generate new genes (evidence).
5% of pack-MULEs are expressed & some sequences are translated into proteins.

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