Transposable elements (lecture 16)

● Movement of small segments of DNA called transposable elements from one position to
another in the genome.
● Ac= autonomous element—> This means that it encodes the information necessary for
their own movement and for the non-autonomous element
● Ds= nonautonomous movement—> They need to be expressed along with autonomous
elements
● Ds is a non-autonomous element; break point in chromosome 9

❖ Cannot break a chromosome by itself, and requires Ac element, which encodes a

transpose.
❖ Transposase is an enzyme that catalyzes transposition and transports it to the target
site.

❖ Remember: Ac element
Required for the Ds-mediated chromosome breakage. If there is no AC, no activation of
the Ds, even if the Ds is present ( it does not self activate)

❖ Remember: Dc element
If Ac is present and there is no Dc there is no chromosomal breakage. Dc is required for
the breakage to happen

➢ Possible genotypes and corresponding phenotypes

● c-m(Ac)---> the autonomous can act on its own it does not need Dc for it to transposase
● In the 3rd picture, the autonomous Ac is removing the non-autonomous Ds element
from the gene. Reverting the gene back to the wild type. Ds was initially disrupting the
gene function. That is why we see the purple spots.
 Mechanism of transposition in corns
● The tranposbale elements are flanked by short repeats which are regnized by the
tranposase in order to excise them. The tranposase then cuts a target-site DNA,
incorporates the transposbale elements.

● Transposbale elements are common

Drosophila: Approx 12.5% of the genome
Humans: 34% of the genome

➢ Two main classes in eukaryotes: Retrotransposons and DNA transposons

● Retrotransposons are coded in the DNA and result in the creation of a reverse
transcriptase—similar to retrovirus
● Reverse transcriptase reverses the mRNA into a DNA molecule

If there are so many transposable elements in the organisms’ genomes, how do we survive?

● Transposable elements are often inserted in the intronic regions of the genes
● They are often mutated and thus inactivated. This can be because they lack the flanking
repeats or they do not code for a transpose.
● They are epigentically silenced in hetrochromatin regions on the genome.
● They can still be constantly mutated.

The effects that transposbale elements can have on the genomes are:

● Unequal crossing over between them can take place, and this can lead to deletion or
duplication.
● Two transposons can form large, composite transposons. The transpose recognizes the
innermost inverted repeats
● You can use the transposable elements to make transgenic lines of flies. You inject a fly
embryo in the location where the germ cells are found with a plasmid containing
transposable elements with the ry+ gene and another plasmid that encodes for a
transposase. Inject a fly embryo with a transposable element carrying the ry+ gene
and a transposase-encoding helper plasmid. Transposase facilitates ry+
integration into the genome, and subsequent crosses with ry-/ry- flies yield
offspring with the rosy eye phenotype
Mutations

● Mutations are changes in the genes from one allelic form to another. They are the driving
form of allelic variations that can give to novel alleles.

➢ Can rise spontaneously during normal replications in any cell at any time
➢ By being induced by a mutagen

● Only mutations in the germ-line cells can be transmitted to progeny

● Inherited mutations appear as alleles in a population of individuals
● Mutations affecting phenotype occur very rarely, but those can be in somatic or germline
cells.
● The rate of forward mutations is almost ALWAYS higher than the rate of reverse
mutations.

★ Categories of deoxynucleotides

● Pyrimidines (one ring) : Cytosine,Thymine, and Uracil (CUT)

● Purine (two rings) : adenine and guanine (Pure as Gold)

★ Categories of Mutations

● Wild type: Alleles whose frequency is more than 1%

● Mutant: Has an allele frequency of less than 1% of the population
● Substitution (point mutation): When base is replaced by another base.

❖ Transition: Base changes to another same kind ( pyrimidine changes to pyrimidine or

purine changes to purine). They happen more often and less impact.
❖ Transversion: base changes to a different kind of base ( pyrimidine changes to purine
or vice versa)

★ Indel mutations

● Deletion: A block of one or more base pairs is lost.

● Insertion: A block of one or more base pairs is added
● This can occur during a normal replication process
● Often occurs when there are repeat segments of nucleotides or during crossing over
● Insertion and deletion can result in a frameshift mutation.

Newly synthesized strand slips: Insertion, During DNA replication, a new strand is
synthesized based on the the TEMPLATE strand. If during the synthesis of the new strand,
there is a slip an extra base or bases added to the growing strand
Template strand slips: Deletion, the template strand is the one that the new strand is being
built on. If the template strand temporarily slips, a base may be skipped leading to a deletion
mutation.

● Reciprocal translocation: Parts of two non-homologous chromosomes changes place.

★ Causes of Mutation