Repetitive DNA

Elements and their

Presented by:
Role in Evolution Rameesha Saleem
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 Introduction

 How Genomes Evolve

 Types of Repetitive DNA Elements

 Role of Repetitive DNA Elements

in Genome Evolution

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Introduction

Genome size

Gene density

Genome evolution

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How Genomes Evolve
Gene duplication

Whole-genome duplications

Rearrangement of existing genes

Horizontal gene transfer

Non-coding Repetitive DNA

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Biscotti, M.A., Olmo, E. and Heslop-Harrison, J.S. (2015) Repetitive DNA in eukaryotic
genomes. Chromosome Res 23(3), 415-420 5
Transposons

(Paul, S. 2013). Biol202genetics [photograph]. 6

DNA Transposons

Classic Cut and Paste

Fedoroff, N.V. (2012) Transposable Elements, Epigenetics, and Genome Evolution. Science 338(6108), 758-767.
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Mavericks

Communicated by Margaret G. Kidwell, University of Arizona, Tucson, AZ, January 31, 2006
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Helitrons

https://en.wikipedia.org/wiki/Helitron_(biology)
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Role of DNA Transposons in
Genome Evolution
DNA transposons can inactivate or alter
the expression of genes by insertion
within regulatory regions.

DNA transposons generate introns on

genomic scale.
Lerman, D.N. and Feder, M.E. (2005) Naturally occurring transposable elements disrupt
hsp70 promoter function in Drosophila melanogaster. Mol Biol Evol 22(3), 776-783.
Huff, J.T., Zilberman, D. and Roy, S.W. (2016) Mechanism for DNA transposons to generate
introns on genomic scales. Nature 538(7626), 533-536.
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DNA transposons can initiate recombination
events between chromosomes or between
different sites on the same chromosomes.

Genomes. 2nd edition, Brown TA.

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DNA transposons can cause large scale
chromosomal rearrangements.

Generation of allelic diversity through

insertion and excision

DNA transposons are involved in Gene

transduction and Exon shuffling.

Feschotte, Cédric, and Ellen J. Pritham. “DNA Transposons and the Evolution of Eukaryotic Genomes.” Annual
review of genetics 41 (2007): 331–368. PMC. Web. 7 June 2017.
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Retrotransposons
LTR Retrotransposons

Non-LTR Retrotransposons

Finnegan, D.J. (2012) Retrotransposons. Current Biology 22(11),

R432-R437.
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Role of Retrotransposons in Genome
Evolution
Retrotransposons cause an increase in
genome size.
They have fostered genetic innovation in
the genome lineage.
Non-functional duplicate gene copies are
created by retrotranspostion.
Exonization is caused in genomes.
Cordaux, R. and Batzer, M.A. (2009) The impact of retrotransposons on human genome
evolution. Nat Rev Genet 10(10), 691-703.
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Retrotransposons cause local genomic
instability.

Cordaux, R. and Batzer, M.A. (2009) The impact of retrotransposons on human genome evolution.
Nat Rev Genet 10(10), 691-703.
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Structural Components of Chromosomes
Centromeric Repeats

Aldrup-MacDonald, M. and Sullivan, B. (2014) The Past, Present, and Future of Human Centromere
Genomics. Genes 5(1), 33.
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 Role of Centromeric Repeats in Genome
Evolution

Gene duplication map more frequently

near centromeric regions.

The centromeric repeats change

dramatically on long and short evolutionary
timescales.

Horvath, J.E., Viggiano, L., Loftus, B.J., Adams, M.D., Archidiacono, N., Rocchi, M. and Eichler, E.E. (2000) Molecular structure
and evolution of an alpha satellite/non-alpha satellite junction at 16p11. Human Molecular Genetics 9(1), 113-123.
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Library model explains the rapid evolution of
centromeric repeats.

Plohl, M., Luchetti, A., Mestrovic, N. and Mantovani, B. (2008) Satellite DNAs between selfishness and
functionality: structure, genomics and evolution of tandem repeats in centromeric (hetero)chromatin.
Gene 409(1-2), 72-82.
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Telomeric Repeats
Telomeres are found at the ends of each
chromosome and contain same sequence of bases
repeated over and over.
In humans the telomeric repeat sequence is
TTAGGG.

Churikov, Dmitri, and Price, Carolyn M(Jul 2008) Telomeric and Subtelomeric Repeat Sequences. In: eLS. John Wiley & Sons
Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005065.pub3]
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 Role of Telomeric Repeats in Genome
Evolution
Insertion of Telomeric Repeats at intrachromosomal
Break Sites.

Nergadze SG, Rocchi M,

Azzalin CM, Mondello C,
Giulotto E. 2004. Genome
Res 14: 1704-10
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Tandem Repeats
Sub-telomeric Repeats
• Lie proximal to the terminal
telomeric repeats.

•Subtelomeric sequences may

simply serve as a buffer
between the telomeric tract
and the gene-rich unique
sequences located near the
telomere.

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Role of Subtelomeric Repeats in Genome
Evolution

The homology among the distal

subtelomeric and degenerate sequences of
different chromosomes of the same species
lead to frequent homologous recombination

Churikov, Dmitri, and Price, Carolyn M(Jul 2008) Telomeric and Subtelomeric Repeat Sequences. In: eLS. John
Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005065.pub3]

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Microsatellite
• Di, tri, tetra or pentnucleotide tandem repeats in a
DNA sequence constitute microsatellites.

• They may be present in coding or non coding DNA

• In human genome the most frequent repeat is CA

repeat.

Ellegren, H. (2004) Microsatellites: simple sequences with complex evolution. Nat Rev Genet
5(6), 435-445.
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Role of Microsatellite in Genome Evolution
 The mechanism of slipped-strand mispairing
lead to rapid mutation in microsatellites and
consequent genome evolution among species.

Fondon, J. W., & Garner, H. R. Molecular origins of rapid and continuous morphological evolution. Proceedings
of the National Academy of Sciences 101, 18058–18063 (2004)
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THANKS

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