Alba Vilella Figuerola Genomics MSc in Advanced Genetics Universitat Autònoma de Barcelona OVERVIEW What are pseudogenes How do they arise Pseudogenes and evolution ID: 933487
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Slide1
Gene duplications:PSEUDOGENES
Alba Vilella Figuerola
Genomics
MSc
in Advanced
Genetics
Universitat Autònoma de Barcelona
Slide2OVERVIEW
What
are
pseudogenes
?
How
do
they
arise
?
Pseudogenes
and
evolution
Do
they
have
a
function
?
PTEN
and
PTENP1
Regulation
of
nNOS
Slide3Pseudogene
: copy of a gene that has lost the capacity to produce a functional protein.
(Pink et al, 2013)
First discovered in
X.
laevis
in 1977 by
Jacq
et. al
Presents
in plants, bacteria, insects, nematode worms and
mammals
.
Nowadays
we know that, in humans, are almost as numerous as coding genes (10,000 – 20,000).
Slide4How do they arise?
Pink, R.
C. et al (2013)
Slide5Most of them are copies of housekeeping
genes
.
Gerstein M,
Zheng
D. (2006)
Slide6Pseudogenes and Evolution
They
are
sometimes
considered
to represent neutral sequence
can accumulate mutations
that are
not
selectedBut:Do
not
have
as
many
STOP codons as they should have if being under neutral selection.Some have conserved sequences (ORFs, coding sequence...)50% conserved with Rhesus monkey3% conserved with mice
Then....
DO THEY HAVE A
FUNCTION
?
Slide7Most of them are TRANSCRIBED
Their
RNA (
lnc
-RNA) can be
detected
by
RNA-seqMicroarraysRT-PCR
Can have tissue-specific transcription
.Can have a different expression
pattern from parental genes.
Slide8So... What is their Function?
Poliseno
, L. et al (2015)
Slide9Pink, R.
C. et al (2013)
Slide10EVIDENCES:
PTEN
and
PTENP1
In normal
conditions
:
PTEN
PTENP1
RNAm
Degradation
miRNA
Slide11EVIDENCES: PTEN and PTENP1
In
cancer
:
PTEN
PTENP1
RNAm
Degradation
For
example
in colon
cancer
.
Slide12EVIDENCE: Regulation of nNOS
Lymnaea
stagnalis
Korneev
, S. et al (1999)
Slide13CONCLUSIONSPseudogenes are
sequences
that
normally do
not
produce protein and that
, in some cases, can be transcribed.Pseudogenes are
conserved.They have functional
roles as lnc-RNA: gene regulationincreasing
variability and new gene
production
production
of
proteins
analogous to the ones coded in the parental genesThey are implicated in some diseases.
Slide14ReferencesGerstein M, Zheng D; (2006). The real life of
pseudogenes
. Sci. Am. 295(2): 48–55
Groen
, J. N.,
Capraro
, D.,
Morris
, K. V. (2014). The emerging role of pseudogene expressed non-coding RNAs in cellular functions. International Journal of Biochemistry and Cell Biology, 54, 350–355. doi:10.1016
/j.biocel.2014.05.008Korneev, S. a, Park, J. H., O’Shea, M. (1999).
Neuronal expression of neural nitric oxide synthase (nNOS) protein is suppressed by an antisense RNA transcribed from an NOS pseudogene. The Journal of Neuroscience : The Official Journal of the Society for Neuroscience, 19(18), 7711–7720.
Milligan, M. J., & Lipovich, L. (2014). Pseudogene-derived lncRNAs: emerging regulators of gene expression
. Frontiers in Genetics, 5(February), 476. doi:10.3389/fgene.2014.00476Pink, R. C., Carter
, D. R. F. (2013).
Pseudogenes
as regulators of biological function
. Essays in Biochemistry, 54, 103–12.
doi:10.1042
/bse0540103Pink, R. C., Wicks, K., Caley, D. P., Punch, E. K., Jacobs, L., Raul, D., Carter, F. (2011). Pseudogenes: Pseudo-functional or key regulators in health and disease? RNA, 17, 792–798. doi:10.1261/rna.2658311.transcriptionPoliseno, L., Marranci, A., Pandolfi, P. P. (2015). Pseudogenes in Human Cancer. Frontiers in Medicine, 2(September), 1–8. doi:10.3389/fmed.2015.00068