Upload
others
View
2
Download
0
Embed Size (px)
Citation preview
RESEARCH POSTER PRESENTATION DESIGN © 2012
www.PosterPresentations.com
(—THIS SIDEBAR DOES NOT PRINT—)
DESIGN GUIDE
This PowerPoint 2007 template produces a 91cmx122cm
presentation poster. You can use it to create your
research poster and save valuable time placing titles,
subtitles, text, and graphics.
We provide a series of online tutorials that will guide you
through the poster design process and answer your poster
production questions. To view our template tutorials, go
online to PosterPresentations.com and click on HELP
DESK.
When you are ready to print your poster, go online to
PosterPresentations.com
Need assistance? Call us at 1.510.649.3001
QUICK START
Zoom in and out As you work on your poster zoom in and out to the
level that is more comfortable to you. Go to VIEW
> ZOOM.
Title, Authors, and Affiliations Start designing your poster by adding the title, the names of the
authors, and the affiliated institutions. You can type or paste
text into the provided boxes. The template will automatically
adjust the size of your text to fit the title box. You can manually
override this feature and change the size of your text.
TIP: The font size of your title should be bigger than your
name(s) and institution name(s).
Adding Logos / Seals Most often, logos are added on each side of the title. You can
insert a logo by dragging and dropping it from your desktop,
copy and paste or by going to INSERT > PICTURES. Logos taken
from web sites are likely to be low quality when printed. Zoom
it at 100% to see what the logo will look like on the final poster
and make any necessary adjustments.
TIP: See if your school’s logo is available on our free poster
templates page.
Photographs / Graphics You can add images by dragging and dropping from your
desktop, copy and paste, or by going to INSERT > PICTURES.
Resize images proportionally by holding down the SHIFT key and
dragging one of the corner handles. For a professional-looking
poster, do not distort your images by enlarging them
disproportionally.
Image Quality Check Zoom in and look at your images at 100% magnification. If they
look good they will print well.
ORIGINAL DISTORTED Corner handles
Go
od
pri
nti
ng
qu
alit
y
Bad
pri
nti
ng
qu
alit
y
QUICK START (cont. )
How to change the template color theme You can easily change the color theme of your poster by going to
the DESIGN menu, click on COLORS, and choose the color theme
of your choice. You can also create your own color theme.
You can also manually change the color of your background by
going to VIEW > SLIDE MASTER. After you finish working on the
master be sure to go to VIEW > NORMAL to continue working on
your poster.
How to add Text The template comes with a number of pre-
formatted placeholders for headers and text
blocks. You can add more blocks by copying
and pasting the existing ones or by adding a
text box from the HOME menu.
Text size Adjust the size of your text based on how much content you
have to present.
The default template text offers a good starting point. Follow
the conference requirements.
How to add Tables To add a table from scratch go to the INSERT menu
and click on TABLE. A drop-down box will help you
select rows and columns.
You can also copy and a paste a table from Word or another
PowerPoint document. A pasted table may need to be re-
formatted by RIGHT-CLICK > FORMAT SHAPE, TEXT BOX, Margins.
Graphs / Charts You can simply copy and paste charts and graphs from Excel or
Word. Some reformatting may be required depending on how the
original document has been created.
How to change the column configuration RIGHT-CLICK on the poster background and select LAYOUT to see
the column options available for this template. The poster
columns can also be customized on the Master. VIEW > MASTER.
How to remove the info bars If you are working in PowerPoint for Windows and have finished
your poster, save as PDF and the bars will not be included. You
can also delete them by going to VIEW > MASTER. On the Mac
adjust the Page-Setup to match the Page-Setup in PowerPoint
before you create a PDF. You can also delete them from the Slide
Master.
Save your work Save your template as a PowerPoint document. For printing,
save as PowerPoint of “Print-quality” PDF.
Print your poster When you are ready to have your poster printed go online to
PosterPresentations.com and click on the “Order Your Poster”
button. Choose the poster type the best suits your needs and
submit your order. If you submit a PowerPoint document you will
be receiving a PDF proof for your approval prior to printing. If
your order is placed and paid for before noon, Pacific, Monday
through Friday, your order will ship out that same day. Next day,
Second day, Third day, and Free Ground services are offered. Go
to PosterPresentations.com for more information.
Student discounts are available on our Facebook page.
Go to PosterPresentations.com and click on the FB icon.
© 2013 PosterPresentations.com 2117 Fourth Street , Unit C Berkeley CA 94710
The World Health Organization estimates that one in every four couples in developing countries is confronted to infertility. Among couples with a desire for a child, male factor contributes approximately half of the cases.
Despite long years of assisted reproductive activities, a significant number of cases remain idiopathic. It is likely that most ‘idiopathic’ forms may have a genetic origin. At present, only a dozen of genes have been identified as responsible of an infertility phenotype in men when mutated.
Using exome sequencing, we identified two new genes involved in non obstructive azoospermia and oligozoospermia phenotype in consanguineous Turkish families.
INTRODUCTION
RESULTS
For Family B, no autosomal mutation was found. A deeper scanning of the genome reveals a no-stop mutation in an X-linked gene which causes the production of an extended protein by turning the stop codon into amino acid coding codon, leading to a 23 amino-acid extension of the protein.
Both identified genes are presenting a testis specific expression. Expression pattern was confirmed by RT-PCR on different human tissues and on testicular tissues with different histology (figure 2)
Analyzing the other family members, we could show that both mutations are co-segregating with the infertility phenotype. In addition, we could show the absence of two mutations in any of databases that collect human sequences and repertory polymorphisms among the human population and of both mutation in 107 healthy matched fertile Turkish controls were assessed. Altogether, this strongly suggest that the two identify mutations are responsible of the spermatogenic defect observed in the two families.
We also analyzed 92 unrelated Turkish individual infertile cases with non-obstructive azoospermia or severe oligozoospermia all exon and exon/intron boundaries of the two identified genes, no mutation was found.
Two Turkish consanguineous families having three well documented male infertility cases as well as at least two unaffected brothers were included in the study (figure 1). All affected males had a normal karyotype and no Y-chromosome microdeletions were found.
A whole exome sequencing of two affected males per family was performed by IGBMC microarray and sequencing platform.
Figure 1: Family pedigrees. Samples for which exome sequencing was performed indicated with blue arrow. Blue asterisk showed the mutated male with an unknown fertility status .
Okutman,O1,2;Müller, J.1,3; Serdarogullari, M.4 ; Gultomruk, M.4; Skory, V.1; Garnier, JM.1 ; Gaucherot, A.1, Bakircioglu, E.4; Bahceci, M.4; Gossens, E.5; Charlet- Berguerand, N.1; Viville, S.1,2
1IGBMC, INSERM U964/CNRS UMR 1704 /Université de Strasbourg, 67404 Illkirch, France 2Centre Hospitalier Universitaire, Strasbourg F-67000, France 3Laboratoire de diagnostic génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. 4Bahceci Health Group, Istanbul, Turkey 5Biology of the Testis, Research Laboratory for Reproduction, Genetics and Regenerative Medicine, VUB, Laarbeeklaan 103, 1090 Brussels, Belgium.
Through the quest of infertility gene: identification of two new genes involved in azoospermic and oligozoospermic patients by whole exome sequencing in
Turkish consanguineous families
Given the known consanguinity in the family, we hypothesized that the disease should follow an autosomal recessive inheritance mode and we thus tracked homozygous variants shared by both samples.
Indeed, for family A , we found a stop-gained mutation in an autosomal gene, leading in early translational arrest in the first 1/3 of the protein. Interestingly, the human phenotype is highly similar to the one observed in the mouse KO for the orthologous gene. Indeed, male KO mice are infertile with small testis and a meiotic arrest at the first wave of spermatogenesis is observed.
It should be noted that patient IV:5 in family A was diagnosed as severe oligozoospermia in 2010, however In 2014, a new semen analysis resulted in an azoospermia; no spermatozoon was detected even after concentration, suggesting a decrease of sperm count with time.
Figure 2: Expression studies for both identified genes at mRNA levels. GADPH was used as internal control for RT-PCR, individual control without reverse transcriptase added to each sample and labeled as RT(-) L: Ladder (A) RT-PCR results on different human tissues (B) RT-PCR results on human testicular samples with different histology. Sample 1-3: Sertoli cell only, sample 4-7: maturation arrest at different stages, sample 8: normal fertile, sample 9: prepubescent.
CONCLUSION
We hypothesize that identified mutation in family A may correlate with a decrease on sperm count in time, while mutation in family B shall indicate a presence of focal spermatogenesis . A diagnostic test identifying the mutation in man could prompt patients to undertake measures of precaution such as sperm cryopreservation at an early age.
Our understanding of genetic basis of male infertility has large implications not only for understanding the cause of infertility but also in determining the prognosis and management of such couples, and to provide maximum adapted therapeutics and counseling to the couple.