Proteomic approach of spliceosome's function in normal and pathological conditions-Down Syndrome

Doctoral Dissertation uoadl:1309313 301 Read counter

Unit:
Τομέας ΙΙ [Οργανική Χημεία – Οργανική Χημική Τεχνολογία – Χημεία Τροφίμων]
Library of the School of Science
Deposit date:
2013-06-28
Year:
2013
Author:
Ξανθοπούλου Φωτεινή-Αλεξάνδρα
Dissertation committee:
Αθανασία Σιαφάκα Καθηγ. (Επιβλέπουσα), Ντία Γαλανοπούλου Αναπλ. Καθηγ., Γεώργιος Τσάγκαρης ΕΛΕ Βαθμίδας Α, ΙΙΒΕΑΑ
Original Title:
Πρωτεωμικά προσέγγιση της λειτουργίας του σωματίου ματίσματος σε φυσιολογικές και παθολογικές καταστάσεις-σύνδρομο Down
Languages:
Greek
Translated title:
Proteomic approach of spliceosome's function in normal and pathological conditions-Down Syndrome
Summary:
In this thesis we studied the chorionic villi cultured cells. In the context of
studying these
cells we established primary cell cultures from the original trophoblastic
tissue and
examined the presence of mesenchymal cell populations with FACS. The cells
ability to
differentiate, into osteogenic and neural lineages in particular, was also
verified via
differentiation experiments.
The proteomic profile of chorionic villi cultured cells was studied by
2-dimensional
polyacrylamide gel electrophoresis. Comparison of normal fetuses-derived
chorionic villi
cultured cells proteomic profile and the proteins expressed in cells derived
from fetuses
where Down syndrome has been previously diagnosed with the use of cytogenetic
techniques, revealed several proteins that were differentially expressed and
could
therefore be further examined for their potential use as markers/targets for
this
aneuploidy. However, given that the spliceosome, that is located in the
nucleus, and its
abberant isoforms, have been previously related to the syndrome’s phenotype,
emphasis has been put on proteins expressed in that particular subcellular
location.
Splicing factor 3a2, found to be localized in the nuclear speckles by confocal
microscopy, was found to be missing a possibly crucial for the unimpaired
function of
the spliceosome fraction of 5kDa in Down syndrome samples. Immunoprecipitation
assays followed by 2DE analysis have not been fully able to reveal the broader
picture
of the proteins affected by this abnormality, due to technique limitations; yet
as in other
pregnancy-associated pathological conditions, gelsolin seems to be down
regulated in
trisomic cells.
Keywords:
Proteomics, Spliceosome, Down Syndrome, Chorionic villi
Index:
No
Number of index pages:
0
Contains images:
Yes
Number of references:
202
Number of pages:
218
File:
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