Pergamos - Library and Information Center of National and Kapodistrian University of Athens

Unit:

Κατεύθυνση Εφαρμογές της Βιολογίας στην Ιατρική
Library of the School of Science

Deposit date:

2018-09-27

Year:

2018

Author:

Ntouliou Evangelia

Supervisors info:

ΔΗΜΗΤΡΙΟΣ ΣΤΡΑΒΟΠΟΔΗΣ, ΕΠΙΚΟΥΡΟΣ ΚΑΘΗΓΗΤΗΣ, ΤΟΜΕΑΣ ΒΙΟΛΟΓΙΑΣ ΚΥΤΤΑΡΟΥ ΚΑΙ ΒΙΟΦΥΣΙΚΗΣ, ΤΜΗΜΑ ΒΙΟΛΟΓΙΑΣ, ΕΘΝΙΚΟ ΚΑΙ ΚΑΠΟΔΙΣΤΡΙΑΚΟ ΠΑΝΕΠΙΣΤΗΜΙΟ ΑΘΗΝΩΝ

ΔΗΜΗΤΡΙΟΣ ΜΠΕΗΣ, ΕΡΕΥΝΗΤΗΣ Γ’, ΕΡΓΑΣΤΗΡΙΟ ΑΝΑΠΤΥΞΙΑΚΗΣ ΒΙΟΛΟΓΙΑΣ, ΙΔΡΥΜΑ ΙΑΤΡΟΒΙΟΛΟΓΙΚΩΝ ΕΡΕΥΝΩΝ ΤΗΣ ΑΚΑΔΗΜΙΑΣ ΑΘΗΝΩΝ

ΙΣΙΔΩΡΑ ΠΑΠΑΣΙΔΕΡΗ, ΚΑΘΗΓΗΤΡΙΑ, ΤΟΜΕΑΣ ΒΙΟΛΟΓΙΑΣ ΚΥΤΤΑΡΟΥ ΚΑΙ ΒΙΟΦΥΣΙΚΗΣ, ΤΜΗΜΑ ΒΙΟΛΟΓΙΑΣ, ΕΘΝΙΚΟ ΚΑΙ ΚΑΠΟΔΙΣΤΡΙΑΚΟ ΠΑΝΕΠΙΣΤΗΜΙΟ ΑΘΗΝΩΝ

Original Title:

ΜΕΛΕΤΗ ΜΙΑΣ ΜΕΤΑΛΛΑΓΜΕΝΗΣ ΣΕΙΡΑΣ ZEBRAFISH ΠΟΥ ΠΑΡΟΥΣΙΑΖΕΙ ΕΛΛΑΤΩΜΑΤΙΚΗ ΚΑΡΔΙΑΚΗ ΑΝΑΠΤΥΞΗ

Languages:

Greek

Translated title:

STUDY OF A ZEBRAFISH (DANIO RERIO) MUTANT LINE WITH DEFECTIVE CARDIAC DEVELOPMENT

Summary:

The topic of our study is the zebrafish (danio rerio) mutant line s274, which was identified in a forward genetic screen. The s274mutants are characterized by defective heart development. The phenotype is inherited in an autosomal recessive pattern and results in embryonic lethality.
The principal symptom of the s274 phenotype is the detachment of the myocardium from the endocardium, which is observable in embryos after the developmental stage of 48 hours post fertilization. However, afterthorough examination ofthe mutant phenotype,we discovered that a form of defective cardiac phenotype can be identified in embryos as young as 24 hours post fertilization.
The main part of our project consists of the mapping of the mutation site in chromosome 12.Using online biological databases, we evaluated the possible mutations which have been previously identified via comparison of mutant and wild-type embryo RNA-sequencing data,in an attempt to identify the mutations most probable to be responsible for the phenotype.
Finally, we proceeded to genotypic analysis of adult carriers of the s274 mutation (heterozygotes) and mutant embryos (homozygotes), for seven potential mutations. Perfect cosegregation of the phenotype and the expected genotype was observed in four of the mutations that were tested. As a result, we could not identify which mutation is responsible for the phenotype.

Main subject category:

Science

Keywords:

cardiac development, forward genetic analysis, genotype, phenotype, mutation, biological databases

Index:

Yes

Number of index pages:

Contains images:

Yes

Number of references:

Number of pages:

124