Supervisors info:
Χρήστος Κοντός, Επίκουρος Καθηγητής, Τμήμα Βιολογίας, ΕΚΠΑ
Summary:
Apoptosis is a type of programmed cell death and is considered as one of the most studied. Several molecules are involved in its regulation, while the members of BCL2 family play a vital role. The members of this family have structural homology among them and with the BCL2 gene (the name of the family derives from this gene), because they include at least one of the four BH domains (BH1, BH2, BH3, BH4). They are divided in two categories, based on their function: proapoptotic and antiapoptotic. These two categories are characterized by a distinctive combination of BH domains. More specifically, the antiapoptotic proteins include all of the four domains, while in the proapoptotic ones, the BH4 domain is absent. In the proapoptotic proteins, there is one more group of proteins which have only the BH3 domain.
Alternative splicing is a mechanism, which has been observed in eukaryotic organisms, and leads to the generation of multiple alternative transcripts from a single gene. These alternative transcripts, usually, have distinct but, often, different roles. Despite the extensive scientific research in the field of alternative splicing, there is a great number of transcripts which has not been discovered, yet. One of the genes, for which we have limited information for its role and the presence of alternative transcripts, is BOK, a member of BCL2 family. The investigation of alternative transcripts of the gene BOK was the subject of this Diploma Thesis.
Based on the extensive bioinformatical analysis, which was conducted for the collection of the existing data regarding this gene, and on the experimental procedure, which followed and included, mainly, the methods of reverse transcription, PCR, nested PCR and Sanger sequencing, we concluded in the presence of 19 novel alternative transcripts of BOK gene.
The presence of these novel transcripts opens up a new direction in research study, which could lead to the clarification of the enigmatic role this gene in apoptosis, in other signaling pathways and its potential involvement in diseases, including several types of cancer.
Keywords:
apoptosis, BCL2 family, BOK, alternative splicing, Sanger sequencing
