Pokretni genetički elementi i stabilnost genoma

undergraduate thesis

• Title (english): Transposable genetic elements and genome stability
• Author: Iris Bertoncelj
• Mentor: Višnja Besendorfer (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2023-09-12, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Pokretni genetički elementi široko su rasprostranjeni u genomu i utječu na njegovu stabilnost.
Transpozoni LINE-1, Alu i SVA su aktivni i mogu se pokretati, dok su ostali transpozoni prisutni
u genomu inaktivni. Transpozoni su najčešće utišani pomoću metilacije molekule DNA,
histonskih modifikacija i malih molekula RNA. Pokretni genetički elementi mogu negativno
utjecati na stabilnost genoma na različite načine. Mogu uzrokovati greške prilikom popravka
dvolančanih lomova, insercijom inaktivirati gene te uzrokovati delecije, duplikacije i
kromosomske rearanžmane. Također mogu u genom uvesti alternativne promotore, pojačivače i
mjesta prekrajanja te tako utjecati na ekspresiju gena. Izvor su mikrosatelita. Prisutnost
transpozona u genomu može dovesti do epigenetičkog utišavanja susjednih gena. Pokretni
genetički elementi povezani su s velikim brojem bolesti, uključujući genetičke poremećaje te
različite tipove raka. Međutim, točni mehanizmi kojima transpozoni uzrokuju bolesti većinom
nisu poznati te su stoga potrebna daljnja istraživanja na ovom području.

Abstract (english)

Transposable elements are widely distributed in the genome and affect its stability. LINE-1, Alu,
and SVA elements are active and capable of mobilization, while other transposons present in the
genome are inactive. Transposons are normally silenced by DNA methylation, histone
modifications and small RNAs. Transposable genetic elements can negatively affect genome
stability in different ways. They can disrupt double-strand break repair, inactivate genes via
insertion and cause deletions, duplications and chromosome rearrangements. Additionally, they
can affect gene expression by introducing alternative promoters, enhancers and splice sites. They
are a source of microsatellites. The presence of transposons in the genome can result in
epigenetic silencing of neighboring genes. Transposable genetic elements are associated with a
large number of diseases, including genetic disorders and various types of cancer. However, the
precise mechanisms by which transposons cause diseases are largely unknown. Therefore,
further research in this area is required.

• Keywords: transpozoni; nestabilnost genoma; mutacije; genetički poremećaji; rak
• Keywords (english): transposons; genome instability; mutations; genetic disorders; cancer
• Language: croatian
• URN:NBN: urn:nbn:hr:217:495098
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: undergraduate; Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-09-19 11:15:41