Uloga PRDM9 gena u procesu rekombinacije DNA

master's thesis

• Title (english): The role of PRDM9 gene in the process of DNA recombination
• Author: Magdalena Matijević
• Mentor: Maja Ferenčaković (mentor)
• Committee member: Maja Ferenčaković (predsjednik povjerenstva)
• Committee member: Ino Čurik (član povjerenstva)
• Committee member: Vlatka Čubrić Čurik (član povjerenstva)
• Granter: University of Zagreb; Faculty of Agriculture; (Animal Science); Zagreb
• Defense date and country: 2018-07-20, Croatia
• Scientific / art field, discipline and subdiscipline: BIOTECHNICAL SCIENCES; Agronomy

Abstract

Pojava rekombinacije između dvaju homolognih kromosoma u mejozi je, skupa sa mutacijama, signifikantan parametar varijabilnosti u prirodi te same selekcije (njene efektivnosti i uspjeha). Frekvencija rekombinacije utječe na mnoge različite parametre populacijske genetike, poput strukture inbreedinga te pojave linkage disequilibriuma (LD).
PRDM9 protein je koji sadrži ‘zinc finger’ domenu kojom se veže na DNA na specifičnim lokacijama unutar genoma, determinirajući time rekombinacijske hotspotove tijekom mejoze u mnogih vrsta. Na istima vrši trimetilaciju H3K4 i H3K36, reorganizirajući time nukleosomsku strukturu i stvarajući mjesto za formaciju DNA DSBa, potrebnog za razmjenu genetske informacije između homologa. Unatoč tomu što ovaj mehanizam nije u potpunosti objašnjen, najnovije tehnologije pomogle su razotkriti neke njegove dijelove te samim time sugerirati da je navedeni proces mnogo kompleksniji nego što se smatralo.
Mnoge stvari još su nerazjašnjene u procesu mejotske rekombinacije, no sa brzim razvojem tehnologije više će pitanja biti postavljeno i odgovoreno daljnjim istraživanjima.
Nadalje, PRDM9 gen ima veliku ulogu u nasljeđivanju te frekvencijama rekombinacija. Za primjer, PRDM9 aleli mogu utjecati na kromosomski razmještaj u ljudi, uzrokujući neke nasljedne bolesti.

Abstract (english)

The appearance of recombination between homologous chromosomes in meiosis is, along with mutations, a significant parameter of the variability in nature, and furthermore, selection itself (and its efficiency and success). The frequency of recombination affects many different population-wise genetic parameters like genome inbreeding structure and the appearance of LD (linkage disequilibrium). PRDM9 is a zinc finger protein that binds DNA at specific locations in the genome where it trimethylates H3K4 and H3K36 at surrounding nucleosomes. During meiosis in many species, these actions determine the location of recombination hotspots. It also reorganizes local nucleosomal structure, creating a nucleosome-free center where the DNA DSB required for DNA exchange between chromosomes is formed. Although this mechanism wasn't completely clarified, the newest technologies helped discover parts of it and therefore suggest that this process is more complex than what was previously thought. A lot of things yet remain unknown in the process of meiotic recombination, but with rapid development of technology more questions will be asked and hopefully answers unveiled with further research. Furthermore, PRDM9 gene has a big role in inheritance and recombination frequencies. As an example, PRDM9 alleles influence human chromosomal rearrangements, causing hereditary diseases.

• Keywords: PRDM9; genetska rekombinacija; mejoza; varijabilnost; kromosomi
• Keywords (english): PRDM9; genetic recombination; meiosis; variability; chromosome
• Language: croatian
• URN:NBN: urn:nbn:hr:204:368525
• Study programme: Title: Animal Genetics and Breeding; Study programme type: university; Study level: graduate; Academic / professional title: magistar/ magistra inženjer/inženjerka genetike i oplemenjivanja životinja (magistar/ magistra inženjer/inženjerka genetike i oplemenjivanja životinja)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2018-09-06 07:28:54