Mehanizmi nastanka CNV-a i posljedice na ljudsko zdravlje

undergraduate thesis

• Title (english): Mechanisms of CNV formation and their effect on the human health
• Author: Ivana Šašek
• Mentor: Petra Korać (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2015, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Strukturne varijacije pridonose različitosti genoma jedinki iste vrste, a mogu biti nestabilne, kao što su varijacije u broju kopija (CNV. Od eng. copy-number variations), ili stabilne, kao što su recipročne translokacije. CNV čine segmenti DNA veličine od 1 kb do nekoliko megabaza. Delecije, duplikacije, triplikacije, insercije i translokacije mogu biti posljedica pojave takvih varijacija. CNV-ovi se mogu nasljeđivati od roditelja ili povremeno pojavljivati de novo u genomu, a kao stimulatori u njihovom nastajanju sudjeluju male kopije ponavljanja (LCR, od eng. low copy repeats). Cilj ovog rada je objasniti molekularne mehanizme koji dovode do nastanka CNV-a i njihov utjecaj na ljudsko zdravlje. Najvažniji mehanizmi su nealelska homologna rekombinacija, sparivanje nehomolognih krajeva kromosoma i replikativni mehanizmi. Ovisno o vrsti mehanizmima kojim nastaju, CNV-ovi su podijeljeni u dvije skupine: učestali CNV-ovi (recurrent CNV) i rijetki CNV-ovi (non-recurrent CNV). CNV se povezuje s nastankom bolesti imunološkog i živčanog sustava, a najviše istraživanja je provedeno na pacijentima oboljelih od autoimunih bolesti, shizofrenije i autizma. S razvojem novih metoda i tehnologija uloga CNV-a u razvoju poremećaja i bolesti bit će ekspirmentalno potvrđena, a molekularni mehanizmi njihovog nastanka omogućit će razvoj genskih terapija i uspješnije liječenje bolesti.

Abstract (english)

Structural variations of the genome contribute to the diversity of individuals and can be unstable, such as copy-number variations (CNV), or stable, such as reciprocal translocations. CNVs are segments of DNA ranging from one kilobase to several megabases in size. Deletions, duplications, insertions and translocations may be the cause of these variations. The aim of this review is to explain the mechanisms of CNV formation and their consequences on human health. The most important mechanisms are nonallelic homologus recombination (NAHR), nohomologus end joining (NHEJ) and replicative mechanisms. Depending on the type of the mechanism that CNVs are formed by, they are divided into two major categories: recurrent CNVs and non-recurrent CNVs. CNVs are associated with the occurrence of the diseases in the immune and nervous systems. Most of the research has been done in patients that suffer from autoimmune diseases, schizophrenia and autism. With the development of new methods and technologies, the role of CNVs in the occurrence of different diseases will be experimentally confirmed, and molecular mechanisms of their formation will allow the development of gene therapies.

• Keywords: varijacije u broju kopija; CNV
• Keywords (english): copy-number variations; CNV
• Language: croatian
• URN:NBN: urn:nbn:hr:217:506964
• 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: 2017-12-18 13:23:12