Ekspresija proteina za popravak DNA u testisu miševa s homozigotnom mutacijom u genu SPRTN

master's thesis

• Title (english): DNA repair protein expression in testis of mice with a homozygous mutation in the SPRTN gene
• Author: Žana Barun
• Mentor: Ivana Marinović Terzić (mentor)
• Mentor: Nada Oršolić (sumentor)
• Committee member: Nada Oršolić (predsjednik povjerenstva)
• Committee member: Jasna Lajtner (član povjerenstva)
• Committee member: Sofia Ana Blažević (član povjerenstva)
• Committee member: Antun Alegro (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2022-02-03, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Spermatogeneza je složen proces reguliran velikim brojem gena. Identifikacija specifičnih
proteina u tkivu testisa ključna je za razumijevanje pravilnog razvoja zametnih stanica. U ovoj
studiji istražili smo mijenja li se ekspresija proteina koji imaju ulogu u spermatogenezi i popravku
DNA s obzirom na poremećaj funkcije proteina Spartan. Protein Spartan (kodiran SPRTN genom)
uklanja DNA lezije koje mogu zaustaviti replikaciju i dovesti do nastanka dvolančanih lomova i
genomske nestabilnosti. Mutacije u genu SPRTN uzrokuju nastanak hepatocelularnog karcinoma
te sindroma preuranjenog starenja nazvanog Ruijs-Aalfs, poznatog i kao Spartan sindrom. U
ranijim studijama je dokazana veća ekspresija SPRTN gena u testisima u odnosu na ostala tkiva
što ukazuje na njegovu važnu ulogu u tkivu testisa. U našoj studiji testirali smo promjene izražaja
odabranih proteina uključenih u održavanje stabilnosti DNA i replikaciju. Imunohistokemijskom
metodom pokazali smo da postoji promijenjena ekspresija pojedinih proteina u tkivu testisa miševa
s homozigotnom mutacijom u genu SPRTN.

Abstract (english)

Spermatogenesis is a complex process regulated by a large number of genes. Identification
of specific proteins in testicular tissue is important for development of germ cells. In this study,
we investigated whether the expression of proteins that play a role in spermatogenesis and DNA
repair changes with dysfunction of Spartan protein. The Spartan protein (encoded by the SPRTN
gen) removes DNA lesions that can stop replication and lead to double-stranded breaks and
genomic instability. Mutations in the SPRTN gene cause hepatocellular carcinoma and a syndrome
of premature aging called Ruijs-Aalfs, also known as Spartan syndrome. Previous studies have
shown greater expression of the SPRTN gene in the testes compared to other tissues indicating its
important role in testicular tissue. By immunohistochemical method, we showed that there is an
altered expression of certain proteins in testis tissue of mice with a homozygous mutation in the
SPRTN gene.

• Keywords: spermatogeneza; ekspresija proteina; imunohistokemija; transgenični miševi
• Keywords (english): spermatogenesis; protein expression; immunohistochemistry; transgenic mouses
• Language: croatian
• URN:NBN: urn:nbn:hr:217:328432
• Study programme: Title: Experimental Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra eksperimentalne biologije (magistar/magistra eksperimentalne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access; Embargo expiration date: 2024-02-03
• Created on: 2022-02-09 09:02:52