Detekcija visoko heterozigotnih regija u genomu goveda

master's thesis

• Title (english): Detection of heterozygosity rich regions in cattle genome
• Author: Mario Mercvajler
• 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: 2017-09-29, Croatia
• Scientific / art field, discipline and subdiscipline: BIOTECHNICAL SCIENCES; Agronomy

Abstract

U posljednje vrijeme velik interes znanstvenika izazivaju “Runs of
Homozygosity” (ROH) segmenti - kontinuirani dijelovi DNA nukleotidnog slijeda bez
heterozigotnosti u diploidnom obliku. Nastaju kao posljedica uzgoja u srodstvu koji
vodi do inbriding depresije, odnosno negativno utječe na “fitness” i proizvodna
svojstva. Suprotno pojavi ROH-ova, u genomu se mogu naći „Heterozygosity rich
regions“ (HRR) regije s visokim postotkom heterozigotnosti. Na uzorku od 120
Pinzgauer bikova genotipiziranih HD SNP čipom detektirano je 147126 HRR. Prosječna
pokrivenost genoma HRR-ovima iznosila je 0,99% (0,57-1,13%). Detektirana su i 92
česta HRR-a (proporcija veća od 0,25) gdje je nađen ukupno 91 gen (78 s opisanom
funkcijom). Funkcije nađenih gena su važne za biološke procese i pojave bolesti te
imaju utjecaj na “fitness” jedinke. Ovo istraživanje, za razliku od prijašnjih istraživanja,
preciznije detektira same HRR-ove i zasigurno će bit polazna točka za buduća
istraživanja u ovom području.

Abstract (english)

Recently, scientists have been greatly interested in Runs of Homozygosity (ROH)
segments - continuous parts of the DNA nucleotide sequence without heterozygosity
in diploid state. They arise as a result of inbreeding that leads to inbreeding
depression, ie negatively affecting the "fitness" and production properties. Contrary to
the appearance of ROH, regions with a high percentage of heterozygosity can also be
found in the genome - Heterozygosity Rich Regions (HRR). On the sample of 120
Pinzgauer bulls genotyped with HD SNP chip 147126 HRR were detected. The HRR
average genome coverage was 0.99% (0.57-1.13%). 92 common HRR (proportion
greater than 0.25) were detected, where a total of 91 genes (78 with the described
function) were found. The functions of the discovered genes are important for
biological processes and the occurrence of the disease and have an effect on the
"fitness" of the individual. This research, unlike previous ones, detects HRRs more
precisely and will certainly be the starting point for future research in this area.

• Keywords: “Heterozygosity rich regions ”; “Copy number variation”; SNP podaci; govedo
• Keywords (english): „Heterozygosity rich regions“; Copy number variation; SNP data; cattle
• Language: croatian
• URN:NBN: urn:nbn:hr:204:298634
• 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: 2017-12-01 13:41:24