Detection of heterozygosity rich regions in cattle genome

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.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