Journal of the Korean Data and Information Science Society

The Korean Data and Information Science Society (한국데이터정보과학회)
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Validation of diacylglycerol O-acyltransferase1 gene effect on milk yield using Bayesian regression

베이지안 회귀를 이용한 국내 홀스타인 젖소의 유량형질 관련 DGAT1유전자 효과 검증

  • 조광현 (농촌진흥청 국립축산과학원) ;
  • 조충일 (농촌진흥청 국립축산과학원) ;
  • 박경도 (한경대학교 유전정보연구소) ;
  • 이준호 (한경대학교 유전정보연구소)
  • Received : 2015.07.20
  • Accepted : 2015.11.24
  • Published : 2015.11.30
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Abstract

DGAT1(diacylglycerol O-acyltransferase1) gene is well known as a major gene of milk production in dairy cattle. This study was conducted to investigate how the DGAT1 gene effect on milk yield was appeared from the genome wide association (GWA) using high density whole genome SNP chip. The data set used in this study consisted of 353 Korean Holstein sires with 50k SNP genotypes and deregressed estimated breeding values of milk yield. After quality control 41,051 SNPs were selected and locations on chromosome were mapped using UMD 3.1. Bayesian regression of BayesB method (pi=0.99) was used to estimate the SNP effects and genomic breeding values. Percentages of variance explained by 1 Mb non-overlapping windows were calculated to detect the QTL region. As the result of this study, top 1 and 3 of 2,516 windows were seen around DGAT1 gene region and 0.51% and 0.48% of genetic variance were explained by these two windows. Although SNPs on the DGAT1 gene region are excluded in commercial 50k SNP chip, the effect of DGAT1 gene seem to be reflected on GWA by the SNPs which are in linkage disequilibrium with DGAT1 gene.

젖소의 유생산 형질에 가장 큰 영향을 미치는 유전자들 중 하나로 알려진 DGAT1 유전자의 효과를 국내 젖소 종축의 고밀도 유전체 정보를 이용하여 검증하기 위하여 본 연구를 수행하였다. 국내 젖소 씨수소로 구성된 353두의 고밀도 유전체 정보, 혈통, 추정 육종가 및 신뢰도 정보를 수집하였으며, 단일염기다형성 효과를 추정하기 위한 종속변량으로 가장 정확한 유전체 육종가를 예측할 수 있는 DeRegressed EBV를 산출하여 분석에 이용하였다. BovineSNP50 v2 패널을 이용하여 구명한 고밀도 유전자형 정보 중 유효성검증 과정을 통하여 41,051개 SNP을 선정하였으며, 각 단일 염기다형성의 실제적 유전체 육종가 기여도를 확인하기 위하여 유전체 선발방법 중 하나인 베이즈B (pi=0.99) 방법을 이용하여 SNP 효과를 추정하였다. 1메가 베이스페어의 구간으로 구성된 유전체 전장의 2,516개 윈도우 별 유전분산 설명력을 계산한 결과 상위 1, 3 윈도우가 DGAT1유전자 주변에서 발견되었으며, 이 두 윈도우의 유전분산 설명력은 각각 0.51% 및 0.48%인 것으로 나타났다. DGAT1유전자는 유전체 선발에 상업적으로 이용되는 50k SNP chip에 포함되어있지 않기 때문에 직접적인 유전자의 효과가 명확하게 드러나지는 않지만 DGAT1 유전자에 인접한 단일염기다형성들간의 연관불평형에 의하여 주변 윈도우에서 가장 높은 유전분산 설명력을 보이는 것으로 사료된다.

Keywords

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