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Detection of Novel Genetic Variations of the MG1R * 3 Allele in Pig(Sus scrofa)

돼지 Melanocortin Receptor 1(MC1R) 대립유전자 3의 신규 유전변이 탐색

  • Cho, I.C. (National Jeju Agricultural Experiment Station, R.D.A) ;
  • Jeong, Y.H. (National Jeju Agricultural Experiment Station, R.D.A) ;
  • Jung, J.K. (National Jeju Agricultural Experiment Station, R.D.A) ;
  • Seong, P.N. (National Jeju Agricultural Experiment Station, R.D.A) ;
  • Oh, W.Y. (National Jeju Agricultural Experiment Station, R.D.A) ;
  • Ko, M.S. (National Jeju Agricultural Experiment Station, R.D.A) ;
  • Kim, B.W. (Division of Applied Life Science, Gyeongsang National University) ;
  • Lee, J.G. (Division of Applied Life Science, Gyeongsang National University) ;
  • Jeon, J.T. (Division of Applied Life Science, Gyeongsang National University)
  • 조인철 (농업진흥청 제주농업시험장) ;
  • 정용환 (농업진흥청 제주농업시험장) ;
  • 정진관 (농업진흥청 제주농업시험장) ;
  • 성필남 (농업진흥청 제주농업시험장) ;
  • 오운용 (농업진흥청 제주농업시험장) ;
  • 고문석 (농업진흥청 제주농업시험장) ;
  • 김병우 (경상대학교 응용생명과학부) ;
  • 이정규 (경상대학교 응용생명과학부) ;
  • 전진태 (경상대학교 응용생명과학부)
  • Published : 2004.02.29

Abstract

This study was conducted to investigate novel genetic variations of MCIR^*3 allele. In general, white spotting or white belt on a black backgroud in pigs is determined by the E$^p$ allele at the MCIR/Extention locus. E$^p$ shares a frameshift mutation with the E$^{D2}$ allele for dominant black color. An oligonucleotide primer set was designed to amplify complete coding sequence of the porcine MCIR gene. The MCIR coding sequences obtained from five breeds those were Landrace(white). Yorkshire(white), Hampshire(belt), Berkshire(spot) and Jeju native black pigs(black), were used for this study. A multiple sequence alignment of the MCIR coding region using Clustal W was performed. The total length of the MCIR coding sequence ranged from 963 to 966 base pairs(bp) among the selected breeds. The sequence analysis of the complete coding region of MCIR was revealed that Hampshire and Jeju native black pig have 3 cytosines deletion and Birkshire has 2 cytosines deletion at codon 23(nt68) in Extention loci. Besides the finding, there were three different missense mutations and a frameshift mutation in the MCIR coding region.

본 연구는 MCIR$^*$3 allele의 돼지에 있어서 유전적 변이를 관찰하기 위하여 수행하였다. 일반적으로 흑모색 바탕에 백색반점이나 백색띠를 갖고 있는 돼지의 MCIR 유전자의 유전자형은 E$^{D2}$로 나타낸다. 우성 백색계통의 E$^P$ 유전자형은 우성 흑모색 계통의 E$^{D2}$ 유전자와 frameshift mutation 관계가 있다. 돼지 MCIR 전체 번역지역을 증폭하기 위하여 oligonucleotide primer률 제작하여 PCR을 수행 하였다. 그 결과 길이가 963${\sim}$966 base pairs인 돼지 MCIR 유전자의 전체번역지역을 포함하는 산물을 얻었다. 이들 번역부위의 염기서열 결정하고 이들을 Clusta1 W 프로그램을 이용하여 정렬한 결과 23번 코돈{nt68)에서 Hampshire와 제주 재래혹돈은 염기 시토신(cytosine)이 3 개 그리고 Birl‘shire의 경우 염기 시토신(cytosine)이 2개 결실되어 있었다. 그 외에 3개의 missense mutations과 하나의 frameshift mutation이 발견되었다.

Keywords

References

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