돼지 Melanocortin Receptor 1(MC1R) 대립유전자 3의 신규 유전변이 탐색
Detection of Novel Genetic Variations of the MCIR *3 Allele in Pig (Sus scrofa)
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참고문헌
초록
본 연구는 MC1R*3 allele의 돼지에 있어서 유전적 변이를 관찰하기 위하여 수행하였다. 일반적으로 흑모색 바탕에 백색반점이나 백색띠를 갖고 있는 돼지의 MC1R 유전자의 유전자형은 ED2 로 나타낸다. 우성 백색계통의 EP 유전자형은 우성 흑모색 계통의 ED2 유전자와 frameshift mutation 관계가 있다. 돼지 MC1R 전체 번역지역을 증폭하기 위하여 oligonucleotide primer를 제작하여 PCR을 수행 하였다. 그 결과 길이가 963～966 base pairs인 돼지 MC1R 유전자의 전체번역지역을 포함하는 산물을 얻었다. 이들 번역부위의 염기서열 결정하고 이들을 Clustal W 프로그램을 이용하여 정렬한 결과 23번 코돈 (nt68)에서 Hampshire와 제주 재래흑돈은 염기 시토신 (cytosine)이 3개 그리고 Birkshire의 경우 염기 시토신(cytosine)이 2개 결실되어 있었다. 그 외에 3개의 missense mutations과 하나의 frameshift mutation이 발견되었다.
Abstract
This study was conducted to investigate novel genetic variations of MC1R*3 allele. In general, white spotting or white belt on a black backgroud in pigs is determined by the EP allele at the MC1R/Extention locus. EP shares a frameshift mutation with the ED2 allele for dominant black color. An oligonucleotide primer set was designed to amplify complete coding sequence of the porcine MC1R gene. The MC1R 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 MC1R coding region using Clustal W was performed. The total length of the MC1R coding sequence ranged from 963 to 966 base pairs (bp) among the selected breeds. The sequence analysis of the complete coding region of MC1R 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 MC1R coding region.
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