Journal of Animal Science and Technology

Korean Society of Animal Sciences and Technology (한국축산학회)
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A Missense Mutation in Exon 5 of the Bovine Growth Hormone Gene

소 성장호르몬 유전자의 Exon 5번에서의 새로운 다형성 연구

  • Yoon, D. H. (National Livestock Research Institute, R.D.A.) ;
  • Kim, T. H. (National Livestock Research Institute, R.D.A.) ;
  • Lee, K. H. (National Livestock Research Institute, R.D.A.) ;
  • Park, E. W. (National Livestock Research Institute, R.D.A.) ;
  • Lee, H. K. (Department of Genomic Engineering, Hankyoung National University) ;
  • Cheong, I. C. (National Livestock Research Institute, R.D.A.) ;
  • Hong, K. C. (Department of College of Life & Environmental Science)
  • 윤두학 (농촌진흥청 축산기술연구소) ;
  • 김태헌 (농촌진흥청 축산기술연구소) ;
  • 이경희 (농촌진흥청 축산기술연구소) ;
  • 박응우 (농촌진흥청 축산기술연구소) ;
  • 이학교 (한경대학교 생명공학과) ;
  • 정일정 (농촌진흥청 축산기술연구소) ;
  • 홍기창 (고려대학교 생명유전공학부)
  • Published : 2003.02.28
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Abstract

Growth Hormone (GH) gene is a member of gene family through the evolutionary process from a small common ancestral gene by a series of gene duplications. The role of the GH in growth and performance controls has been extensively studied in human, mice and livestock. Many researchers have considered GH as a strong candidate gene for evaluation of genetic polymorphisms that could be associated with economic traits in cattle. We report here a novel missense mutation within the exon 5 of the bovine Growth Hormone (bGH) gene. We could amplified 522 bp fragments from eight unrelated Hanwoo cattle by PCR, then, subsequently cloned and sequenced. An Msp I RFLP corresponding to a C to T transition was observed at position 2258 nt. From this result, we could predict a missense mutation (Arg to Trp) at codon 166 in a highly conserved region among many mammals. Codominant Mendelian segregation of the two alleles, Msp I (+) and Msp I (－), was observed in two full-sib F2 families (n = 32, African taurine Bos taurus ${\times}$ African zebu Bos indicus) and eight half-sib Hanwoo families. For the availability of genetic marker, we have performed PCR-RFLP with a large number of individual animals from 15 different cattle breeds (European and Asian taurines, and African indicines). Consideration of breed frequencies of Msp I (－) allele in relation to breed type and their geographic origins, shows higher frequencies in humped breeds or Asian cattle breeds than in humpless or European breeds. This result indicates that the missense mutation can be contributed the functional significance such as the signal transduction through the receptor binding, also may be used as a marker for selection of the economic traits in Hanwoo.

성장호르몬 유전자는 하나의 작은 공통 선조 유전자로부터 아주 오랜 기간동안 유전자 중복에 의해 진화되어 온 그룹들 중의 하나이다. 이들에 속하는 유전자들은 동물 종간에 구조적인 상동성과 기능적 공통성 등 유사성이 비교적 높게 나타난다. 이런 연구결과들을 근거로 하여 소 성장호르몬 유전자에서 아미노산을 암호화하는 영역으로부터 새로운 아미노산의 변이(missense mutation)를 검출하였고, 이 변이의 대립유전자 빈도는 소(cattle)의 종(species) 및 품종의 지리적 분포에 따라 일정한 경향 치를 보여 주었다. 한편 변경되어진 아미노산은 Tryptophan으로 이는 생물체에 존재하는 많은 단백질들을 구성하는 아미노산중에서도 그 출현빈도가 가장 낮은 것이다. 또한 검출된 변이는 성장호르몬이 그의 수용체와 강하게 결합하는 부위로서, 성장호르몬의 구조적 변이를 초래하여 수용체와의 결합이 비정상적으로 이루어져, 이후 성장호르몬이 표적세포로의 신호전달과 같은 역할을 제대로 수행치 못하게 되고, 이로 인하여 가축의 표현되어지는 경제형질에 영향을 미칠 것으로 추정된다. 그러므로 이러한 대립유전자를 보유하는 개체는 집단에서 제거하는 방법에 의한 개량이 가능할 것으로 사료된다.

Keywords

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