SLA class Ⅲ 영역의 Haplotype 특성과Linkage disequilibrium (LD) 분석
Haplotype characteristics and Linkage disequilibrium analysis of SLA class Ⅲ region
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초록
돼지는 경제적으로 중요한 동물이며, 장기 이식용 동물들 중 인간의 장기와 크기 및 구조가 유사한돼지에 대한 연구가 활발하게 이루어지고 있다. 그 중 Major Histocompatibility Complex(MHC)는 돼지에서 SLA(Swine Leukocyte Antigen)이라 불리어지며, 이종장기 이식시 면역거부 반응에 매우 중요한 역할을 한다. 본 연구는 돼지 SLA class Ⅲ 영역에 존재하는 다양한 SNP들의 haplotype을 추정하고, 이를 이용한 계통발생학적 분류와 LD block을 조사함으로써 SLA class Ⅲ 영역 내에 존재하는 많은 SNP들이 어떤 조합의 형태로 다음 세대로 전달되는 지를 규명하고자 실행하였다. SLA class Ⅲ 영역의 haplotype을 조사하기 위해 약 10 kb 간격으로 48개의 SNP들을 선발하였고, 8품종(총 111두)에서 111개의 haplotype을 확보하였다. Principal Component Analysis(PCA)를 수행한 결과 미니돼지는독립적인 group을 형성하였으며, Large White, Landrace, Berkshire가 하나의 group을 형성하였다. 또한 한국 재래돼지와 Duroc, 한국 야생멧돼지와 Tongcheng pig가 각각 group으로 형성되었다. SLAclass Ⅲ 영역에서 선발한 48개 SNP들의 LD를 추정한 결과 모든 품종에서 SNP들 사이의 LD block이형성되지 않았다. 이는 haplotype이 고정되어 지지 않는 이유와 마찬가지로, SLA class Ⅲ 영역에 존재하는 SNP들이 면역 또는 질병과 연관되어 있어 같은 품종 내 에서도 다형성을 보이는 것으로 사료된다.
Abstract
Pigs are an economically important animal species. It is also a valuable model for organtransplantation research, because pigs are similar in size and structure to those of humans. TheMajor Histocompatibility Complex(MHC), which is known as Swine Leukocyte Antigen(SLA) inpigs, plays an important role in the immune rejection response following heterogeneous organtransplantation. The aim of this study was to identify haplotype of various SNPs in the SLA classⅢ region of pig, and to investigate which combinations are transferred to the next generation, and examining the phylogenetic classification and linkage disequilibrium(LD) blocks. Forty-eight SNPswith a 10 kb interval in the SLA class Ⅲ region were selected to construct 111 haplotypes fromeight pig breeds(a total of 111 pigs). The Principal Component Analysis(PCA) result showed thatminiature pigs constituted an independent group while Large White, Landrace, and Berkshire wereclassified into one group. The Korean native pigs and Duroc were classified into one group, asdid wild Korean wild boar and Tongcheng pigs. The result of LD estimation using 48 SNPsselected in the SLA class Ⅲ region showed that no breeds constructed an LD block of SNPs. Thereason is probably because the SNPs in the SLA class Ⅲ region are related to immunity anddiseases that show polymorphism within the allied breed; haplotype cannot be fixed.
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