Department of Biomedical Science and Engineering, Konkuk University, Seoul, 05029, Republic of Korea.
Division of Biomedical Engineering, Hankuk University of Foreign Studies, Yongin, Gyeonggi-Do, 17035, Republic of Korea.
BMC Genomics. 2024 Aug 6;25(1):761. doi: 10.1186/s12864-024-10677-5.
Currently, diverse minipigs have acquired a common dwarfism phenotype through independent artificial selections. Characterizing the population and genetic diversity in minipigs is important to unveil genetic mechanisms regulating their body sizes and effects of independent artificial selections on those genetic mechanisms. However, full understanding for the genetic mechanisms and phenotypic consequences in minipigs still lag behind.
Here, using whole genome sequencing data of 41 pig breeds, including eight minipigs, we identified a large genomic diversity in a minipig population compared to other pig populations in terms of population structure, demographic signatures, and selective signatures. Selective signatures reveal diverse biological mechanisms related to body size in minipigs. We also found evidence for neural development mechanism as a minipig-specific body size regulator. Interestingly, selection signatures within those mechanisms containing neural development are also highly different among minipig breeds. Despite those large genetic variances, PLAG1, CHM, and ESR1 are candidate key genes regulating body size which experience different differentiation directions in different pig populations.
These findings present large variances of genetic structures, demographic signatures, and selective signatures in the minipig population. They also highlight how different artificial selections with large genomic diversity have shaped the convergent dwarfism.
目前，通过独立的人工选择，不同的小型猪已经获得了共同的矮小表型。对小型猪的群体和遗传多样性进行特征描述，对于揭示调节其体型的遗传机制以及独立人工选择对这些遗传机制的影响非常重要。然而，对于小型猪的遗传机制和表型后果的全面理解仍然滞后。
在这里，我们使用了包括 8 种小型猪在内的 41 个猪品种的全基因组测序数据，发现小型猪群体在群体结构、人口统计学特征和选择性特征方面与其他猪群体相比具有较大的基因组多样性。选择性特征揭示了小型猪中与体型相关的多种生物学机制。我们还发现了神经发育机制是小型猪特有的体型调节机制的证据。有趣的是，这些机制中包含神经发育的选择特征在不同的小型猪品种之间也存在很大的差异。尽管存在这些较大的遗传差异，但调节体型的候选关键基因 PLAG1、CHM 和 ESR1 在不同的猪群体中经历了不同的分化方向。
这些发现表明小型猪群体的遗传结构、人口统计学特征和选择性特征存在较大差异。它们还突出了具有较大基因组多样性的不同人工选择如何塑造了趋同的矮小。
