College of Animal Science and Technology, China Agricultural University, Beijing 100193, People's Republic of China.
College of Animal Sciences and Veterinary Medicine, Henan Agricultural University, Zhengzhou 450002, People's Republic of China.
Proc Biol Sci. 2017 Dec 20;284(1869). doi: 10.1098/rspb.2017.2437.
Changes in pig fertility have occurred as a result of domestication, but are not understood at the level of genetic variation. To identify variations potentially responsible for prolificacy, we sequenced the genomes of the highly prolific Taihu pig breed and four control breeds. Genes involved in embryogenesis and morphogenesis were targeted in the Taihu pig, consistent with the morphological differences observed between the Taihu pig and others during pregnancy. Additionally, excessive functional non-coding mutations have been specifically fixed or nearly fixed in the Taihu pig. We focused attention on an oestrogen response element (ERE) within the first intron of the bone morphogenetic protein receptor type-1B gene () that overlaps with a known quantitative trait locus (QTL) for pig fecundity. Using 242 pigs from 30 different breeds, we confirmed that the genotype of the ERE was nearly fixed in the Taihu pig. ERE function was assessed by luciferase assays, examination of histological sections, chromatin immunoprecipitation, quantitative polymerase chain reactions, and western blots. The results suggest that the ERE may control pig prolificacy via the cis-regulation of expression. This study provides new insight into changes in reproductive performance and highlights the role of non-coding mutations in generating phenotypic diversity between breeds.
猪繁殖性能的变化是由于驯化引起的，但在遗传变异水平上尚不清楚。为了鉴定可能与繁殖力有关的变异，我们对高度繁殖的太湖猪品种和四个对照品种进行了基因组测序。在太湖猪中，我们针对胚胎发生和形态发生相关的基因进行了靶向研究，这与妊娠期间太湖猪和其他品种之间观察到的形态差异一致。此外，过多的功能非编码突变已在太湖猪中特异性固定或几乎固定。我们关注了骨形态发生蛋白受体型 1B 基因（）第一个内含子内的雌激素反应元件（ERE），该元件与猪繁殖力的一个已知数量性状位点（QTL）重叠。利用来自 30 个不同品种的 242 头猪，我们证实了 ERE 在太湖猪中的基因型几乎固定。通过荧光素酶检测、组织学切片检查、染色质免疫沉淀、定量聚合酶链反应和 Western blot 分析评估了 ERE 的功能。结果表明，ERE 可能通过对表达的顺式调控来控制猪的繁殖力。本研究为生殖性能的变化提供了新的见解，并强调了非编码突变在产生品种间表型多样性中的作用。
