Two Retrotransposon Elements in Intron of Porcine BMPR1B Is Associated with Phenotypic Variation.
Two Retrotransposon Elements in Intron of Porcine BMPR1B Is Associated with Phenotypic Variation.
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猪BMPR1B内含子中的两个反转录转座子元件与表型变异相关
DOI：
10.3390/life12101650
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发表时间：
2022-10-20
期刊：
影响因子：
3.2
通讯作者：
Wang, Xiaoyan
中科院分区：
文献类型：
--
作者：
Chi, Chenglin;He, Jia;Du, Zhanyu;Zheng, Yao;D'Alessandro, Enrico;Chen, Cai;Moawad, Ali Shoaib;Asare, Emmanuel;Song, Chengyi;Wang, Xiaoyan
骨形态发生蛋白受体I B（BMPR 1 B）通过与骨形态发生蛋白（BMPs）结合，介导转化生长因子β（TGF-β）信号转导，参与调控骨、肌肉的形成和稳态，以及卵泡的形成等生物学过程。BMPR 1B也被称为FecB，已被报道为绵羊多胎性的主效基因。以前的一些研究分析了该基因的单核苷酸多态性（SNPs）与其相关性能之间的关系。近年来，随着反转录转座子插入对近端基因表达或表型变异影响的阐明，反转录转座子插入多态性（RIPs）已作为一种新型的分子标记应用于动植物的进化、种群结构和育种等方面。本研究对猪BMPR 1B基因中的RIP进行了挖掘，并利用比较基因组和聚合酶链反应（PCR）进行了验证。并探讨了RIP相关的表型、基因表达和功能的潜在影响。结果表明，在猪BMPR 1B基因内含子中发现了13个不同的RIP。其中，只有BMPR 1B-SINE-RIP 9和BMPR 1B-LINE-RIP 13与大白色猪的生长性状关系密切。此外，发现BMPR 1B-SINE +/+-RIP 9个体的出生总数显著高于SINE-/-个体（p < 0.05）。这两个品种在中国地方猪种和西方商品猪种中具有明显的分布格局。成年BMPR 1B-SINE +/+-RIP 9苏山猪卵巢中BMPR 1B的表达量显著高于BMPR 1B-SINE −/−-RIP 9（p < 0.05）。观察到BMPR 1B-SINE-RIP 9的SINE插入和BMPR 1B-LINE-RIP 13的LINE插入显著增加CHO和C2 C12细胞中八聚体结合转录因子4（OCT 4）微型启动子的活性（p < 0.01）。因此，这两个RIPs可作为调控生长或繁殖性状的分子标记用于猪的辅助选择，但其作用机制有待进一步研究。
It has been established that through binding to bone morphogenetic proteins (BMPs), bone morphogenetic protein receptor I B (BMPR1B) can mediate transforming growth factor β (TGF-β) signal transduction, and is involved in the regulation of several biological processes, such as bone and muscle formation and homeostasis, as well as folliculogenesis. Also known as FecB, BMPR1B has been reported as the major gene for sheep prolificacy. A number of previous studies have analyzed the relationship between single nucleotide polymorphisms (SNPs) in this gene and its related performance. In recent years, with the illustration of the effect of retrotransposon insertion on the expression of the proximal genes or phenotypic variation, retrotransposon insertion polymorphisms (RIPs) have been used as a novel type of molecular marker in the evaluation of evolution, population structure and breeding of plant and domestic animals. In this study, the RIPs in porcine BMPR1B gene were excavated, and thereafter verified using a comparative genome and polymerase chain reaction (PCR). The potential effects of phenotype, gene expression and functions related to RIPs were also explored. The results showed that 13 distinct RIPs were identified in introns of porcine BMPR1B. Among these, only BMPR1B-SINE-RIP9 and BMPR1B-LINE-RIP13 displayed a close relationship with the growth traits of Large White pigs. Moreover, the total number of BMPR1B-SINE+/+-RIP9 individuals born was found to be significantly higher than that of SINE−/− (p < 0.05). These two RIPs showed an obvious distribution pattern among Chinese indigenous breeds and Western commercial breeds. The expression of BMPR1B in ovaries of adult BMPR1B-SINE+/+-RIP9 Sushan pigs was found to be significantly higher in comparison to those of BMPR1B-SINE−/−-RIP9 (p < 0.05). SINE insertion of BMPR1B-SINE-RIP9 and LINE insertion of BMPR1B-LINE-RIP13 were observed to significantly increase the activity of Octamer binding transcription factor 4 (OCT4) minipromoter in CHO and C2C12 cells (p < 0.01). Therefore, these two RIPs could serve as useful molecular markers for modulating the growth or reproductive traits in assisted selection of pig breeding, while the mechanisms of the insertion function should be studied further.
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