Two Retrotransposon Elements in Intron of Porcine <i>BMPR1B</i> Is Associated with Phenotypic Variation

It has been established that through binding to bone morphogenetic proteins (<i>BMPs</i>), bone morphogenetic protein receptor I B (<i>BMPR1B</i>) can mediate transforming growth factor β (TGF-β) signal transduction, and is involved in the regulation of several biological pro...

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Main Authors: Chenglin Chi, Jia He, Zhanyu Du, Yao Zheng, Enrico D’Alessandro, Cai Chen, Ali Shoaib Moawad, Emmanuel Asare, Chengyi Song, Xiaoyan Wang
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Life
Subjects:
Online Access:https://www.mdpi.com/2075-1729/12/10/1650
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author Chenglin Chi
Jia He
Zhanyu Du
Yao Zheng
Enrico D’Alessandro
Cai Chen
Ali Shoaib Moawad
Emmanuel Asare
Chengyi Song
Xiaoyan Wang
author_facet Chenglin Chi
Jia He
Zhanyu Du
Yao Zheng
Enrico D’Alessandro
Cai Chen
Ali Shoaib Moawad
Emmanuel Asare
Chengyi Song
Xiaoyan Wang
author_sort Chenglin Chi
collection DOAJ
description It has been established that through binding to bone morphogenetic proteins (<i>BMPs</i>), bone morphogenetic protein receptor I B (<i>BMPR1B</i>) 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, <i>BMPR1B</i> 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 <i>BMPR1B</i> 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 <i>BMPR1B</i>. Among these, only <i>BMPR1B</i>-SINE-RIP9 and <i>BMPR1B</i>-LINE-RIP13 displayed a close relationship with the growth traits of Large White pigs. Moreover, the total number of <i>BMPR1B</i>-SINE<sup>+/+</sup>-RIP9 individuals born was found to be significantly higher than that of SINE<sup>−/−</sup> (<i>p</i> < 0.05). These two RIPs showed an obvious distribution pattern among Chinese indigenous breeds and Western commercial breeds. The expression of <i>BMPR1B</i> in ovaries of adult <i>BMPR1B</i>-SINE<sup>+/+</sup>-RIP9 Sushan pigs was found to be significantly higher in comparison to those of <i>BMPR1B</i>-SINE<sup>−/−</sup>-RIP9 (<i>p</i> < 0.05). SINE insertion of <i>BMPR1B</i>-SINE-RIP9 and LINE insertion of <i>BMPR1B</i>-LINE-RIP13 were observed to significantly increase the activity of Octamer binding transcription factor 4 (OCT4) minipromoter in CHO and C2C12 cells (<i>p</i> < 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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spelling doaj.art-1d6e30f8d4964409b30655f3ad08984e2023-11-24T00:57:53ZengMDPI AGLife2075-17292022-10-011210165010.3390/life12101650Two Retrotransposon Elements in Intron of Porcine <i>BMPR1B</i> Is Associated with Phenotypic VariationChenglin Chi0Jia He1Zhanyu Du2Yao Zheng3Enrico D’Alessandro4Cai Chen5Ali Shoaib Moawad6Emmanuel Asare7Chengyi Song8Xiaoyan Wang9College of Animal Science & Technology, Yangzhou University, Yangzhou 225009, ChinaCollege of Animal Science & Technology, Yangzhou University, Yangzhou 225009, ChinaCollege of Animal Science & Technology, Yangzhou University, Yangzhou 225009, ChinaCollege of Animal Science & Technology, Yangzhou University, Yangzhou 225009, ChinaDepartment of Veterinary Science, Division of Animal Production, University of Messina, 98168 Messina, ItalyCollege of Animal Science & Technology, Yangzhou University, Yangzhou 225009, ChinaCollege of Animal Science & Technology, Yangzhou University, Yangzhou 225009, ChinaCollege of Animal Science & Technology, Yangzhou University, Yangzhou 225009, ChinaCollege of Animal Science & Technology, Yangzhou University, Yangzhou 225009, ChinaCollege of Animal Science & Technology, Yangzhou University, Yangzhou 225009, ChinaIt has been established that through binding to bone morphogenetic proteins (<i>BMPs</i>), bone morphogenetic protein receptor I B (<i>BMPR1B</i>) 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, <i>BMPR1B</i> 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 <i>BMPR1B</i> 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 <i>BMPR1B</i>. Among these, only <i>BMPR1B</i>-SINE-RIP9 and <i>BMPR1B</i>-LINE-RIP13 displayed a close relationship with the growth traits of Large White pigs. Moreover, the total number of <i>BMPR1B</i>-SINE<sup>+/+</sup>-RIP9 individuals born was found to be significantly higher than that of SINE<sup>−/−</sup> (<i>p</i> < 0.05). These two RIPs showed an obvious distribution pattern among Chinese indigenous breeds and Western commercial breeds. The expression of <i>BMPR1B</i> in ovaries of adult <i>BMPR1B</i>-SINE<sup>+/+</sup>-RIP9 Sushan pigs was found to be significantly higher in comparison to those of <i>BMPR1B</i>-SINE<sup>−/−</sup>-RIP9 (<i>p</i> < 0.05). SINE insertion of <i>BMPR1B</i>-SINE-RIP9 and LINE insertion of <i>BMPR1B</i>-LINE-RIP13 were observed to significantly increase the activity of Octamer binding transcription factor 4 (OCT4) minipromoter in CHO and C2C12 cells (<i>p</i> < 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.https://www.mdpi.com/2075-1729/12/10/1650pigRIPs<i>BMPR1B</i>phenotyperepressor
spellingShingle Chenglin Chi
Jia He
Zhanyu Du
Yao Zheng
Enrico D’Alessandro
Cai Chen
Ali Shoaib Moawad
Emmanuel Asare
Chengyi Song
Xiaoyan Wang
Two Retrotransposon Elements in Intron of Porcine <i>BMPR1B</i> Is Associated with Phenotypic Variation
Life
pig
RIPs
<i>BMPR1B</i>
phenotype
repressor
title Two Retrotransposon Elements in Intron of Porcine <i>BMPR1B</i> Is Associated with Phenotypic Variation
title_full Two Retrotransposon Elements in Intron of Porcine <i>BMPR1B</i> Is Associated with Phenotypic Variation
title_fullStr Two Retrotransposon Elements in Intron of Porcine <i>BMPR1B</i> Is Associated with Phenotypic Variation
title_full_unstemmed Two Retrotransposon Elements in Intron of Porcine <i>BMPR1B</i> Is Associated with Phenotypic Variation
title_short Two Retrotransposon Elements in Intron of Porcine <i>BMPR1B</i> Is Associated with Phenotypic Variation
title_sort two retrotransposon elements in intron of porcine i bmpr1b i is associated with phenotypic variation
topic pig
RIPs
<i>BMPR1B</i>
phenotype
repressor
url https://www.mdpi.com/2075-1729/12/10/1650
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