Whole-genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in Chinese indigenous pigs

Abstract Background The genetic basis of the phenotypic diversity of pigs is regulated by variants across the genome, especially the trait of early puberty, which is a crucial trait for enhancing the reproductive ability of pigs and the economy of the pig industry. However, the genetic basis of the...

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Main Authors: Minghao Cao, Tiantian Yuan, Dong Li, Yulong Wang, Lin Zhang, Jingchun Sun, Guangquan Lv, Rongrong Ding, Taiyong Yu
Format: Article
Language:deu
Published: BMC 2025-06-01
Series:Genetics Selection Evolution
Online Access:https://doi.org/10.1186/s12711-025-00975-1
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author Minghao Cao
Tiantian Yuan
Dong Li
Yulong Wang
Lin Zhang
Jingchun Sun
Guangquan Lv
Rongrong Ding
Taiyong Yu
author_facet Minghao Cao
Tiantian Yuan
Dong Li
Yulong Wang
Lin Zhang
Jingchun Sun
Guangquan Lv
Rongrong Ding
Taiyong Yu
author_sort Minghao Cao
collection DOAJ
description Abstract Background The genetic basis of the phenotypic diversity of pigs is regulated by variants across the genome, especially the trait of early puberty, which is a crucial trait for enhancing the reproductive ability of pigs and the economy of the pig industry. However, the genetic basis of the early puberty trait in pigs remains largely unknown. Results Here, we report a comprehensive genomic variation map for pigs based on the resequencing of 493 accessions representing 59 different pig breeds or populations, which included 5,211,469 single-nucleotide polymorphisms (SNPs) and 487,725 small insertion/deletion structure variants (InDels). This sets included 45,640 high-quality structural variants (SVs). Our results suggested that Hanjiang black (HJB) pigs cluster with Jianghai-type pigs at the genetic level and that the genome characteristics of some HJB individuals exhibit a certain degree of European pig features. Using introgression and signature selection analysis, we identified several candidate genes associated with bone development and early puberty traits, such as TBX5, PAPPA2, IGFBP3, and MKRN3. Additionally, the GWAS and differential expression analysis results suggested that the PAPPA2 gene is associated with early puberty in pigs. Conclusions This study revealed that past introgression events could impact the agronomical traits of pigs and contribute raw material of genetics and breeding in pig. Moreover, our results suggest that the PAPPA2 gene is a candidate gene associated with early sexual maturity in pigs and the genomic analysis provided important reference value for studying economic traits for pigs.
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issn 1297-9686
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publishDate 2025-06-01
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series Genetics Selection Evolution
spelling doaj-art-d67861d95d4a4e5289488b5b905a19c72025-08-20T02:40:14ZdeuBMCGenetics Selection Evolution1297-96862025-06-0157111610.1186/s12711-025-00975-1Whole-genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in Chinese indigenous pigsMinghao Cao0Tiantian Yuan1Dong Li2Yulong Wang3Lin Zhang4Jingchun Sun5Guangquan Lv6Rongrong Ding7Taiyong Yu8Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Laboratory of Animal Fat Deposition and Muscle Development, College of Animal Science and Technology, Northwest A&F UniversityKey Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Laboratory of Animal Fat Deposition and Muscle Development, College of Animal Science and Technology, Northwest A&F UniversityKey Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Laboratory of Animal Fat Deposition and Muscle Development, College of Animal Science and Technology, Northwest A&F UniversityKey Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Laboratory of Animal Fat Deposition and Muscle Development, College of Animal Science and Technology, Northwest A&F UniversityKey Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Laboratory of Animal Fat Deposition and Muscle Development, College of Animal Science and Technology, Northwest A&F UniversityKey Laboratory of Agroecological Processes in Subtropical Region, Institute of Subtropical Agriculture, Chinese Academy of SciencesKey Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Laboratory of Animal Fat Deposition and Muscle Development, College of Animal Science and Technology, Northwest A&F UniversityKey Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Laboratory of Animal Fat Deposition and Muscle Development, College of Animal Science and Technology, Northwest A&F UniversityKey Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Laboratory of Animal Fat Deposition and Muscle Development, College of Animal Science and Technology, Northwest A&F UniversityAbstract Background The genetic basis of the phenotypic diversity of pigs is regulated by variants across the genome, especially the trait of early puberty, which is a crucial trait for enhancing the reproductive ability of pigs and the economy of the pig industry. However, the genetic basis of the early puberty trait in pigs remains largely unknown. Results Here, we report a comprehensive genomic variation map for pigs based on the resequencing of 493 accessions representing 59 different pig breeds or populations, which included 5,211,469 single-nucleotide polymorphisms (SNPs) and 487,725 small insertion/deletion structure variants (InDels). This sets included 45,640 high-quality structural variants (SVs). Our results suggested that Hanjiang black (HJB) pigs cluster with Jianghai-type pigs at the genetic level and that the genome characteristics of some HJB individuals exhibit a certain degree of European pig features. Using introgression and signature selection analysis, we identified several candidate genes associated with bone development and early puberty traits, such as TBX5, PAPPA2, IGFBP3, and MKRN3. Additionally, the GWAS and differential expression analysis results suggested that the PAPPA2 gene is associated with early puberty in pigs. Conclusions This study revealed that past introgression events could impact the agronomical traits of pigs and contribute raw material of genetics and breeding in pig. Moreover, our results suggest that the PAPPA2 gene is a candidate gene associated with early sexual maturity in pigs and the genomic analysis provided important reference value for studying economic traits for pigs.https://doi.org/10.1186/s12711-025-00975-1
spellingShingle Minghao Cao
Tiantian Yuan
Dong Li
Yulong Wang
Lin Zhang
Jingchun Sun
Guangquan Lv
Rongrong Ding
Taiyong Yu
Whole-genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in Chinese indigenous pigs
Genetics Selection Evolution
title Whole-genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in Chinese indigenous pigs
title_full Whole-genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in Chinese indigenous pigs
title_fullStr Whole-genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in Chinese indigenous pigs
title_full_unstemmed Whole-genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in Chinese indigenous pigs
title_short Whole-genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in Chinese indigenous pigs
title_sort whole genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in chinese indigenous pigs
url https://doi.org/10.1186/s12711-025-00975-1
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