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全基因组关联分析突出了与杂交后备母猪发情期缺失潜在相关的基因组区域和基因。

Genome-wide association analysis highlights genomic regions and genes potentially associated with anestrus in crossbred gilts.

作者信息

Quirino Monike Willemin, Hebbel Cleverson, Ibelli Adriana Mércia Guaratini, Ledur Mônica Corrêa, Cantão Maurício Egídio, de Oliveira Peixoto Jane, Mores Marcos Antonio Zanella, Baldessar Pricila, Ono Rafael Keith, Marques Mariana Groke, Peripolli Vanessa, Ulguim Rafael da Rosa, Gasperin Bernardo Garziera, Bianchi Ivan

机构信息

Programa de Pós-Graduação em Produção e Sanidade Animal (PGPSA), Instituto Federal Catarinense (IFC), Araquari, SC, 89245-000, Brazil.

Pamplona Alimentos S.A., Rio do Sul, SC, 89164-900, Brazil.

出版信息

Mamm Genome. 2025 Sep 11. doi: 10.1007/s00335-025-10159-3.

Abstract

Anestrus, an infertility condition that affects several animal' species, is characterized by failing to display estrus. In pig production, it leads to the culling of 5 to 15% of the replacement gilts, resulting in significant losses impairing the swine female longevity. Despite that, little is known about the genetic mechanisms involved with anestrus in pigs. Hence, this study evaluated cyclic and non-cyclic F1 Landrace × Large White gilts to identify genomic regions associated with failure to display pubertal estrus through a genome-wide association study (GWAS), highlighting possible candidate genes involved with this condition in swine. Tissue samples were collected at 219.8 ± 4.7 days of age and genotyped with the PorcineSNP50 BeadChip from Illumina. In the GWAS, a SNP in the EML4 gene located on chromosome 3 (SSC3) was moderately associated with anestrus. The other 14 SNPs suggestively associated with anestrus were identified on SSCs 1, 3, 6, 7, 9 and 15. Investigating the regions close to those SNPs, new candidate genes for anestrus occurrence, such as EML4, DST, SRTB, MEAF, PHF1, PPMIB and PREPL, including 11 lncRNAs and a snoRNA were identified. Therefore, our study highlighted novel genetic mechanisms involved with the failure to display pubertal estrus in pigs, contributing to unraveling the genetic architecture of anestrus in pigs and other species. The use of genomic methodologies is a promising tool to help the early identification of gilts with potential reproductive problems associated with anestrus.

摘要

乏情是一种影响多种动物物种的不育状况,其特征是不表现发情。在养猪生产中,它导致5%至15%的后备母猪被淘汰,造成重大损失,影响母猪的使用寿命。尽管如此,关于猪乏情的遗传机制却知之甚少。因此,本研究评估了周期性和非周期性的F1长白×大白后备母猪,通过全基因组关联研究(GWAS)来确定与青春期发情失败相关的基因组区域,突出了猪中与这种状况有关的可能候选基因。在219.8±4.7日龄时采集组织样本,并用Illumina公司的PorcineSNP50 BeadChip进行基因分型。在GWAS中,位于3号染色体(SSC3)上的EML4基因中的一个单核苷酸多态性(SNP)与乏情呈中度相关。在SSC1、3、6、7、9和15上还鉴定出另外14个与乏情有暗示性关联的SNP。通过研究这些SNP附近的区域,确定了与乏情发生相关的新候选基因,如EML4、DST、SRTB、MEAF、PHF1、PPMIB和PREPL,包括11个长链非编码RNA(lncRNA)和一个小核仁RNA(snoRNA)。因此,我们的研究突出了与猪青春期发情失败相关的新遗传机制,有助于揭示猪和其他物种乏情的遗传结构。使用基因组方法是一种很有前景的工具,有助于早期识别与乏情相关的潜在繁殖问题的后备母猪。

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