Lakhssassi Kenza, Serrano Malena, Lahoz Belén, Sarto María Pilar, Iguácel Laura Pilar, Folch José, Alabart José Luis, Calvo Jorge Hugo
Centro de Investigación y Tecnología Agroalimentaria de Aragón, Instituto Agroalimentario de Aragón (IA2), CITA-Zaragoza University, 50059 Zaragoza, Spain.
Departamento de Mejora Genética Animal INIA, 28040 Madrid, Spain.
Animals (Basel). 2020 Dec 21;10(12):2448. doi: 10.3390/ani10122448.
The aim of this study was to characterize and identify causative polymorphisms in the () gene responsible for the seasonal variation of reproductive traits in sheep. Three reproductive seasonality traits were studied: the total days of anoestrous (TDA), the progesterone cycling months (P4CM) and the oestrous cycling months (OCM). In total, 18 SNPs were detected in 33 ewes with extreme values for TDA and OCM. Six SNPs were non-synonymous substitutions and two of them were predicted in silico as deleterious: rs596133197 and rs403578195. These polymorphisms were then validated in 239 ewes. The SNP rs403578195, located in exon 8 and leading to a change of alanine to glycine (Ala284Gly) in the extracellular domain of the protein, was associated with the OCM trait, being the G allele associated with a decrease of 12 percent of the OCM trait. Haplotype analyses also suggested the involvement of other non-synonymous SNP located in exon 20 (rs405459906). This SNP also produces an amino acid change (Lys1069Glu) in the intracellular domain of the protein and segregates independently of rs403578195. These results confirm for the first time the role of the gene in sheep reproductive seasonality.
本研究的目的是表征和鉴定绵羊繁殖性状季节性变化所涉及的（）基因中的致病多态性。研究了三个繁殖季节性性状：乏情总天数（TDA）、孕酮循环月数（P4CM）和发情循环月数（OCM）。总共在33只TDA和OCM值极端的母羊中检测到18个单核苷酸多态性（SNP）。其中6个SNP为非同义替换，其中两个在计算机模拟中被预测为有害：rs596133197和rs403578195。然后在239只母羊中对这些多态性进行了验证。位于外显子8的SNP rs403578195导致蛋白质细胞外结构域中的丙氨酸变为甘氨酸（Ala284Gly），与OCM性状相关，G等位基因与OCM性状降低12%相关。单倍型分析还表明位于外显子20的其他非同义SNP（rs405459906）也有影响。该SNP也在蛋白质的细胞内结构域产生氨基酸变化（Lys1069Glu），并且与rs403578195独立分离。这些结果首次证实了该基因在绵羊繁殖季节性中的作用。
