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全基因组选择特征研究确定了与绵羊产奶性状相关的基因组区域和候选基因。

Genome-wide study for signatures of selection identifies genomic regions and candidate genes associated with milk traits in sheep.

作者信息

Ebrahimi Fatemeh, Gholizadeh Mohsen, Sahebalam Hamid

机构信息

Department of Animal Science, Faculty of Animal Science and Fisheries, Sari Agricultural Sciences and Natural Resources University, Sari, Iran.

出版信息

Mamm Genome. 2025 Mar;36(1):140-150. doi: 10.1007/s00335-025-10107-1. Epub 2025 Feb 4.

Abstract

Milk production traits in sheep are influenced by complex genetic factors, and understanding these traits requires the identification of candidate genes under selection. This study employed two methods, FST and XP-EHH, to identify selection signatures and candidate genes associated with milk production traits in sheep. For this purpose, 9 different breeds from the Sheep HapMap dataset generated by the International Sheep Genomics Consortium (ISGC) based on analysis of the Ovine SNP50 BeadChip were used. The dairy breeds included Brown East Friesian (n = 39), Milk Lacaune (n = 103), Chios (n = 23), Churra (n = 120), and Comisana (n = 24), while the non-dairy breeds included Afshari (n = 37), Moghani (n = 34), Galway (n = 49), and Australian Suffolk (n = 109). Genomic regions in the top 0.1 percentile of FST values revealed 71 genes, while regions with the highest positive XP-EHH values identified 69 genes. Five overlapping genes-DHRS3, TNFRSF1B, AADACL4, ARHGEF11, and LRRC71-were detected by both methods, highlighting their relevance to milk production. Several candidate genes in regions identified from FST, such as PER2, SH3PXD2A, TMEM117, DDX6, PDCD11, CALHM2, and CALHM3, have been previously associated with milk production traits. Notably, CRABP2, PEAR1, PGM1, ALG6, COX15, and OAT were identified in regions with high XP-EHH values in the dairy group. Gene ontology analysis indicated that the identified genes are enriched in pathways related to chemokine receptor activity, gap junction channel activity, and gap junction-mediated intercellular transport, as well as cellular components like the connexin complex. Further studies on these genes may improve understanding of the genetic architecture of milk production traits in sheep.

摘要

绵羊的产奶性状受复杂的遗传因素影响,了解这些性状需要识别受选择的候选基因。本研究采用两种方法,即固定指数(FST)和跨种群扩展单倍型纯合性检验(XP-EHH),来识别与绵羊产奶性状相关的选择印记和候选基因。为此,使用了国际绵羊基因组学联盟(ISGC)基于对绵羊SNP50芯片分析生成的绵羊单倍型图谱数据集中的9个不同品种。奶用品种包括东弗里生褐羊(n = 39)、拉考内奶羊(n = 103)、基奥斯羊(n = 23)、丘拉羊(n = 120)和科米萨纳羊(n = 24),而非奶用品种包括阿夫沙里羊(n = 37)、莫加尼羊(n = 34)、戈尔韦羊(n = 49)和澳大利亚萨福克羊(n = 109)。FST值处于前0.1百分位的基因组区域揭示了71个基因,而XP-EHH值最高的区域识别出69个基因。两种方法均检测到5个重叠基因——脱氢酶/还原酶3(DHRS3)、肿瘤坏死因子受体超家族成员1B(TNFRSF1B)、芳基乙酸脱羧酶样4(AADACL4)、鸟嘌呤核苷酸交换因子11(ARHGEF11)和富含亮氨酸重复序列蛋白71(LRRC71),突出了它们与产奶的相关性。从FST识别出的区域中的几个候选基因,如周期蛋白2(PER2)、含SH3结构域的PX结构域蛋白2A(SH3PXD2A)、跨膜蛋白117(TMEM117)、DEAD框螺旋酶6(DDX6)、程序性细胞死亡蛋白11(PDCD11)、钙稳态调节蛋白2(CALHM2)和钙稳态调节蛋白3(CALHM3),先前已与产奶性状相关。值得注意的是,在奶用品种组中XP-EHH值高的区域识别出了细胞视黄酸结合蛋白2(CRABP2)、血小板内皮聚集受体-1(PEAR1)、磷酸葡萄糖变位酶1(PGM1)、N-乙酰葡糖胺磷酸转移酶6(ALG6)、细胞色素c氧化酶亚基15(COX15)和鸟氨酸氨基转移酶(OAT)。基因本体分析表明,所识别的基因在与趋化因子受体活性、间隙连接通道活性和间隙连接介导的细胞间运输相关的途径以及连接蛋白复合体等细胞成分中富集。对这些基因的进一步研究可能会增进对绵羊产奶性状遗传结构的理解。

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