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山羊:不同可变剪接变体的mRNA表达谱及其与生长性状的关联分析

Goat : mRNA expression profiles of different alternative spliced variants and associations analyses with growth traits.

作者信息

He Libang, Kang Zihong, Kang Yuxin, Xiang Weixuan, Pan Chuanying, Chen Hong, Zhu Haijing, Qu Lei, Lan Xianyong, Song Xiaoyue

机构信息

1Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100 Shaanxi People's Republic of China.

2Shaanxi Provincial Engineering and Technology Research Center of Cashmere Goats, Yulin University, Yulin, 719000 Shaanxi People's Republic of China.

出版信息

3 Biotech. 2020 Mar;10(3):131. doi: 10.1007/s13205-020-2125-6. Epub 2020 Feb 22.

Abstract

CKLF like MARVEL transmembrane domain containing 2 () plays crucial roles in spermiogenesis, skeletogenous, growth, and development through PI3K/Akt and other pathways. The purpose of this study was to explore the expression profile and variation of different spliced gene in Shaanbei white cashmere goats, as well as to find the relationships between a promoter region 14 bp genetic variant and growth traits in 1366 Shaanbei white cashmere goats. In this study, we identified alternative splicing and detected the effects of the spliced variants on mRNA expression levels in tissues. Meanwhile, an unreported spliced variant of in goat was identified using in CDS cloning and RT-PCR, namely, . Compared with the normal transcript (), the novel variant had the higher expression level in muscle and liver tissues, indicating that it plays an effective role in growth traits. Furthermore, a 14 bp deletion was detected within promoter region, and the different genotypes were significantly associated with growth traits (e.g., body length, circumference of cannon bone) in the large group of 1366 individuals in Shaanbei white cashmere goats. We found that the body length of the individuals with II ( = 571) genotype had better phenotypes than those with DD ( = 118) and ID ( = 650) genotypes. These results have direct guiding significance for goat breeding in the future and provide a new idea for studying the characteristics and functions of gene in goats.

摘要

含MARVEL跨膜结构域的CKLF样蛋白2()通过PI3K/Akt等途径在精子发生、骨骼生成、生长和发育中发挥关键作用。本研究旨在探究陕北白绒山羊中不同剪接的基因的表达谱和变异情况,以及在1366只陕北白绒山羊中发现一个启动子区域14bp遗传变异与生长性状之间的关系。在本研究中,我们鉴定了可变剪接,并检测了剪接变异体对组织中mRNA表达水平的影响。同时,利用CDS克隆和RT-PCR在山羊中鉴定了一个未报道的剪接变异体,即。与正常转录本()相比,该新变异体在肌肉和肝脏组织中具有较高的表达水平,表明其在生长性状中发挥有效作用。此外,在启动子区域检测到一个14bp的缺失,不同基因型与1366只陕北白绒山羊大群体中的生长性状(如体长、管围)显著相关。我们发现II型(=571)基因型个体的体长表型优于DD型(=118)和ID型(=650)基因型个体。这些结果对未来山羊育种具有直接指导意义,并为研究山羊基因的特性和功能提供了新思路。

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A 14-bp functional deletion within the CMTM2 gene is significantly associated with litter size in goat.
Theriogenology. 2019 Nov;139:49-57. doi: 10.1016/j.theriogenology.2019.07.026. Epub 2019 Jul 23.
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Two Insertion/Deletion Variants within Gene Are Associated with Goat Body Measurement Traits.
Animals (Basel). 2019 Jun 21;9(6):379. doi: 10.3390/ani9060379.
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A novel missense mutation (L280V) within POU1F1 gene strongly affects litter size and growth traits in goat.
Theriogenology. 2019 Sep 1;135:198-203. doi: 10.1016/j.theriogenology.2019.06.021. Epub 2019 Jun 12.
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Two strongly linked single nucleotide polymorphisms (Q320P and V397I) in GDF9 gene are associated with litter size in cashmere goats.
Theriogenology. 2019 Feb;125:115-121. doi: 10.1016/j.theriogenology.2018.10.013. Epub 2018 Oct 19.
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