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Insertion of an endogenous Jaagsiekte Sheep Retrovirus element into the BCO2 - gene abolish its function and leads to yellow discoloration of adipose tissue in Norwegian Spælsau (Ovis aries).
bioRxiv - Genomics Pub Date : 2020-07-09 , DOI: 10.1101/2020.06.11.145755
Matthew Kent , Michel Moser , Inger Anne Boman , Kristine Lindtveit , Mariann Árnyasi , Kristil Kindem Sundsaasen , Dag Inge Våge

Background: The accumulation of carotenoids in adipose tissue leading to yellow fat is, in sheep, a heritable recessive trait that can be attributed to a nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene. However, not all sheep breeds suffering from yellow fat have this nonsense mutation, meaning that other functional mechanisms must exist. We investigated one such breed, the Norwegian spælsau. Results: In spælsau we detected an aberration in BCO2 mRNA. Nanopore sequencing of genomic DNA revealed the insertion of a 7.9 kb endogenous Jaagsiekte Sheep Retrovirus (enJSRV) sequence in the first intron of the BCO2 gene. Close examination of its cDNA revealed that the BCO2 genes first exon was spliced together with enJSRV-sequence immediately downstream of a potential -AG splice acceptor site at enJSRV position 415. The hybrid protein product consists of 29 amino acids coded by the BCO2 exon 1, followed by 29 amino acids arbitrary coded for by the enJSRV-sequence, before a translation stop codon is reached. Conclusions: Considering that the functional BCO2 protein consists of 575 amino acids, it is unlikely that the 58 amino acid BCO2/enJSRV hybrid protein can display any enzymatic function. The existence of this novel BCO2 allele represents an alternative functional mechanism accounting for BCO2 inactivation and is a perfect example of the potential benefits for searching for structural variants using long-read sequencing data.

中文翻译:

将内生的Jaagsiekte绵羊逆转录病毒元件插入BCO2-基因会破坏其功能,并导致挪威Spælsau(羊)的脂肪组织变黄。

背景:在绵羊中,脂肪组织中类胡萝卜素的积累导致黄色脂肪,是一种可遗传的隐性性状,可以归因于β-胡萝卜素加氧酶2(BCO2)基因的无意义突变。但是,并非所有患有黄色脂肪的绵羊品种都具有这种无意义的突变,这意味着必须存在其他功能机制。我们调查了一个这样的品种,即挪威spælsau。结果:在spælsau,我们检测到BCO2 mRNA异常。基因组DNA的纳米孔测序表明,在BCO2基因的第一个内含子中插入了一个7.9 kb的内源性Jaagsiekte绵羊逆转录病毒(enJSRV)序列。仔细检查其cDNA,发现BCO2基因的第一个外显子与enJSRV序列剪接在一起,位于enJSRV位置415处潜在的-AG剪接受体位点的下游。杂合蛋白产物由BCO2外显子1编码的29个氨基酸组成,随后由enJSRV序列任意编码的29个氨基酸组成,直至达到翻译终止密码子。结论:考虑到功能性BCO2蛋白包含575个氨基酸,因此58个氨基酸的BCO2 / enJSRV杂合蛋白不太可能显示任何酶功能。这种新颖的BCO2等位基因的存在代表了BCO2失活的另一种功能机制,并且是使用长期阅读的测序数据搜索结构变体的潜在好处的完美示例。考虑到功能性BCO2蛋白包含575个氨基酸,因此58个氨基酸的BCO2 / enJSRV杂合蛋白不太可能显示任何酶功能。这种新颖的BCO2等位基因的存在代表了BCO2失活的另一种功能机制,并且是使用长期阅读的测序数据搜索结构变体的潜在好处的完美示例。考虑到功能性BCO2蛋白包含575个氨基酸,因此58个氨基酸的BCO2 / enJSRV杂合蛋白不太可能显示任何酶促功能。这种新颖的BCO2等位基因的存在代表了BCO2失活的另一种功能机制,并且是使用长期阅读的测序数据搜索结构变体的潜在好处的完美示例。
更新日期:2020-07-10
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