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高通量靶向外显子组测序评估的牛角鳞状细胞癌的分子特征:初步报告。

Molecular portrait of squamous cell carcinoma of the bovine horn evaluated by high-throughput targeted exome sequencing: a preliminary report.

机构信息

Department of Animal Biotechnology, College of Veterinary Sciences & A.H., Anand Agricultural University, Anand, 388001, India.

出版信息

BMC Vet Res. 2020 Nov 26;16(1):461. doi: 10.1186/s12917-020-02683-y.

Abstract

BACKGROUND

Squamous Cell Carcinoma of horn, also known as horn cancer, is a prevailing type of cancer in cattles especially Bos indicus. It is one of the most prevalent disease in Indian bullocks often resulting in death and huge economic losses to farmers. Here, we have reported the use of targeted exome sequencing to identify variants present in horn cancer affected horn mucosa tissue and blood of the same animal to identify some of the prevalent markers of horn cancer.

RESULTS

We have observed higher number of variants present in tissue as compared to blood as well as among cancer samples compared to samples from normal animals. Eighty six and 1437 cancer-specific variants were identified among the predicted variants in blood and tissue samples, respectively. Total 25 missense variants were observed distributed over 18 genes. KRT8 gene coding for Keratin8, one of the key constituents of horn, displayed 5 missense variants. Additionally, three other genes involved in apoptosis pathway and two genes involved in antigen presentation and processing also contained variants.

CONCLUSIONS

Several genes involved in various apoptotic pathways were found to contain non-synonymous mutations. Keratin8 coding for Keratin, a chief constituent of horn was observed to have the highest number of mutations. In all, we present a preliminary report of mutations observed in horn cancer.

摘要

背景

角鳞状细胞癌,也称为角癌,是牛,尤其是印度野牛中流行的一种癌症。它是印度公牛中最常见的疾病之一,常导致死亡和农民的巨大经济损失。在这里,我们报告了使用靶向外显子组测序来鉴定在受影响的角组织和同一动物的血液中存在的变体,以鉴定一些角癌的常见标志物。

结果

与血液相比,我们在组织中观察到更多的变体,并且在癌症样本中比在正常动物的样本中观察到更多的变体。在血液和组织样本中分别预测到的变体中,分别鉴定出 86 和 1437 个癌症特异性变体。总共观察到分布在 18 个基因中的 25 个错义变体。角蛋白 8(KRT8)基因编码角蛋白,是角的主要成分之一,显示出 5 个错义变体。此外,还发现了另外三个参与细胞凋亡途径的基因和两个参与抗原呈递和加工的基因也含有变体。

结论

发现参与各种细胞凋亡途径的几个基因含有非同义突变。角蛋白 8(KRT8)基因编码角蛋白,是角的主要成分之一,观察到突变数量最多。总之,我们初步报告了角癌中观察到的突变。

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