文献类型： 外文期刊

作者： Bai, Hao ¹ ; He, Yanghua ² ; Ding, Yi ² ; Chu, Qin ² ; Lian, Ling ⁶ ; Heifetz, Eliyahu M. ⁷ ; Yang, Ning ⁶ ; Cheng, Hans ¹ ;

作者机构： 1.Yangzhou Univ, Inst Agr Sci & Technol Dev, Minist Educ China, Joint Int Res Lab Agr & Agriprod Safety, Yangzhou 225009, Jiangsu, Peoples R China

2.Univ Maryland, Dept Anim & Avian Sci, College Pk, MD 20742 USA

3.Chinese Acad Agr Sci, Inst Anim Sci, Minist Agr, Key Lab Anim Poultry Genet Breeding & Reprod, Beijing 100193, Peoples R China

4.Univ Hawaii Manoa, Dept Human Nutr Food & Anim Sci, Honolulu, HI 96822 USA

5.Beijing Acad Agr & Forestry Sci, Inst Anim Husb & Vet Med, Beijing 100097, Peoples R China

6.China Agr Univ, Coll Anim Sci & Technol, Dept Anim Genet & Breeding, Beijing 100193, Peoples R China

7.Jerusalem Coll Technol, Fac Hlth Sci, IL-9116001 Jerusalem, Israel

8.ARS, USDA, Avian Dis & Oncol Lab, E Lansing, MI 48823 USA

关键词： Copy number variation; Chicken; Inbred lines; Recombinant congenic strains; Marek's disease; Next generation sequencing

期刊名称：BMC GENETICS （ 影响因子：2.797； 五年影响因子：3.263 ）

ISSN： 1471-2156

年卷期： 2020 年 21 卷 1 期

页码：

收录情况： SCI

摘要： Background Marek's disease (MD) is a highly neoplastic disease primarily affecting chickens, and remains as a chronic infectious disease that threatens the poultry industry. Copy number variation (CNV) has been examined in many species and is recognized as a major source of genetic variation that directly contributes to phenotypic variation such as resistance to infectious diseases. Two highly inbred chicken lines, 6(3)(MD-resistant) and 7(2)(MD-susceptible), as well as their F(1)generation and six recombinant congenic strains (RCSs) with varied susceptibility to MD, are considered as ideal models to identify the complex mechanisms of genetic and molecular resistance to MD. Results In the present study, to unravel the potential genetic mechanisms underlying resistance to MD, we performed a genome-wide CNV detection using next generation sequencing on the inbred chicken lines with the assistance of CNVnator. As a result, a total of 1649 CNV regions (CNVRs) were successfully identified after merging all the nine datasets, of which 90 CNVRs were overlapped across all the chicken lines. Within these shared regions, 1360 harbored genes were identified. In addition, 55 and 44 CNVRs with 62 and 57 harbored genes were specifically identified in line 6(3)and 7(2), respectively. Bioinformatics analysis showed that the nearby genes were significantly enriched in 36 GO terms and 6 KEGG pathways including JAK/STAT signaling pathway. Ten CNVRs (nine deletions and one duplication) involved in 10 disease-related genes were selected for validation by using quantitative real-time PCR (qPCR), all of which were successfully confirmed. Finally, qPCR was also used to validate two deletion events in line 7(2)that were definitely normal in line 6(3). One high-confidence gene,IRF2was identified as the most promising candidate gene underlying resistance and susceptibility to MD in view of its function and overlaps with data from previous study. Conclusions Our findings provide valuable insights for understanding the genetic mechanism of resistance to MD and the identified gene and pathway could be considered as the subject of further functional characterization.