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Identification of the Causative Gene for Simmental Arachnomelia Syndrome Using a Network-Based Disease Gene Prioritization Approach

文献类型： 外文期刊

作者： Jiao, Shihui 1 ; Chu, Qin 2 ; Wang, Yachun 1 ; Xie, Zhenquan 3 ; Hou, Shiyu 3 ; Liu, Airong 5 ; Wu, Hongjun 4 ; Liu, Lin; 1 ;

作者机构： 1.China Agr Univ, Coll Anim Sci & Technol, Natl Engn Lab Anim Breeding, Key Lab Agr Anim & Breeding, Beijing 100094, Peoples R China

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

3.Anshan Hengli Dairy Farm, Anshan, Liaoning, Peoples R China

4.Hailaer Farm Buro, Xiertala Breeding Farm, Hailaer, Inner Mongolia, Peoples R China

5.Hailaer Farm Buro, Hailaer, Inner Mongolia, Peoples R China

6.Beijing Dai

期刊名称：PLOS ONE （ 影响因子：3.24； 五年影响因子：3.788 ）

ISSN： 1932-6203

年卷期： 2013 年 8 卷 5 期

页码：

收录情况： SCI

摘要： Arachnomelia syndrome (AS), mainly found in Brown Swiss and Simmental cattle, is a congenital lethal genetic malformation of the skeletal system. In this study, a network-based disease gene prioritization approach was implemented to rank genes in the previously reported similar to 7 Mb region on chromosome 23 associated with AS in Simmental cattle. The top 6 ranked candidate genes were sequenced in four German Simmental bulls, one known AS-carrier ROMEL and a pooled sample of three known non-carriers (BOSSAG, RIFURT and HIRMER). Two suspicious mutations located in coding regions, a mis-sense mutation c.1303G>A in the bystin-like (BYSL) gene and a 2-bp deletion mutation c.1224_1225delCA in the molybdenum cofactor synthesis step 1 (MOCS1) gene were detected. Bioinformatic analysis revealed that the mutation in MOCS1 was more likely to be the causative mutation. Screening the c.1224_1225delCA site in 383 individuals from 12 cattle breeds/lines, we found that only the bull ROMEL and his 12 confirmed progeny carried the mutation. Thus, our results confirm the conclusion of Buitkamp et al. that the 2-bp deletion mutation c.1224_1225delCA in exon 11 of the MOCS1 gene is causative for AS in Simmental cattle. Furthermore, a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was developed to detect the causative mutation.

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