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Identification of the causative gene for Simmental arachnomelia syndrome using a network-based disease gene prioritization approach.


ABSTRACT: 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 ?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.

SUBMITTER: Jiao S 

PROVIDER: S-EPMC3655968 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Identification of the causative gene for Simmental arachnomelia syndrome using a network-based disease gene prioritization approach.

Jiao Shihui S   Chu Qin Q   Wang Yachun Y   Xie Zhenquan Z   Hou Shiyu S   Liu Airong A   Wu Hongjun H   Liu Lin L   Geng Fanjun F   Wang Congyong C   Qin Chunhua C   Tan Rui R   Huang Xixia X   Tan Shixin S   Wu Meng M   Xu Xianzhou X   Liu Xuan X   Yu Ying Y   Zhang Yuan Y  

PloS one 20130516 5


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 ∼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 (BOS  ...[more]

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