Development and application of arachnomelia syndrome genetic detection in four Chinese dual-purpose cattle populations.

Arachnomelia syndrome (AS) is an autosomal recessive hereditary disorder in cattle, and affected calves are usually stillborn and characterized by complex anomalies. Therefore, identification of the carrier animals based on genetic tests is important for the control and elimination of this defect. The aim of this study was to build an effective workflow to routinely screen the AS mutations in bovine MOSC1 and SUOX genes and determine individuals carrying the AS mutations in four Chinese cattle populations.

[Establishment of the detection method for two causative genes of cattle arachnomelia syndrome].

Arachnomelia syndrome (AS) is a recessive inherited disease in cattle. Although the arachnomelia phenotypes are virtually identical in Brown Swiss and Simmental cattle, the causative mutation are different, which are a 1 bp insertion c.363-364insG in the sulfite oxidase (SUOX) gene and a 2 bp deletion c.

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

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).