Arachnomelia syndrome in Simmental cattle is caused by a homozygous 2-bp deletion in the molybdenum cofactor synthesis step 1 gene (MOCS1)
作者: Buitkamp JohannesSemmer JördisGötz Kay-Uwe
刊名: BMC Genetics, 2011, Vol.12 (1), pp.11
来源数据库: Directory of Open Access Journals
原始语种摘要: Abstract Background Arachnomelia syndrome is an autosomal recessive inherited disease in cattle. Affected calves die around birth and show malformations of the skeleton mainly affecting the legs, the spinal column and the skull. A number of arachnomelia syndrome affected Simmental calves were recently detected by a surveillance system of anomalies with a peak of more than 120 recorded cases in the year 2006. The causative mutation was previously mapped to a 9 cM-region on bovine chromosome 23. We herein report the fine-mapping and identification of the gene causing arachnomelia syndrome in Simmental cattle. Results By using a dense set of markers, the arachnomelia syndrome linked region could be refined to 1.5 cM harbouring three protein coding genes. Comparative sequencing of these genes...
全文获取路径: DOAJ  (合作)
影响因子:2.808 (2012)

  • cofactor 辅助因子
  • cattle 
  • homozygous 纯合的
  • molybdenum 
  • region 地域
  • synthesis 合成
  • functional 功能的
  • sequencing 排序
  • termination 终止
  • protein 蛋白质