Maak Steffen, Jaesert Simone, Neumann Karsten, von Lengerken Gerhard
Institute of Animal Breeding and Husbandry with Veterinary Clinic, Martin-Luther-University Halle-Wittenberg, Adam-Kuckhoff-Strasse 35, 06108 Halle, Germany.
Genet Sel Evol. 2003;35 Suppl 1(Suppl 1):S157-65. doi: 10.1186/1297-9686-35-S1-S157.
Congenital splay leg is a hereditary disease observed in newborn piglets. The etiology and pathogenetic mechanism of the disorder are still unknown. The gene for cyclin-dependent protein kinase inhibitor 3 (CDKN3) was identified as a potential candidate gene in a differential display experiment. We analyzed the gene on sequence variations and compared its expression in M. biceps femoris between healthy and affected piglets. Comparative sequencing of the coding region of three healthy and four splay leg piglets revealed twelve single nucleotide polymorphisms (SNP) resulting in six amino acid exchanges in the deduced sequences. However, all polymorphisms were observed in healthy as well as in splay leg piglets thus excluding structural differences of the gene as a cause of the disease. Besides full length transcripts, we found a variety of aberrantly transcribed cDNA in clones derived from M. biceps femoris of healthy as well as of splay leg piglets. All alternative transcripts coexist with normal cDNA. Expression analysis revealed a trend towards higher values in M. biceps femoris of splay leg piglets supporting the results obtained from a differential display.
先天性叉腿症是一种在新生仔猪中观察到的遗传性疾病。该病症的病因和发病机制仍不清楚。在差异显示实验中，细胞周期蛋白依赖性蛋白激酶抑制剂3（CDKN3）基因被确定为一个潜在的候选基因。我们分析了该基因的序列变异，并比较了其在健康仔猪和患病仔猪股二头肌中的表达。对三只健康仔猪和四只叉腿症仔猪的编码区进行比较测序，发现了12个单核苷酸多态性（SNP），这些多态性在推导序列中导致了6个氨基酸的交换。然而，在健康仔猪和叉腿症仔猪中均观察到了所有的多态性，因此排除了该基因的结构差异是导致该病的原因。除了全长转录本外，我们在来自健康仔猪和叉腿症仔猪股二头肌的克隆中发现了多种异常转录的cDNA。所有的可变转录本都与正常cDNA共存。表达分析显示，叉腿症仔猪股二头肌中的值有升高的趋势，这支持了差异显示实验的结果。
