van Oost B A, Versteeg S A, Imholz S, Kooistra H S
Department of Clinical Sciences of Companion Animals, Utrecht University, P.O. Box 80.154, NL-3508 TD Utrecht, The Netherlands.
Mol Cell Endocrinol. 2002 Nov 29;197(1-2):57-62. doi: 10.1016/s0303-7207(02)00292-7.
Pituitary dwarfism in the German shepherd dog is an autosomal recessive inherited abnormality. We tested the hypothesis that a variant of the LIM homeodomain gene LHX4 is responsible for the dwarfism phenotype. To this end, we isolated Bacterial Artificial Chromosome clones for the canine LHX4 gene. Southern blotting experiments showed that the LHX4 gene is a single copy gene in the canine genome. A complex CA-repeat was isolated from the BAC clones and was found to be polymorphic in German shepherd dogs. Genotyping 5 litters in which the dwarfism was segregating showed disconcordance between the inheritance of the dwarfism phenotype and the DNA marker. It is concluded that the LHX4 gene does not play a primary role in the pituitary dwarfism in the German shepherd dogs.
德国牧羊犬的垂体性侏儒症是一种常染色体隐性遗传异常。我们对LIM同源结构域基因LHX4的一个变体导致侏儒症表型这一假说进行了测试。为此，我们分离了犬类LHX4基因的细菌人工染色体克隆。Southern印迹实验表明，LHX4基因在犬类基因组中是单拷贝基因。从BAC克隆中分离出一个复杂的CA重复序列，发现其在德国牧羊犬中具有多态性。对5窝侏儒症正在分离的犬进行基因分型，结果显示侏儒症表型的遗传与DNA标记之间不一致。得出的结论是，LHX4基因在德国牧羊犬的垂体性侏儒症中不发挥主要作用。
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