Akita Kenji, Arai Shigeyuki, Ohta Tsunetaka, Hanaya Toshiharu, Fukuda Shigeharu
Biomedical Institute, Research Center, Hayashibara Biochemical Laboratories, Fujisaki, Okayama, Japan.
J Neurogenet. 2007 Jan-Jun;21(1-2):19-29. doi: 10.1080/01677060600843316.
Ataxic Syrian hamsters with an autosomal recessive trait were analyzed. Homozygotes showed moderate ataxia beginning at seven to eight weeks of age. They were fertile and lived more than two years. The affected hamsters exhibited an adult-onset degeneration of cerebellar Purkinje neurons, followed by a slow, mild reduction in the density of granule cells. Northern hybridization demonstrated that expression of Nna1, the gene responsible for the Purkinje cell degeneration (pcd) phenotype, was almost negligible in the brain of homozygous hamsters. These results strongly suggest that pcd-type mutation is involved in the ataxic phenotype of mutant hamsters.
对具有常染色体隐性性状的共济失调叙利亚仓鼠进行了分析。纯合子在7至8周龄时开始出现中度共济失调。它们可育，寿命超过两年。受影响的仓鼠表现出成年期小脑浦肯野神经元退化，随后颗粒细胞密度缓慢、轻度降低。Northern杂交表明，负责浦肯野细胞退化（pcd）表型的基因Nna1在纯合仓鼠大脑中的表达几乎可以忽略不计。这些结果有力地表明，pcd型突变与突变仓鼠的共济失调表型有关。
