Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama, Japan.
Anim Sci J. 2009 Oct;80(5):611-5. doi: 10.1111/j.1740-0929.2009.00678.x.
A case of lysosomal storage disease has been reported in a calf of Japanese Black cattle. Lysosomal storage diseases are hereditary diseases caused by deficiency of lysosomal hydrolases. The clinical and pathological features and accumulated substrates of the affected animal indicated a possibility of sialidosis or galactosialidosis caused by deficiency of neuraminidase (NEU1) or protective protein for beta-galactosidase (PPGB). In the present study, we investigated nucleotide sequences of the genes encoding these two proteins to evaluate whether mutation of these genes is involved in this disease. We determined cattle genomic sequences of these two genes by using bovine EST sequences and the nucleotide sequences of all exons of these genes were compared between affected and normal animals. The results showed several nucleotide substitutions, but none of them was a functional mutation or specific to the affected animal. Furthermore, genotyping of the microsatellite markers in the vicinity of these two genes revealed no homozygosity of the chromosomal regions including these genes in the affected animal. These findings indicated that neither NEU1 nor PPGB gene is responsible for the lysosomal storage disease of Japanese Black cattle and therefore the disease is neither sialidosis nor galactosialidosis.
已报道一例日本黑牛犊患溶酶体贮积症。溶酶体贮积症是由溶酶体水解酶缺乏引起的遗传性疾病。受影响动物的临床和病理学特征以及积累的底物表明，神经氨酸酶（NEU1）或β-半乳糖苷酶保护蛋白（PPGB）缺乏可能导致唾液酸贮积症或半乳糖唾液酸贮积症。在本研究中，我们研究了这两个蛋白编码基因的核苷酸序列，以评估这些基因的突变是否与该疾病有关。我们使用牛 EST 序列确定了这两个基因的牛基因组序列，并比较了受影响和正常动物的这些基因的所有外显子的核苷酸序列。结果显示了几个核苷酸取代，但没有一个是功能突变或仅存在于受影响的动物中。此外，这两个基因附近微卫星标记的基因型分析显示，受影响动物的染色体区域既没有包括这些基因在内的杂合性。这些发现表明，NEU1 或 PPGB 基因均与日本黑牛的溶酶体贮积症无关，因此该病既不是唾液酸贮积症，也不是半乳糖唾液酸贮积症。
