Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus.
Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus.
复制标题
大鼠 Hps cDNA 的表征和进化比较以及红眼稀释 (r) 基因座的排除。
DOI：
10.1007/s003350020046
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
Spritz,RA
中科院分区：
文献类型：
--
作者：
Oh,J;LeCras,TD;Spritz,RA
本文对大鼠Hermansky-Pudlak综合征（Hps） cDNA进行了表征，并排除了红眼稀释(r)位点。Hps是一种常染色体隐性遗传病，以皮肤白化病为特征；由于缺乏血小板致密颗粒，储存池不足和溶酶体储存的类cerloid物质而有出血倾向。哺乳动物和果蝇HPS蛋白序列的比较显示，该蛋白的羧基部分具有惊人的保守性，这表明该区域可能对HPS功能具有特殊意义。但是对红眼稀释(r)突变大鼠的大鼠Hps基因的分析没有发现任何异常，这表明Hps可能与大鼠r不对应。
This article focuses on a study that was conducted to characterize the rat Hps (Hermansky-Pudlak syndrome) cDNA and exclusion of red-eyed dilution (r) locus. Hps is an autosomal recessive disorder characterized by oculocutaneous albinism; bleeding tendency due lack of platelet-dense granules, storage pool deficiency and lysosomal storage of ceroid-like material. Comparison of the mammalian and Drosophila HPS protein sequences shows striking conservation of the carboxyl portion of the protein, suggesting that this region may be of particular significance to HPS function. But analysis of the rat Hps gene in red-eyed dilution (r)-mutant rats failed to identify any abnormalities, suggesting that Hps likely does not correspond to rat r.