A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene
A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene
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DOI：
10.1111/j.0022-202x.2005.23645.x
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发表时间：
2005-04-01
影响因子：
6.5
通讯作者：
Tensen, CP
中科院分区：
文献类型：
--
作者：
Verdijk, P;Dijkman, R;Tensen, CP
在缺乏伯贝克颗粒 (BG) 的人中，发现了与 Langerin mRNA 中第 837 位相对应的 Langerin 基因杂合突变。该突变导致 Langerine 蛋白碳水化合物识别结构域 264 位的色氨酸被精氨酸取代。突变的 Langerin 在人成纤维细胞中的表达会诱导管状结构，该结构对 BG 特异性抗体呈阴性，并且与 BG 的特征结构特征不相似。
A heterozygous mutation in the Langerin gene corresponding to position 837 in the Langerin mRNA was identified in a person deficient in Birbeck granules (BG). This mutation results in an amino acid replacement of tryptophan by arginine at position 264 in the carbohydrate recognition domain of the Langerine protein. Expression of mutated Langerin in human fibroblasts induces tubular-like structures that are negative for BG-specific antibodies and do not resemble the characteristic structural features of BG.