Localization of neurofibromin to keratinocytes and melanocytes in developing rat and human skin.
Localization of neurofibromin to keratinocytes and melanocytes in developing rat and human skin.
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神经纤维蛋白在发育中的大鼠和人类皮肤中定位于角质形成细胞和黑素细胞。
DOI：
10.1111/1523-1747.ep12379925
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
Ratner,N
中科院分区：
文献类型：
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作者：
Malhotra,R;Ratner,N
色素缺陷在遗传性疾病1型神经纤维瘤病（NF 1）中很常见，预测了NF 1基因产物神经纤维蛋白在皮肤中的作用。我们用免疫组织化学方法来确定神经纤维蛋白在正常发育和成年大鼠皮肤，正常新生儿和成年人皮肤，皮肤与NF 1患者的分布。用原位杂交技术分析了表皮中NF 1 mRNA的分布。NF 1 mRNA和神经纤维蛋白在胚胎但非成年大鼠以及新生儿和成年人表皮棘层的角质形成细胞中高度富集。免疫电镜分析证实，神经纤维蛋白与角质形成细胞质膜，特别是邻近桥粒。在人类黑素细胞中也可检测到神经纤维蛋白。对NF 1患者皮肤的分析显示，10个色素沉着过度的黄斑和邻近未受影响的皮肤中有9个神经纤维蛋白表达正常。我们的结论是：1）神经纤维蛋白在围产期大鼠的表达密切平行的表达在人类; 2）减少可检测的神经纤维蛋白不能用来区分NF 1和正常的人类皮肤;和3）神经纤维蛋白可能在角质形成细胞，以及黑素细胞的功能。
Pigmentation defects are common in the inherited disease type 1 neurofibromatosis (NF1), predicting a role for the NF1 gene product, neurofibromin, in the skin. We used immunohistochemistry to determine the distribution of neurofibromin in normal developing and adult rat skin, normal neonatal and adult human skin, and skin from patients affected with NF1. The distribution of NF1 mRNA in the epidermis was also analyzed byin situhybridization. NF1 mRNA and neurofibromin are highly enriched in the keratinocytes in the stratum spinosum of the epidermis in the embryonic, but not adult, rat and in both neonatal and adult humans. Immunoelectron microscopic analysis confirmed that neurofibromin is associated with the keratinocyte plasma membrane, particularly adjacent to desmosomes. Neurofibromin is also detectable in human melanocytes. Analysis of skin from NF1 patients showed normal neurofibromin expression in nine of ten hyperpigmented cafe-aulait macules and in adjacent unaffected skin. We conclude that 1) neurofibromin expression in the perinatal rat closely parallels expression in the human; 2) reduction in detectable neurofibromin cannot be used to distinguish NF1 and normal human skin; and 3) neurofibromin might function in keratinocytes, as well as melanocytes.