Eisenbarth I, Hoffmeyer S, Kaufmann D, Assum G, Krone W
Abteilung Humangenetik, Universität Ulm, Germany.
Arch Dermatol Res. 1995;287(5):413-6. doi: 10.1007/BF00373420.
Neurofibromatosis type 1 (NF1) is characterized by clinical features that primarily affect tissues derived from the neural crest (neurofibromas, café-aulait macules). Because aberrant regulation of alternative splicing in the NF1 gene transcript may be of functional significance, cultured melanocytes from café-aulait macules (CALM), as an example of benign NF1 lesions, were examined for the expression of the different alternative splice products of this gene. Both kinds of NF1 messengers (type 1 and 2) were found not only in CALM melanocytes but also in keratinocytes, fibroblasts and blood cells. Except in blood cells, there was a predominance of the type 2 transcript. Melanocytes from NF1 patients and healthy donors showed similar expression patterns under several culture conditions. Our results suggest that the development of CALM does not correlate with a switch in the ratio of type 1 to type 2 NF1 messenger RNA.
1型神经纤维瘤病（NF1）的临床特征主要影响源自神经嵴的组织（神经纤维瘤、咖啡斑）。由于NF1基因转录本中可变剪接的异常调控可能具有功能意义，作为良性NF1病变的一个例子，对来自咖啡斑（CALM）的培养黑素细胞进行了该基因不同可变剪接产物表达的检测。两种NF1信使RNA（1型和2型）不仅在CALM黑素细胞中发现，也在角质形成细胞、成纤维细胞和血细胞中发现。除血细胞外，2型转录本占优势。来自NF1患者和健康供体的黑素细胞在几种培养条件下表现出相似的表达模式。我们的结果表明，CALM的发生与1型和2型NF1信使RNA比例的转换无关。
