The discovery of the microphthalmia locus and its gene, Mitf.
The discovery of the microphthalmia locus and its gene, Mitf.
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DOI：
10.1111/j.1755-148x.2010.00759.x
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发表时间：
2010-12
影响因子：
4.3
通讯作者：
Arnheiter H
中科院分区：
文献类型：
--
作者：
Arnheiter H
小眼症基因及其基因(现在被称为MITF)的发现历史证明了机缘巧合的胜利。虽然第一个小眼症突变是在一只为了突变目的而受到辐射的小鼠的后代中发现的，但这种突变很可能不是辐射诱发的，而是在后来繁殖的一只小鼠的父母中自发发生的。虽然MITF最终可能被其他分子遗传技术识别，但它是通过在小眼球基因座偶然插入转基因而被克隆的。尽管MITF被发现编码一个著名的转录因子家族的成员，但如果MITF没有被证明对许多不同器官的生理和病理至关重要，包括眼睛、耳朵、免疫系统、骨骼和皮肤，特别是黑色素瘤，它的分析可能还处于起步阶段。事实上，MITF近70年的研究已经导致了对许多特定细胞类型的发育、功能、退化和恶性肿瘤的许多见解，并希望有一天这些见解将导致那些患有这些细胞类型疾病的患者受益的治疗。
The history of the discovery of the microphthalmia locus and its gene, now called Mitf, is a testament to the triumph of serendipity. Although the first microphthalmia mutation was discovered among the descendants of a mouse that was irradiated for the purpose of mutagenesis, the mutation most likely was not radiation-induced but occurred spontaneously in one of the parents of a later breeding. Although Mitf might eventually have been identified by other molecular genetic techniques, it was first cloned from a chance transgene insertion at the microphthalmia locus. And although Mitf was found to encode a member of a well-known transcription factor family, its analysis might still be in its infancy had Mitf not turned out to be of crucial importance for the physiology and pathology of many distinct organs, including eye, ear, immune system, bone, and skin, and in particular for melanoma. In fact, near seven decades of Mitf research have led to many insights about development, function, degeneration, and malignancies of a number of specific cell types, and it is hoped that these insights will one day lead to therapies benefitting those afflicted with diseases originating in these cell types.