Department of Molecular Biology, Princeton University, Princeton, New Jersey 08544; email:
Max-Planck-Institut für Entwicklungsbiologie, 72076 Tübingen, Germany; email:
Annu Rev Cell Dev Biol. 2016 Oct 6;32:1-46. doi: 10.1146/annurev-cellbio-113015-023138. Epub 2016 Aug 3.
In large-scale mutagenesis screens performed in 1979-1980 at the EMBL in Heidelberg, we isolated mutations affecting the pattern or structure of the larval cuticle in Drosophila. The 600 mutants we characterized could be assigned to 120 genes and represent the majority of such genes in the genome. These mutants subsequently provided a rich resource for understanding many fundamental developmental processes, such as the transcriptional hierarchies controlling segmentation, the establishment of cell states by signaling pathways, and the differentiation of epithelial cells. Most of the Heidelberg genes are now molecularly known, and many of them are conserved in other animals, including humans. Although the screens were initially driven entirely by curiosity, the mutants now serve as models for many human diseases. In this review, we describe the rationale of the screening procedures and provide a classification of the genes on the basis of their initial phenotypes and the subsequent molecular analyses.
在 1979-1980 年于海德堡的 EMBL 进行的大规模诱变筛选中，我们分离到了影响果蝇幼虫表皮模式或结构的突变。我们鉴定的 600 个突变体可分配到 120 个基因，代表了基因组中此类基因的大部分。这些突变体随后为理解许多基本发育过程提供了丰富的资源，例如控制分节的转录层次结构、通过信号通路建立细胞状态，以及上皮细胞的分化。大多数海德堡基因现在已经在分子水平上得到了认识，其中许多基因在包括人类在内的其他动物中是保守的。虽然这些筛选最初完全是出于好奇心驱动，但这些突变体现在已成为许多人类疾病的模型。在这篇综述中，我们描述了筛选程序的基本原理，并根据它们的初始表型和随后的分子分析对基因进行了分类。
