Spana Eric P, Abrams Amanda B, Ellis Katharine T, Klein Jason C, Ruderman Brandon T, Shi Alvin H, Zhu Daniel, Stewart Andrea, May Susan
Department of Biology, Duke University, Durham, NC 27708
G3 (Bethesda). 2020 Sep 2;10(9):3387-3398. doi: 10.1534/g3.120.401470.
The pigmentation mutation is a commonly used recombination marker characterized by a darkly pigmented region at the wing hinge. Identified in 1910 by Thomas Hunt Morgan, was characterized by Sturtevant as the most "workable" mutant in the rightmost region of the second chromosome and eventually localized to 2-107.0 and 60C1-2. Though the first mutation was isolated over 110 years ago, is still not associated with any gene. Here, as part of an undergraduate-led research effort, we show that is encoded by the () gene. Both alleles from the Morgan lab contain a retrotransposon in exon 1 of the RB transcript of the gene. We have also identified a new insertion allele and generated multiple deletion alleles in that all give a strong phenotype. In addition, expression of RNAi constructs either ubiquitously or in the dorsal portion of the developing wing generates a similar phenotype. We find that alleles have additional phenotypes, including ectopic pigmentation in the posterior pupal case, leg joints, cuticular sutures and overall body color. We propose that the acetylated dopamine generated by decreases the dopamine pool available for melanin production. When function is decreased, the excess dopamine enters the melanin pathway to generate the phenotype.
色素沉着突变是一种常用的重组标记,其特征是在翅铰链处有一个色素沉着较深的区域。1910年由托马斯·亨特·摩根发现,斯特蒂文特将其描述为第二条染色体最右端区域中最“可行”的突变体,最终定位于2-107.0和60C1-2。尽管第一个突变体是在110多年前分离出来的,但它仍然与任何基因都没有关联。在这里,作为一项由本科生主导的研究工作的一部分,我们表明它是由()基因编码的。摩根实验室的两个等位基因在该基因RB转录本的外显子1中都含有一个逆转座子。我们还鉴定出了一个新的插入等位基因,并在该基因中产生了多个缺失等位基因,所有这些都产生了强烈的色素沉着突变体表型。此外,在发育中的翅膀的背侧部分或普遍表达RNAi构建体都会产生类似的色素沉着突变体表型。我们发现色素沉着突变等位基因还有其他表型,包括蛹后壳、腿部关节、表皮缝线和整体体色的异位色素沉着。我们提出,由该基因产生的乙酰化多巴胺会减少可用于黑色素生成的多巴胺池。当该基因的功能降低时,过量的多巴胺进入黑色素途径以产生色素沉着突变体表型。