Tsutsumi Makiko, Imai Shuichiro, Kyono-Hamaguchi Yoriko, Hamaguchi Satoshi, Koga Akihiko, Hori Hiroshi
Division of Biological Sciences, Graduate School of Science, Nagoya University, Japan.
Pigment Cell Res. 2006 Jun;19(3):243-7. doi: 10.1111/j.1600-0749.2006.00300.x.
The medaka fish albino mutant, i(1) is one of the Tomita collection of medaka pigmentation mutants which exhibits a complete albino phenotype, because of inactivation of the tyrosinase gene due to insertion of a transposable element, Tol-1. Recently, mosaic black-pigmented i(1) medaka fish have arisen in one of our laboratory breeding populations. Their pigmented cells have been observed in all of the tissues, including the eye and skin, in which melanin is detectable in the wild type. In this study, we analyzed the tyrosinase gene of revertants and showed Tol-1 to have been precisely excised from the gene, suggesting a causal relationship. Mosaic patterns of pigmentation indicate spontaneous somatic excision of the element from the tyrosinase gene. To our knowledge, this is the first transposable element with somatic excision activity demonstrated phenotypically in vertebrates. The pattern of pigmentation in mosaic revertants indicates frequencies of melanin pigments to be consistent with the numbers of melanophores per unit area of body sites, such as the eyes, head and dorsal trunk.
青鳉鱼白化突变体i(1)是富田收集的青鳉色素沉着突变体之一,由于转座元件Tol-1插入导致酪氨酸酶基因失活,表现出完全白化表型。最近,在我们实验室的一个养殖群体中出现了镶嵌有黑色色素的i(1)青鳉鱼。在所有组织中都观察到了它们的色素细胞,包括眼睛和皮肤,在野生型中这些组织中可检测到黑色素。在本研究中,我们分析了回复突变体的酪氨酸酶基因,发现Tol-1已从该基因中精确切除,表明存在因果关系。色素沉着的镶嵌模式表明该元件从酪氨酸酶基因中自发进行了体细胞切除。据我们所知,这是第一个在脊椎动物中通过表型证明具有体细胞切除活性的转座元件。镶嵌回复突变体中的色素沉着模式表明,黑色素的频率与身体部位(如眼睛、头部和背部躯干)每单位面积的黑素细胞数量一致。