チョウの羽の色と模様を制御する「スーパージーン」の秘密を解明(Secrets of the butterfly ‘supergene’ that controls wing colors and patterns)

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2025-10-31 シカゴ大学(UChicago)

UChicago の研究チームは、タテハチョウ科の一種である Papilio alphenor において、単一の「スーパージーン(supergene)」が異なる翅色・模様を制御し、捕食者から身を守るための擬態(ミミクリ)を可能にしていることを明らかにした。対象となった遺伝子は doublesex で、雄と雌でゲノムはほぼ同一にもかかわらず、雌だけが極端に異なる斑点模様(他種を模倣)を示す。研究では、CRISPR やゲノム解析を用い、スーパージーンが周辺に新たに取り込んだ複数のシス制御要素(近傍の非コードDNA)が遺伝子発現を変化させ、模様の切り替えを可能にしていることを突き止めた。これにより、「複雑な色・模様パターンは多数の遺伝子によるもの」という従来仮説を覆し、単一遺伝子+制御要素の統合作用でも高度な形質を制御できることを示した。研究者らは、この発見が進化多様性・生物模倣の理解に新たな道を開くとともに、色・模様形成に関わる遺伝子スイッチの探索領域を拡大すると期待している。

チョウの羽の色と模様を制御する「スーパージーン」の秘密を解明(Secrets of the butterfly ‘supergene’ that controls wing colors and patterns)
The female swallowtail butterfly (left) has extra orange spots and a different shape on its wings to mimic species that are toxic to predators, while the male (right) has the standard set of white patches on a black background.Photo courtesy of Grant Czadzek

<関連情報>

蝶の擬態スーパー遺伝子の機能的遺伝要素 Functional genetic elements of a butterfly mimicry supergene

Nicholas W. VanKuren, Sofia I. Sheikh, Claire L. Fu, +3 , and Marcus R. Kronforst
Proceedings of the National Academy of Sciences  Published:October 8, 2025
DOI:https://doi.org/10.1073/pnas.2509864122

Significance

Balanced polymorphisms are often controlled by genetic variation in just a single locus that switches between alternate phenotypes. Here, we establish that novel cis-regulatory elements (CREs) of the conserved transcription factor gene doublesex underlie the switch between mimetic and nonmimetic butterfly wing patterns. dsx and these novel CREs are locked together by an inversion, showing that this dsx “supergene” combines traditional concepts of multigene supergenes with our current understanding of the complexity of gene regulation. We identify a molecular basis for the functions of a historically important supergene and provide insight into how conserved genes can be co-opted into new roles in development.

Abstract

Development requires the coordinated action of many genes across space and time, yet numerous species can develop discrete, alternate phenotypes. Such complex balanced polymorphisms are often controlled by supergenes: multiple tightly linked loci that function together to control development of a complex phenotype. Supergenes are widespread in nature. However, the evolution and functions of supergene alleles remain obscure because the identities of the functional loci, and the causative variation between them, remain essentially unknown. The doublesex supergene controls mimicry polymorphism in the swallowtail butterflies Papilio polytes and Papilio alphenor. Alternate alleles cause development of discrete mimetic or nonmimetic wing patterns. We found that the mimetic allele evolved by gaining six new cis-regulatory elements (CREs) and an inversion that locked those CREs together with dsx and the novel noncoding gene U3X. At least four of these new CREs are essential for dsx expression and mimetic pattern development. Genome-wide assays of DSX binding suggest that dsx controls mimetic pattern development by directly regulating the expression of both itself and a handful of unlinked genes. The dsx supergene thus contains multiple functional genetic elements, each required for the phenotype switch and linked together by an inversion, and likely exerts its effects on color pattern development through direct regulation of unlinked “modifier” genes. Our results therefore support classic theories of supergene evolution, but update those ideas to match what we have learned about gene regulation since their development over a half century ago.

生物環境工学
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