《生命科学》 2026, 38(8): 1517-1533
蝶类基因组学研究进展与展望
摘 要：
蝶类因其绚丽多彩的形态与丰富的多样性受到广泛关注，也是生物学研究的重要类群。近年来，测序技术数据分析方法的进步与基因编辑等实验方法的革新，共同推动了蝶类研究进入基因组学时代，使其成为一个发展迅速且体系日益完善的研究领域。这些研究深化了我们对生物多样性及适应性的形成及演化机制的理解。本文旨在梳理蝶类基因组学的研究历程与重要进展，并对相关的关键技术方法进行综述。
通讯作者：张 蔚 , Email:weizhangvv@pku.edu.cn
Abstract:
Butterflies, with their spectacular morphological diversity and complex ecological adaptations, have long served as a premier model system for studying evolution, development, and ecology. The advent of the genomic era, marked by the publication of the first reference genome for the monarch butterfly (Danaus plexippus) in 2011, has fundamentally transformed lepidopteran research. This revolution is driven by the convergence of rapidly advancing sequencing technologies, sophisticated bioinformatic tools, and powerful functional validation methods like CRISPR/Cas9 gene editing. These advances have enabled a paradigm shift from descriptive studies to mechanistic investigations of the genetic and developmental basis of butterfly diversity. This review synthesizes the remarkable progress in butterfly genomics research over the past 15 years, providing a comprehensive overview of the field′s evolution, key findings, and future trajectories. We begin by outlining the technological journey that has underpinned this progress. We detail how sequencing paradigms have evolved from early short-read assemblies to the current era of highly contiguous, chromosome-scale genomes achieved through long-read sequencing (PacBio, Oxford Nanopore) and chromatin conformation capture (Hi-C) techniques. This section highlights how each technological leap, from the first reference genome to the latest assemblies incorporating threedimensional chromatin data, has broadened the scope of biological questions, allowing researchers to advance from gene discovery to analysis of genomic architecture and regulatory evolution. We then synthesize major scientific advances facilitated by these genomic resources. We discuss insights from butterfly phylogenomics, where large-scale datasets have
resolved long-standing debates about higher-level relationships and timing of diversification events. A central focus is the functional genomics of wing patterning, a classic example of evolutionary developmental biology (Evo-Devo). We systematically review the identification and validation of conserved ″genetic toolkit″ genes (e.g., WntA, optix) governing color pattern elements, and the groundbreaking work elucidating how cis-regulatory evolution and non-coding RNAs (e.g., the cortex locus and its associated ivory lncRNA and mir-193 miRNA) generate stunning pattern diversity, from Müllerian mimicry rings in Heliconius to seasonal polyphenisms in Junonia. Beyond color patterns, we also cover genomic insights into other adaptive traits, including migration, detoxification, and sensory biology. Finally, we critically assess the current state of the field, identifying persistent challenges such as uneven taxonomic sampling of genomes, barriers to conducting functional validation in non-model species, and the need to integrate micro-effect genetic variation into models of complex trait evolution. Based on these limitations, we propose a forward-looking perspective. The next frontier lies in integrating singlecell multi-omics, spatial transcriptomics, and advanced gene-editing approaches to construct predictive, multi-scale models that bridge the gap from genotype to phenotype. By consolidating knowledge on the history, methods, and major discoveries in butterfly genomics, this review aims to serve as a foundational reference for both newcomers and established researchers, while charting a course for future work that will further solidify butterfly′s role at the forefront of evolutionary and functional genomics.
Communication Author：ZHANG Wei , Email:weizhangvv@pku.edu.cn
SciCloud投稿系统