CEFE, CNRS, Université de Montpellier, Université Paul Valéry Montpellier 3, EPHE, IRD, Montpellier, France.
Department of Cell and Developmental Biology, John Innes Centre, Norwich NR4 7UH, UK.
Curr Biol. 2018 Jun 4;28(11):1839-1845.e3. doi: 10.1016/j.cub.2018.04.072. Epub 2018 May 24.
Supergenes are groups of tightly linked loci whose variation is inherited as a single Mendelian locus and are a common genetic architecture for complex traits under balancing selection [1-8]. Supergene alleles are long-range haplotypes with numerous mutations underlying distinct adaptive strategies, often maintained in linkage disequilibrium through the suppression of recombination by chromosomal rearrangements [1, 5, 7-9]. However, the mechanism governing the formation of supergenes is not well understood and poses the paradox of establishing divergent functional haplotypes in the face of recombination. Here, we show that the formation of the supergene alleles encoding mimicry polymorphism in the butterfly Heliconius numata is associated with the introgression of a divergent, inverted chromosomal segment. Haplotype divergence and linkage disequilibrium indicate that supergene alleles, each allowing precise wing-pattern resemblance to distinct butterfly models, originate from over a million years of independent chromosomal evolution in separate lineages. These "superalleles" have evolved from a chromosomal inversion captured by introgression and maintained in balanced polymorphism, triggering supergene inheritance. This mode of evolution involving the introgression of a chromosomal rearrangement is likely to be a common feature of complex structural polymorphisms associated with the coexistence of distinct adaptive syndromes. This shows that the reticulation of genealogies may have a powerful influence on the evolution of genetic architectures in nature.
超级基因座是紧密连锁的基因座群体,其变异作为单个孟德尔基因座遗传,是平衡选择下复杂性状的常见遗传结构[1-8]。超级基因座等位基因是具有许多突变的长距离单倍型,具有不同的适应策略,通常通过染色体重排抑制重组来维持连锁不平衡[1、5、7-9]。然而,超级基因座形成的机制尚不清楚,这构成了在面临重组时建立分歧功能单倍型的悖论。在这里,我们表明,蝴蝶 Heliconius numata 中模拟多态性的超级基因座等位基因的形成与一个不同的、倒置的染色体片段的渗入有关。单倍型分化和连锁不平衡表明,每个超级基因座等位基因都允许与不同的蝴蝶模型精确的翅膀图案相似,起源于独立谱系中超过一百万年的独立染色体进化。这些“超级等位基因”是由染色体倒位的渗入进化而来,并通过平衡多态性维持,引发超级基因座遗传。这种涉及染色体重排渗入的进化模式可能是与不同适应综合征共存的复杂结构多态性的共同特征。这表明,系统发生的混合可能对自然中遗传结构的进化产生强大的影响。