A supergene determines highly divergent male reproductive morphs in the ruff

TLDR

Background sentence: "A reference genome of the ruff (Philomachus pugnax) revealed that its three male morphs—independents, satellites, and faeders—represent a balanced autosomal polymorphism with distinct body size, ornamentation, and mating behaviors." Findings sentence: "A supergene—a fixed inversion on chromosome.

Abstract

Terry Burke, Mark Blaxter, David Lank and colleagues report a reference genome sequence of the ruff and analysis of the three distinct male morphs of this bird species. They identify a 'supergene' consisting of a fixed inversion in two of the morphs and identify candidate reproductive trait genes in this region. Three strikingly different alternative male mating morphs (aggressive 'independents', semicooperative 'satellites' and female-mimic 'faeders') coexist as a balanced polymorphism in the ruff, Philomachus pugnax, a lek-breeding wading bird1,2,3. Major differences in body size, ornamentation, and aggressive and mating behaviors are inherited as an autosomal polymorphism4,5. We show that development into satellites and faeders is determined by a supergene6,7,8 consisting of divergent alternative, dominant and non-recombining haplotypes of an inversion on chromosome 11, which contains 125 predicted genes. Independents are homozygous for the ancestral sequence. One breakpoint of the inversion disrupts the essential CENP-N gene (encoding centromere protein N), and pedigree analysis confirms the lethality of homozygosity for the inversion. We describe new differences in behavior, testis size and steroid metabolism among morphs and identify polymorphic genes within the inversion that are likely to contribute to the differences among morphs in reproductive traits.