OMIA:001890-198806 : Male body size/courtship behaviour in Philomachus pugnax
In other species: Panuco swordtail , Perugia's limia
Categories: Reproductive system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 155555 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2015
Species-specific name: alternative reproductive tactics
Species-specific description: Lank et al. (1995) described two "morphs" in this species: independent males "have a territorial breeding strategy of defending lek mating courts against other independents" while satellites, which are non-territorial, "move among, are recruited to and share independents' courts". Jukema and Piersma (2006) added a third, namely "faeder": "Faeders are slightly larger than females and in late April have testes 2.5 time the size of testes of normal males. On leks in aviaries and in the wild they appear to combine feminine and masculine behaviours. Faeders may represent the ancestral, care-giving, male strategy, but their relatively large testes suggest that currently they behave as sneakers."
A video demonstrating ruff male reproductive strategies at a lek in Karesuando, Sweden is viewable at
Inheritance: From planned matings, Lank et al. (1995) concluded that the two "morphs" of mating strategy in this species (independent and satellite) are determined by the segregation of two alleles at an autosomal locus, with satellite allele (S) being dominant to the independent allele (s). Lank et al. (2013) attributed the "faeder" morph to a dominant allele, but were not sure whether it was part of the S locus.
Molecular basis: Two independent papers published simultaneously online in 2015 and as adjacent papers in 2016 (Lamichhaney et al., 2016; Küpper et al., 2016) showed that the two variant morphs (satellites and faeders) are associated with a 4.5Mb inversion on the ruff orthologue of chicken chromosome GGA11 which, due to the well-known lethality of recombinants within an inversion, has created a supergene determining male breeding behaviour, body size and plumage colour. The large sequence divergence between the wild-type and inverted variant (1.4%) indicates that the inversion happened about 4 million years ago. The inversion disrupts an essential gene (CENPN) and is therefore lethal in the homozygous condition, which means that it has been maintained as a balanced polymorphism for millions of years. Furthermore, some 500,000 years ago, the inverted supergene recombined with the wild-type allele creating a second version. Faeders possess one copy of the original inverted supergene, satellite males have one copy of the newer recombinant version, and independents lack either version. The inverted region contains about 90 genes, which include five genes (e.g. HSD17B2) affecting the metabolism of steroid hormones and the MC1R gene that is assumed to explain the white colour in satellites. (based on text kindly provided by Leif Andersson)
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CENPN||centromere protein N||Philomachus pugnax||NW_015090842.1 (5801588..5810753)||CENPN||Homologene, Ensembl , NCBI gene|
|HSD17B2||hydroxysteroid (17-beta) dehydrogenase 2||Philomachus pugnax||NW_015090842.1 (6257506..6268838)||HSD17B2||Homologene, Ensembl , NCBI gene|
|MC1R||melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)||Philomachus pugnax||NW_015090842.1 (10201411..10202590)||MC1R||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|863||Male body size/courtship behaviour||CENPN||inversion||Naturally occurring variant||"a 4.5Mb inversion on the ruff orthologue of chicken chromosomr GGA11 which, due to the well-known lethality of recombinants within an inversion, has created a supergene determining male breeding behaviour, body size and plumage colour"||2016||26569123|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Loveland, J.L., Lank, D.B., Küpper, C. :|
|Gene expression modification by an autosomal inversion associated with three male mating morphs. Front Genet 12:641620, 2021. Pubmed reference: 34149796 . DOI: 10.3389/fgene.2021.641620.|
|Loveland, J.L., Giraldo-Deck, L.M., Lank, D.B., Goymann, W., Gahr, M., Küpper, C. :|
|Functional differences in the hypothalamic-pituitary-gonadal axis are associated with alternative reproductive tactics based on an inversion polymorphism. Horm Behav 127:104877, 2021. Pubmed reference: 33186586 . DOI: 10.1016/j.yhbeh.2020.104877.|
|2016||Küpper, C., Stocks, M., Risse, J.E., Dos Remedios, N., Farrell, L.L., McRae, S.B., Morgan, T.C., Karlionova, N., Pinchuk, P., Verkuil, Y.I., Kitaysky, A.S., Wingfield, J.C., Piersma, T., Zeng, K., Slate, J., Blaxter, M., Lank, D.B., Burke, T. :|
|A supergene determines highly divergent male reproductive morphs in the ruff. Nat Genet 48:79-83, 2016. Pubmed reference: 26569125 . DOI: 10.1038/ng.3443.|
|Lamichhaney, S., Fan, G., Widemo, F., Gunnarsson, U., Thalmann, D.S., Hoeppner, M.P., Kerje, S., Gustafson, U., Shi, C., Zhang, H., Chen, W., Liang, X., Huang, L., Wang, J., Liang, E., Wu, Q., Lee, S.M., Xu, X., Höglund, J., Liu, X., Andersson, L. :|
|Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pugnax). Nat Genet 48:84-8, 2016. Pubmed reference: 26569123 . DOI: 10.1038/ng.3430.|
|2015||Callaway, E. :|
|'Supergene’ determines wading birds’ sex strategy Nature news :, 2015. DOI: 10.1038/nature.2015.18802 .|
|Jiggins, C.D. :|
|A flamboyant behavioral polymorphism is controlled by a lethal supergene. Nat Genet 48:7-8, 2015. Pubmed reference: 26711109 . DOI: 10.1038/ng.3472.|
|2014||Farrell, L.L., Küpper, C., Burke, T., Lank, D.B. :|
|Major breeding plumage color differences of male ruffs (Philomachus pugnax) are not associated with coding sequence variation in the MC1R gene. J Hered 106:211-5, 2014. Pubmed reference: 25534935 . DOI: 10.1093/jhered/esu079.|
|2013||Lank, D.B., Farrell, L.L., Burke, T., Piersma, T., McRae, S.B. :|
|A dominant allele controls development into female mimic male and diminutive female ruffs. Biol Lett 9:20130653, 2013. Pubmed reference: 24196515 . DOI: 10.1098/rsbl.2013.0653.|
|2006||Jukema, J., Piersma, T. :|
|Permanent female mimics in a lekking shorebird. Biol Lett 2:161-4, 2006. Pubmed reference: 17148353 . DOI: 10.1098/rsbl.2005.0416.|
|1999||Lank, D.B., Coupe, M., Wynne-Edwards, K.E. :|
|Testosterone-induced male traits in female ruffs (Philomachus pugnax): autosomal inheritance and gender differentiation. Proceedings of the Royal Society, Series B: Biological Sciences 266:2323–2330, 1999.|
|1995||Lank, D.B., Smith, C.M., Hanotte, O., Burke, T., Cooke, F. :|
|Genetic polymorphism for alternative mating behaviour in lekking male ruff Philomachus pugnax. Nature 378:59-62, 1995.|
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