OMIA 000806-9940 : Polyceraty in Ovis aries

In other species: goat

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Co-Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2021

Cross-species summary: Having more horns than the usual two, due to the early splitting of horn buds during development (A. Capitan, pers. comm. to FN)

Species-specific description: Henson (1961) provided evidence suggesting that the presence of 4 horns is an autosomal recessive trait.

History: Allais-Bonnet et al. (2021): "Polyceraty was already observed ca 6000 BCE, in the oldest ovine remains from Çatalhöyük, Turkey (Epstein 1971; Putelat 2005) and this dominant trait currently segregates in several sheep breeds around the world."

Mapping: In two papers published simultaneously in the same journal, Greyvenstein et al. (2016) and Kijas et al. (2016) confirmed by GWAS that polyceraty is a single-locus trait, and mapped the locus to chromosome OAR2 in the Damara breed and in the Jacob and Navajo-Churro breeds, respectively. These results show that the presence of more than two horns is a separate trait from polled/horns, which maps to chromosome OAR10 (OMIA 000483-9940)

From a GWAS involving "24 two-horned versus 22 four-horned phenotypes in a native Chinese breed of Sishui Fur sheep", followed by LD analysis and haplotype analysis, Ren et al. (2016) narrowed the candidate region to 132.0-133.1 Mb, which includes possible comparative candidate genes "EVX2 and KIAA1715, which have a close association with the formation of limbs and genital buds".

He et al. (2016) reported a similar location (132.6 to 132.7 Mb on chromosome OAR2) for the trait in "three Chinese indigenous breeds: Altay, Mongolian and Sishui Fur sheep".

He et al. (2018): "All three GWAS analyses for typical, atypical . . . and all polycerate phenotypes revealed the same genome‐wide significant SNP marker (rs399639314) at the position of 132.814 Mb on ovine chromosome 2"

Allais-Bonnet et al. (2021) "fine-mapped the ovine POLYCERATE locus between positions 132,717,593 and 133,151,166 bp on Chr2 (Oar_v4.0 assembly".

Molecular basis: Allais-Bonnet et al. (2021): "By comparing whole genome sequences of 11 polycerate specimens and 1’179 controls representing the world-wide sheep diversity, we identified a single candidate variant in . . . [the mapped location mentioned above]: a four-nucleotide deletion located at position +4 to +7 bp after exon 1 of the HOXD1 gene (g.132,832,249_132,832,252del; . . . ), i.e. encompassing three nucleotides (+4, +5, +6) of the consensus splice donor site . . . . Genotyping of this variant in 236 animals from eight populations containing polycerate specimens showed a perfect genotype to phenotype association . . . . Moreover, cross-species alignments revealed that the +4 and +5 nucleotides are conserved amongst 103 sarcopterigian and tetrapod species, indicating the occurence of a genuine and consensual splice donor site and hence suggesting a detrimental effect of the micro-deletion in the splicing of HOXD1 precursor RNAs".

Breeds: Damara, Jacob, Navajo-Churro.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
HOXD1 homeobox D1 Ovis aries 2 NC_056055.1 (133949709..133947471) HOXD1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Polyceraty HOXD1 deletion, small (<=20) Oar_rambouillet_v1.0 2 g.144548739_144548742del "a four-nucleotide deletion located at position +4 to +7 bp after exon 1 of the HOXD1 gene ([Oar_v4.0] g.132,832,249_132,832,252del; . . . ), i.e. encompassing three nucleotides (+4, +5, +6) of the consensus splice donor site" (Allais-Bonnet et al., 2021) 2021 33528505

References


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 Allais-Bonnet, A., Hintermann, A., Deloche, M.C., Cornette, R., Bardou, P., Naval-Sanchez, M., Pinton, A., Haruda, A., Grohs, C., Zakany, J., Bigi, D., Medugorac, I., Putelat, O., Greyvenstein, O., Hadfield, T., Jemaa, S.B., Bunevski, G., Menzi, F., Hirter, N., Paris, J.M., Hedges, J., Palhiere, I., Rupp, R., Lenstra, J.A., Gidney, L., Lesur, J., Schafberg, R., Stache, M., Wandhammer, M.D., Arbogast, R.M., Guintard, C., Blin, A., Boukadiri, A., Rivière, J., Esquerré, D., Donnadieu, C., Danchin-Burge, C., Reich, C.M., Riley, D.G., van Marle-Koster, E., Cockett, N., Hayes, B.J., Drögemüller, C., Kijas, J., Pailhoux, E., Tosser-Klopp, G., Duboule, D., Capitan, A. :
Analysis of polycerate mutants reveals the evolutionary co-option of HOXD1 for horn patterning in bovidae. Mol Biol Evol :, 2021. Pubmed reference: 33528505. DOI: 10.1093/molbev/msab021.
He, X.H., Jiang, L., Pu, Y.B., Zhao, Q.J., Ma, Y.H. :
Progress on genetic mapping and genetic mechanism of cattle and sheep horns. Yi Chuan 43:40-51, 2021. Pubmed reference: 33509773. DOI: 10.16288/j.yczz.20-229.
Salehian-Dehkordi, H., Xu, Y.X., Xu, S.S., Li, X., Luo, L.Y., Liu, Y.J., Wang, D.F., Cao, Y.H., Shen, M., Gao, L., Chen, Z.H., Glessner, J.T., Lenstra, J.A., Esmailizadeh, A., Li, M.H., Lv, F.H. :
Genome-wide detection of copy number variations and their association with distinct phenotypes in the world's sheep. Front Genet 12:670582, 2021. Pubmed reference: 34093663. DOI: 10.3389/fgene.2021.670582.
2018 He, X., Song, S., Chen, X., Song, T., Lobsang, T., Guan, W., Pu, Y., Zhao, Q., Jiang, L., Ma, Y. :
Genome-wide association analysis reveals the common genetic locus for both the typical and atypical polycerate phenotype in Tibetan sheep. Anim Genet 49:142-143, 2018. Pubmed reference: 29441598. DOI: 10.1111/age.12644.
2016 Greyvenstein, O.F., Reich, C.M., van Marle-Koster, E., Riley, D.G., Hayes, B.J. :
Polyceraty (multi-horns) in Damara sheep maps to ovine chromosome 2. Anim Genet 47:263-6, 2016. Pubmed reference: 26767563. DOI: 10.1111/age.12411.
He, X., Zhou, Z., Pu, Y., Chen, X., Ma, Y., Jiang, L. :
Mapping the four-horned locus and testing the polled locus in three Chinese sheep breeds. Anim Genet 47:623-7, 2016. Pubmed reference: 27427781. DOI: 10.1111/age.12464.
Kijas, J.W., Hadfield, T., Naval Sanchez, M., Cockett, N. :
Genome-wide association reveals the locus responsible for four-horned ruminant. Anim Genet 47:258-62, 2016. Pubmed reference: 26767438. DOI: 10.1111/age.12409.
Ren, X., Yang, G.L., Peng, W.F., Zhao, Y.X., Zhang, M., Chen, Z.H., Wu, F.A., Kantanen, J., Shen, M., Li, M.H. :
Erratum: A genome-wide association study identifies a genomic region for the polycerate phenotype in sheep (Ovis aries). Sci Rep 7:25322, 2016. Pubmed reference: 27203473. DOI: 10.1038/srep25322.
Ren, X., Yang, G.L., Peng, W.F., Zhao, Y.X., Zhang, M., Chen, Z.H., Wu, F.A., Kantanen, J., Shen, M., Li, M.H. :
A genome-wide association study identifies a genomic region for the polycerate phenotype in sheep (Ovis aries). Sci Rep 6:21111, 2016. Pubmed reference: 26883901. DOI: 10.1038/srep21111.
2005 Putelat, O. :
Le bestiaire polycère Revue de Paléobiologie 10:293-301, 2005.
1971 Epstein, H. :
The origin of the domesticated animals of Africa. Africana Publishing Corporation. New York :, 1971.
1962 Atmadilaga, D., Asikin :
Some observations on the inheritance of polyceraty in the Priangan sheep Communicationes Veterinariae 6:63-68, 1962.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 26 Oct 2011
  • Changed by Frank Nicholas on 21 Jan 2016
  • Changed by Frank Nicholas on 26 Apr 2016
  • Changed by Frank Nicholas on 01 Aug 2016
  • Changed by Frank Nicholas on 23 Mar 2018
  • Changed by Frank Nicholas on 06 Nov 2020
  • Changed by Frank Nicholas on 04 Feb 2021