OMIA:000806-9940 : Polyceraty in Ovis aries (sheep) |
In other species: goat
Categories: Craniofacial phene
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal co-dominant
Disease-related: 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 name: four-horn phenotype
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". Zhang et al. (2023; PMID:37846893) reported that the 4 bp deletion in HOXD1 identified by Allais-Bonnet et al. (2021) is causal for the polycerate trait in the Chinese Sishui fur sheep.
Breeds:
Damara (Sheep) (VBO_0001390),
Jacob (Sheep) (VBO_0001450),
Navajo-Churro (Sheep) (VBO_0001524),
Sishui, China (Sheep) (VBO_0015756).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1285 | Polyceraty | HOXD1 | deletion, small (<=20) | Naturally occurring variant | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000806-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Senczuk, G., Di Civita, M., Rillo, L., Macciocchi, A., Occidente, M., Saralli, G., D'Onofrio, V., Galli, T., Persichilli, C., Di Giovannantonio, C., Pilla, F., Matassino, D. : |
| The genome-wide relationships of the critically endangered Quadricorna sheep in the Mediterranean region. PLoS One 18:e0291814, 2023. Pubmed reference: 37851594. DOI: 10.1371/journal.pone.0291814. | |
| Zhang, C., Zhang, H., Di, T., Wang, G., Gao, F., Li, Z., Li, M., Yang, G. : | |
| The 4 bp deletion mutation in HOXD1 gene determines the polycerate trait in Chinese Sishui fur sheep. Anim Genet 54:820-822, 2023. Pubmed reference: 37846893. DOI: 10.1111/age.13369. | |
| Zhang, H., Yang, P., Liu, C., Ma, Y., Han, Y., Zeng, Y., Huang, Y., Zhao, Y., Zhao, Z., He, X., E, G. : | |
| Novel heredity basis of the four-horn phenotype in sheep using genome-wide sequence data. Animals (Basel) 13:3166, 2023. Pubmed reference: 37893889. DOI: 10.3390/ani13203166. | |
| 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 38:2260-72, 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. | |
| 2020 | Li, X., Yang, J., Shen, M., Xie, X.L., Liu, G.J., Xu, Y.X., Lv, F.H., Yang, H., Yang, Y.L., Liu, C.B., Zhou, P., Wan, P.C., Zhang, Y.S., Gao, L., Yang, J.Q., Pi, W.H., Ren, Y.L., Shen, Z.Q., Wang, F., Deng, J., Xu, S.S., Salehian-Dehkordi, H., Hehua, E., Esmailizadeh, A., Dehghani-Qanatqestani, M., Štěpánek, O., Weimann, C., Erhardt, G., Amane, A., Mwacharo, J.M., Han, J.L., Hanotte, O., Lenstra, J.A., Kantanen, J., Coltman, D.W., Kijas, J.W., Bruford, M.W., Periasamy, K., Wang, X.H., Li, M.H. : |
| Whole-genome resequencing of wild and domestic sheep identifies genes associated with morphological and agronomic traits. Nat Commun 11:2815, 2020. Pubmed reference: 32499537. DOI: 10.1038/s41467-020-16485-1. | |
| 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
- Changed by Imke Tammen2 on 19 Oct 2023
- Changed by Imke Tammen2 on 21 Oct 2023
- Changed by Imke Tammen2 on 03 Nov 2023
- Changed by Imke Tammen2 on 09 Nov 2023