OMIA:000806-9925 : Polyceraty in Capra hircus (goat)
In other species: sheep
Categories: Craniofacial phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal 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)
History: Allais-Bonnet et al. (2021): "The oldest record of this condition in goat dates back from 1786, when a four-horned billy-goat was transferred from the city of Bulle in Switzerland to the model farm of French Queen MarieAntoinette in Versailles (Heitzmann 2006)"
Inheritance: Allais-Bonnet et al. (2021): "Because the knockdown of Mtx2 in zebrafish is embryonic lethal at gastrulation . . . and newborn mice homozygous for a deletion including Mtx2 were never scored (binomial p = 5.7 x 10-6; . . . ), we concluded that homozygosity at the goat POLYCERATE locus is an early lethal condition."
Mapping: Allais-Bonnet et al. (2021) "mapped the caprine POLYCERATE mutation to a 542 kb large region orthologous to that of the ovine locus (Chr2:115,143,037-115,685,115 bp on ARS1 assembly . . .), by using a panel of 35 polycerate and 51 two-horned goats obtained from eight European populations and genotyped with the Illumina GoatSNP50 BeadChip".
Molecular basis: Allais-Bonnet et al. (2021) identified a likely causal variant, namely "a rare type of structural variation located 57 kb downstream of the HOXD1 3’UTR . . . the translocation of 137 kb from Chr5 to Chr2 by means of a circular intermediate . . . and the deletion of 503 kb from the insertion site (g.115,652,290_116,155,699delins137kb . . .) . . . Genotyping of this variant in 77 case and 355 control goats originating from 24 distinct populations revealed a 100 percent association between polyceraty and heterozygosity for the large insertion-deletion."
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HOXD1||homeobox D1||Capra hircus||2||NC_030809.1 (115593830..115596023)||HOXD1||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|
|1286||Polyceraty||HOXD1||delins, gross (>20)||Naturally occurring variant||ARS1||2||g.115652290_116155699delins137kb||2021||33528505|
Cite this entry
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 38:2260-72, 2021. Pubmed reference: 33528505. DOI: 10.1093/molbev/msab021.|
|2006||Heitzmann, A. :|
|Trianon, la ferme du Hameau. Versalia :114-129, 2006.|
- Created by Frank Nicholas on 06 Nov 2020
- Changed by Frank Nicholas on 04 Feb 2021
- Changed by Frank Nicholas on 06 Feb 2021