OMIA 000806-9925 : Polyceraty in Capra hircus

In other species: sheep

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."

Associated gene:

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

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 Year Published PubMed ID(s) Acknowledgements
Polyceraty HOXD1 delins, gross (>20) ARS1 2 g.115652290_116155699delins137kb 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.
2006 Heitzmann, A. :
Trianon, la ferme du Hameau. Versalia :114-129, 2006.

Edit History


  • Created by Frank Nicholas on 06 Nov 2020
  • Changed by Frank Nicholas on 04 Feb 2021
  • Changed by Frank Nicholas on 06 Feb 2021