OMIA:000483-30521 : Polled/Horns in Bos grunniens (domestic yak)
Categories: Craniofacial phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 110100 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: unknown
Key variant known: yes
Year key variant first reported: 2017
Cross-species summary: Horns are paired appendages with a bony core that is attached to the skull and a keratin outer sheath. There is substantial variation in the extent of horn growth, making classification difficult. However, in general, the presence or absence of horns can be attributed to the action of two alleles at an autosomal locus. The type of gene action varies considerably between and among species. Absence of horns is called 'polled'. See also entries for 'scurs'.
Mapping: Using a comparative candidate region strategy, Liu et al. (2014) genotyped 50 polled Datong domestic yaks and 51 horned yaks, each with 12 genes located in the polled region on chromosome BTA1 of cattle. They concluded that "a 147-kb segment that included three protein-coding genes C1H21orf62, GCFC1 and SYNJ1 was the most likely location of the POLL mutation in domestic yaks". Liang et al. (2017) confirmed this result "with a panel of 10 horned and 10 polled yaks using whole genome sequencing".
Molecular basis: Medugorac et al. (2017) identified a polled allele in domestic yak that is identical to the third polled allele reported in cattle, namely the "Mongolian" allele that these same authors discovered in Mongolian Turano cattle (reported in the same paper). The sharing of this allele by yaks and cattle that have been herded together for more than 1,500 years is strongly indicative of natural introgression resulting from backcrossing female yak-cattle hybrids to male yaks. Medugorac et al. (2017) reported that the Mongolian allele is "a complex 219-bp duplication–insertion (P219ID) beginning at 1,976,128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position . . . . This rearrangement results in duplication of an 11-bp motif (5′-AAAGAAGCAAA-3′) that is entirely conserved among Bovidae . . . and that is also duplicated in the 80-kb duplication responsible for Friesian polledness".
Have human generated variants been created, e.g. through genetic engineering and gene editing
Datong, China (Domestic yak) (VBO_0016868),
Mongolian Yak, Mongolia (Yak (domestic)) (VBO_0016813).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|POLLED||Bos grunniens||-||no genomic information (-..-)||POLLED||Ensembl|
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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|
|845||Polled, Mongolian allele||POLLED||P[sub]M or P[sub]219ID||complex rearrangement||Naturally occurring variant||"a complex 219-bp duplication-insertion (P219ID) beginning at 1,976,128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position . . . . This rearrangement results in duplication of an 11-bp motif (5'-AAAGAAGCAAA-3') that is entirely conserved among Bovidae . . . and that is also duplicated in the 80-kb duplication responsible for Friesian polledness"||2017||28135247|
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.
|2017||Medugorac, I., Graf, A., Grohs, C., Rothammer, S., Zagdsuren, Y., Gladyr, E., Zinovieva, N., Barbieri, J., Seichter, D., Russ, I., Eggen, A., Hellenthal, G., Brem, G., Blum, H., Krebs, S., Capitan, A. :|
|Whole-genome analysis of introgressive hybridization and characterization of the bovine legacy of Mongolian yaks. Nat Genet 49:470-475, 2017. Pubmed reference: 28135247. DOI: 10.1038/ng.3775.|
|2016||Liang, C., Wang, L., Wu, X., Wang, K., Ding, X., Wang, M., Chu, M., Xie, X., Qiu, Q., Yan, P. :|
|Genome-wide Association Study Identifies Loci for the Polled Phenotype in Yak. PLoS One 11:e0158642, 2016. Pubmed reference: 27389700. DOI: 10.1371/journal.pone.0158642.|
|2014||Liu, W.B., Liu, J., Liang, C.N., Guo, X., Bao, P.J., Chu, M., Ding, X.Z., Wang, H.B., Zhu, X.S., Yan, P. :|
|Associations of single nucleotide polymorphisms in candidate genes with the polled trait in Datong domestic yaks. Anim Genet 45:138-41, 2014. Pubmed reference: 24033474. DOI: 10.1111/age.12081.|
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