OMIA 000483-30521 : Polled/Horns in Bos grunniens

In other species: cattle , goat , sheep , bighorn sheep , water buffalo , kouprey

Possibly relevant human trait(s) and/or gene(s) (MIM number): 110100

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: 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.

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".

Breeds: Datong, Mongolian.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
POLLED Bos grunniens - no genomic information (-..-) POLLED Ensembl

Variants

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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
Polled, Mongolian allele POLLED P[sub]M or P[sub]219ID complex rearrangement "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

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.
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.

Edit History


  • Created by Frank Nicholas on 18 Sep 2013
  • Changed by Frank Nicholas on 15 Aug 2017
  • Changed by Frank Nicholas on 03 Oct 2017
  • Changed by Frank Nicholas on 04 Oct 2017
  • Changed by Frank Nicholas on 16 Oct 2017