OMIA 001952-9940 : Microtia in Ovis aries
Mastrangelo et al. (2018) obtained a strong signal on a different chromosome in the Valle del Belice breed: "A total of 40 individuals, 20 with microtia and 20 normal, were genotyped with the Illumina OvineSNP50 BeadChip. The comparison among the results from a genome-wide association study, Fisher's exact test and FST analysis revealed a single strong association signal: rs419889303 on chromosome 1, located within intron 3 of the CLRN1 gene. Our study suggests for the first time that this novel candidate gene is responsible for microtia in sheep."
In the Altay breed, a GWAS by He et al. (2020) identified a region on chromosome OAR6.Molecular basis: Within the candidate region on chromosome OAR6, He et al. (2020) identified a 76-bp duplication in the HMX1 gene that was completely concordant with microtia in their sample of 129 Altay sheep, and is absent from 6 other breeds investigated. Breed: Awassi. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HMX1||H6 family homeobox 1||Ovis aries||6||NC_040257.1 (127045675..127041869)||HMX1||Homologene, Ensembl, NCBI gene|
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|
|Altay||Microtia||HMX1||duplication||He et al. (2020): "a 76 Bp Duplication of HMX1"||2020||31691317|
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.
|2020||He, S., Zhang, Z., Sun, Y., Ren, T., Li, W., Zhou, X., Michal, J.J., Jiang, Z., Liu, M. :|
|Genome-wide association study shows that microtia in Altay sheep is caused by a 76 bp duplication of HMX1. Anim Genet 51:132-136, 2020. Pubmed reference: 31691317. DOI: 10.1111/age.12876.|
|2018||Mastrangelo, S., Sottile, G., Sutera, A.M., Di Gerlando, R., Tolone, M., Moscarelli, A., Sardina, M.T., Portolano, B. :|
|Genome-wide association study reveals the locus responsible for microtia in Valle del Belice sheep breed. Anim Genet 49:636-640, 2018. Pubmed reference: 30160299. DOI: 10.1111/age.12719.|
|2016||Jawasreh, K., Boettcher, P.J., Stella, A. :|
|Genome-wide association scan suggests basis for microtia in Awassi sheep. Anim Genet 47:504-6, 2016. Pubmed reference: 26990958. DOI: 10.1111/age.12431.|
|2002||Porter, V. :|
|Mason's World Dictionary of Livestock Breeds, Types and Varieties. 5th edn. C.A.B International, Wallingford, UK. :, 2002.|
|1930||Lush, J.L. :|
|Earlessness in Karakul sheep Journal of Heredity 21:107-112, 1930.|
- Created by Frank Nicholas on 26 Mar 2016
- Changed by Frank Nicholas on 03 Sep 2018
- Changed by Frank Nicholas on 31 Jan 2020