OMIA 001952-9940 : Microtia in Ovis aries

In other species: pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600674

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Species-specific description: Hereditary underdevelopment of the ear

Mapping: Having genotyped 8 affected and 12 non-affected sheep each with the Illumina OvineSNP50® chip, Jawasreh et al. (2016) reported that "a single-locus analysis revealed a statistically significant association (P = 0.012, genome-wide) with a SNP at basepair 34 647 499 on OAR23. This marker is adjacent to the gene encoding transcription factor GATA-6, which has been shown to play a role in many developmental processes, including chondrogenesis. The lack of extended homozygosity in this region suggests a fairly ancient mutation, and the time of occurrence was estimated to be approximately 3000 years ago."

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

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
Altay Microtia HMX1 duplication He et al. (2020): "a 76 Bp Duplication of HMX1" 2020 31691317

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.
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.

Edit History


  • Created by Frank Nicholas on 26 Mar 2016
  • Changed by Frank Nicholas on 03 Sep 2018
  • Changed by Frank Nicholas on 31 Jan 2020