OMIA:002687-9940 : Fleece variation (fine vs coarse) in Ovis aries (sheep)
Categories: Integument (skin) phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2023
Mapping: Liang et al. (2023) "Whole-genome sequences of 140 samples, Ovine HD630K SNP array data of 385 samples, including fine, semi-fine, and coarse wool sheep, as well as skin transcriptomes of nine samples were integrated for genomic selection signature analysis. ... Two loci at keratin 74 (KRT74) and ectodysplasin receptor (EDAR) were revealed."
Molecular basis: Liang et al. (2023) "Fine-scale analysis in 250 fine/semi-fine and 198 coarse wool sheep narrowed this association to one C/A missense variant of KRT74 (OAR3:133,486,008, P = 1.02E-67) and one T/C SNP in the regulatory region upstream of EDAR (OAR3:61,927,840, P = 2.50E-43). Cellular over-expression and ovine skin section staining assays confirmed that C-KRT74 activated the KRT74 protein and specifically enlarged cell size at the Huxley’s layer of the inner root sheath (P < 0.01). This structure enhancement shapes the growing hair shaft into the finer wool than the wild type. Luciferase assays validated that the C-to-T mutation upregulated EDAR mRNA expression via a newly created SOX2 binding site and potentially led to the formation of more hair placodes."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|EDAR||ectodysplasin A receptor||Ovis aries||3||NC_056056.1 (62187089..62133808)||EDAR||Homologene, Ensembl , NCBI gene|
|KRT74||keratin 74, type II||Ovis aries||3||NC_056056.1 (133788112..133796687)||KRT74||Homologene, Ensembl , NCBI gene|
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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|
|1550||Fleece variation, wool density||EDAR||regulatory||Naturally occurring variant||Oar_v4.0||3||g.61927840T>C||the T allele is associated denser wool production in fine wool sheep||rs408766096||2023||37137429|
|1549||Fleece variation, fine wool||KRT74||missense||Naturally occurring variant||Oar_v4.0||3||g.133486008C>A||c.367C>A||p.(H123N)||XM_004006324.3; XP_004006373.1; the C allele is associated with wool fineness||rs427563779||2023||37137429|
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.
|2023||Liang, B., Bai, T., Zhao, Y., Han, J., He, X., Pu, Y., Wang, C., Liu, W., Ma, Q., Tian, K., Zheng, W., Liu, N., Liu, J., Ma, Y., Jiang, L. :|
|Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep. J Adv Res :, 2023. Pubmed reference: 37137429 . DOI: 10.1016/j.jare.2023.04.012.|
|Ma, S., Long, L., Huang, X., Tian, K., Tian, Y., Wu, C., Zhao, Z. :|
|Transcriptome analysis reveals genes associated with wool fineness in Merinos. PeerJ 11:e15327, 2023. Pubmed reference: 37250719 . DOI: 10.7717/peerj.15327.|
|Vasu, M., Ahlawat, S., Chhabra, P., Sharma, U., Arora, R., Sharma, R., Ayoub Mir, M., Kumar Singh, M. :|
|Genetic insights into fiber quality, coat color and adaptation in Changthangi and Muzzafarnagri sheep: A comparative skin transcriptome analysis. Gene :147826, 2023. Pubmed reference: 37748630 . DOI: 10.1016/j.gene.2023.147826.|
|Yue, L., Lu, Z., Guo, T., Liu, J., Yang, B., Yuan, C. :|
|Proteome analysis of Alpine Merino sheep skin reveals new insights into the mechanisms involved in regulating wool fiber diameter. Int J Mol Sci 24:, 2023. Pubmed reference: 37894908 . DOI: 10.3390/ijms242015227.|
|Yue, L., Lu, Z., Guo, T., Liu, J., Yuan, C., Yang, B. :|
|Association of SLIT3 and ZNF280B gene polymorphisms with wool fiber diameter. Animals (Basel) 13:, 2023. Pubmed reference: 38003169 . DOI: 10.3390/ani13223552.|
|Zhang, W., Jin, M., Li, T., Lu, Z., Wang, H., Yuan, Z., Wei, C. :|
|Whole-genome resequencing reveals selection signal related to sheep wool fineness. Animals (Basel) 13:, 2023. Pubmed reference: 37760343 . DOI: 10.3390/ani13182944.|
- Created by Imke Tammen2 on 06 May 2023
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- Changed by Imke Tammen2 on 05 Nov 2023