OMIA:002687-9940 : Fleece variation (fine vs coarse) in Ovis aries (sheep)

In other species: goat , rabbit , alpaca

Categories: Integument (skin) phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 608248 (gene) , 194300 (trait) , 604095 (gene) , 612630 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: fibre diameter variation of hair/wool

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."
Yu et al. (2024) "analysed the expression, localization, and polymorphism of the K84 gene (KRT84) in Gansu Alpine Fine-wool sheep ... . Analyses revealed an association between [KRT84] haplotype combinations (diplotypes) and the mean fibre curvature, mean staple length, mean staple strength, mean fibre diameter, the coefficient of variation of fibre diameter, and comfort factor."

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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated genes:

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 rs408766096 2024 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 rs427563779 2024 37137429

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002687-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2024 Ahlawat, S., Vasu, M., Mir, M.A., Singh, M.K., Arora, R., Sharma, R., Chhabra, P., Sharma, U. :
Molecular insights into Pashmina fiber production: comparative skin transcriptomic analysis of Changthangi goats and sheep. Mamm Genome , 2024. Pubmed reference: 38589518. DOI: 10.1007/s00335-024-10040-9.
Li, C., He, X., Wu, Y., Li, J., Zhang, R., An, X., Yue, Y. :
Single-cell transcriptome sequence profiling on the morphogenesis of secondary hair follicles in Ordos fine-wool sheep. Int J Mol Sci 25:584, 2024. Pubmed reference: 38203755. DOI: 10.3390/ijms25010584.
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 57:S2090-1232(23)00118-2:1-13, 2024. Pubmed reference: 37137429. DOI: 10.1016/j.jare.2023.04.012.
Sun, X., Guo, J., Li, R., Zhang, H., Zhang, Y., Liu, G.E., Emu, Q., Zhang, H. :
Whole-genome resequencing reveals genetic diversity and wool trait-related genes in Liangshan semi-fine-wool sheep. Animals (Basel) 14:444, 2024. Pubmed reference: 38338087. DOI: 10.3390/ani14030444.
Yu, X., Li, S., Zhou, H., Zhao, F., Hu, J., Wang, J., Liu, X., Li, M., Zhao, Z., Hao, Z., Shi, B., Hickford, J.G.H. :
Spatiotemporal expression and haplotypes identification of KRT84 gene and their association with wool traits in Gansu Alpine fine-wool sheep. Genes (Basel) 15:248, 2024. Pubmed reference: 38397237. DOI: 10.3390/genes15020248.
2023 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.
Smith, E.G., Walkom, S.F., Clark, S.A. :
Exploring genetic variation in potential indicators of resilience in sheep using fibre diameter measured along the wool staple. Animal 18:S1751-7311(23)00382-8:101065, 2023. Pubmed reference: 38237476. DOI: 10.1016/j.animal.2023.101065.
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.
Xiao, T., Li, Y., Yue, L., Lu, Z., Yuan, C., Song, Y., Yang, B., Liu, J., Guo, T. :
Correlation of 20 single-nucleotide polymorphisms with weight and wool traits in Alpine Merino sheep. Animals (Basel) 14:127, 2023. Pubmed reference: 38200858. DOI: 10.3390/ani14010127.
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.

Edit History

  • Created by Imke Tammen2 on 06 May 2023
  • Changed by Imke Tammen2 on 06 May 2023
  • Changed by Imke Tammen2 on 17 Jul 2023
  • Changed by Imke Tammen2 on 05 Nov 2023
  • Changed by Imke Tammen2 on 09 Apr 2024