OMIA:001579-9823 : Ear size in Sus scrofa (pig)
Categories: Hearing / vestibular / ear phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: no
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2011
Mapping: Major QTL for this trait were mapped on chromosomes SSC5 and SSC7 by Wei et al. (2007) and Ma et al. (2009).
Zhang et al. (2014) narrowed the QTL on SSC5 to a 450kb region containing two functional candidate genes, namely LEMD3 and WIF1.
Molecular basis: Ren et al. (2011) reported a G32E missense mutation in PPARD as the basis of the major QTL for ear size on chromosome SSC7.
Liang et al. (2019) reported a c.1167C>G missense mutation in WIF1 as the basis of the major QTL for ear size on chromosome SSC5.
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PPARD||peroxisome proliferator-activated receptor delta||Sus scrofa||7||NC_010449.5 (31222533..31295221)||PPARD||Homologene, Ensembl , NCBI gene|
|WIF1||WNT inhibitory factor 1||Sus scrofa||5||NC_010447.5 (29543913..29450442)||WIF1||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|
|173||Taihu - Erhualian, China (Pig)||Large floppy ears||PPARD||missense||Naturally occurring variant||Sscrofa11.1||7||g.31281804G>A||c.95G>A||p.(G32E)||rs80909573||rs80909573||2011||21573137||The genomic location on Sscrofa11.1 was determined and the effect was confirmed with Ensembl VEP in the following transcripts: XM_005665910.3, XM_013977808.2 by Stephanie Shields (27/05/2020)|
|1033||Large White (Pig) Min, China (Pig)||Ear size||WIF1||missense||Naturally occurring variant||Sscrofa11.1||5||g.29463165C>G||c.1167C>G||p.(F236L)||rs338733115||2019||30815903|
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||Arias, K.D., Lee, H., Bozzi, R., Álvarez, I., Gutiérrez, J.P., Fernandez, I., Menéndez, J., Beja-Pereira, A., Goyache, F. :|
|Ascertaining the genetic background of the Celtic-Iberian pig strain: A signatures of selection approach. J Anim Breed Genet , 2023. Pubmed reference: 37807719. DOI: 10.1111/jbg.12829.|
|2019||Liang, J., Zhang, Y., Wang, L., Liu, X., Yan, H., Wang, L., Zhang, L. :|
|Molecular cloning of WIF1 and HMGA2 reveals ear-preferential expression while uncovering a missense mutation associated with porcine ear size in WIF1. Anim Genet 50:157-161, 2019. Pubmed reference: 30815903. DOI: 10.1111/age.12759.|
|2015||Zhang, Y., Liang, J., Zhang, L., Wang, L., Liu, X., Yan, H., Zhao, K., Shi, H., Zhang, T., Li, N., Pu, L., Wang, L. :|
|Porcine methionine sulfoxide reductase B3: molecular cloning, tissue-specific expression profiles, and polymorphisms associated with ear size in Sus scrofa. J Anim Sci Biotechnol 6:60, 2015. Pubmed reference: 26719797. DOI: 10.1186/s40104-015-0060-x.|
|2014||Zhang, L., Liang, J., Luo, W., Liu, X., Yan, H., Zhao, K., Shi, H., Zhang, Y., Wang, L., Wang, L. :|
|Genome-wide scan reveals LEMD3 and WIF1 on SSC5 as the candidates for porcine ear size. PLoS One 9:e102085, 2014. Pubmed reference: 25006967. DOI: 10.1371/journal.pone.0102085.|
|2013||Duan, Y., Brenig, B., Wu, X., Ren, J., Huang, L. :|
|The G32E Functional Variant Reduces Activity of PPARD by Nuclear Export and Post-Translational Modification in Pigs. PLoS One 8:e75925, 2013. Pubmed reference: 24058710. DOI: 10.1371/journal.pone.0075925.|
|2011||Ren, J., Duan, Y., Qiao, R., Yao, F., Zhang, Z., Yang, B., Guo, Y., Xiao, S., Wei, R., Ouyang, Z., Ding, N., Ai, H., Huang, L. :|
|A missense mutation in PPARD causes a major QTL effect on ear size in pigs. PLoS Genet 7:e1002043, 2011. Pubmed reference: 21573137. DOI: 10.1371/journal.pgen.1002043.|
|2009||Ma, J., Qi, W., Ren, D., Duan, Y., Qiao, R., Guo, Y., Yang, Z., Li, L., Milan, D., Ren, J., Huang, L. :|
|A genome scan for quantitative trait loci affecting three ear traits in a White Duroc x Chinese Erhualian resource population. Anim Genet 40:463-7, 2009. Pubmed reference: 19392826. DOI: 10.1111/j.1365-2052.2009.01867.x.|
|2007||Wei, WH., De Koning, DJ., Penman, JC., Finlayson, HA., Archibald, AL., Haley, CS. :|
|QTL modulating ear size and erectness in pigs. Anim Genet 38:222-6, 2007. Pubmed reference: 17459018. DOI: 10.1111/j.1365-2052.2007.01591.x.|
|1982||Ollivier, L., Sellier, P. :|
|Pig genetics: a review Annales de Genetique et de Selection Animale 14:481-544, 1982.|
- Created by Frank Nicholas on 18 Jul 2011
- Changed by Frank Nicholas on 29 Aug 2011
- Changed by Frank Nicholas on 09 Dec 2011
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- Changed by Frank Nicholas on 02 Mar 2019
- Changed by Imke Tammen2 on 21 May 2020