OMIA 001579-9823 : Ear size in Sus scrofa

In other species: sheep

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600409 (gene) , 605186 (gene)

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.

Associated genes:

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

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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Chinese Erhualian Large floppy ears PPARD missense 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)
Large White Minzhu Ear size WIF1 missense Sscrofa11.1 5 g.29463165C>G c.1167C>G p.(F236L) rs338733115 2019 30815903

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.
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.

Edit History


  • Created by Frank Nicholas on 18 Jul 2011
  • Changed by Frank Nicholas on 29 Aug 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 13 Apr 2016
  • Changed by Frank Nicholas on 02 Mar 2019
  • Changed by Imke Tammen2 on 21 May 2020