OMIA:000319-9823 : Ears, folded (drop vs prick) in Sus scrofa (pig)
Categories: Hearing / vestibular / ear phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 113500 (trait) , 606835 (trait) , 606071 (trait) , 156530 (trait) , 168400 (trait) , 181405 (trait) , 184095 (trait) , 600175 (trait) , 184252 (trait) , 605427 (gene) , 613719 (gene) , 613718 (trait) , 617383 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2018
Mapping: Wilkinson et al. (2013) identified a region (31.74–33.78 Mb) on chromosome SSC5 making a major contribution to ear type.
Molecular basis: By closely examining the candidate region on chromosome SSC5, Chen et al. (2018) "identified a 38.7-kb copy number variation (CNV) that affects the last two exons of MSRB3" as a likely causal variant for ear size, and hence whether or not ears are folded. The authors reported that "The presence of this CNV results in an increase in the expression of [the microRNA] miR-584-5p, which inhibits the expression of its target gene MSRB3, which affects porcine ear size".
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|
|MSRB3||methionine sulfoxide reductase B3||Sus scrofa||5||NC_010447.5 (29695824..29863601)||MSRB3||Homologene, Ensembl , NCBI gene|
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
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|
|1189||Ear size||MSRB3||repeat variation||Naturally occurring variant||Sscrofa11.1||5||"the 38.7-kb CNV . . . starts at 349,577 bp and ends at 388,246 bp of the corrected contig (MK028166) . . . , covering the last two exons 6 and 7 of the MSRB3 gene" (Chen et al., 2018)||2018||30587124|
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.
|2022||Zheng, S., Xu, P., Wu, Z., Zhang, H., Li, D., Liu, S., Liu, B., Ren, J., Chen, H., Huang, M. :|
|Genetic structure and domestication footprints of the tusk, coat color, and ear morphology in East Chinese pigs. J Genet Genomics 49:1053-1063, 2022. Pubmed reference: 35413463. DOI: 10.1016/j.jgg.2022.03.011.|
|2020||Xu, J., Fu, Y., Hu, Y., Yin, L., Tang, Z., Yin, D., Zhu, M., Yu, M., Li, X., Zhou, Y., Zhao, S., Liu, X. :|
|Whole genome variants across 57 pig breeds enable comprehensive identification of genetic signatures that underlie breed features. J Anim Sci Biotechnol 11:115, 2020. Pubmed reference: 33292532. DOI: 10.1186/s40104-020-00520-8.|
|2018||Chen, C., Liu, C., Xiong, X., Fang, S., Yang, H., Zhang, Z., Ren, J., Guo, Y., Huang, L. :|
|Copy number variation in the MSRB3 gene enlarges porcine ear size through a mechanism involving miR-584-5p. Genet Sel Evol 50:72, 2018. Pubmed reference: 30587124. DOI: 10.1186/s12711-018-0442-6.|
|2017||Zhang, L.C., Liang, J., Pu, L., Zhang, Y.B., Wang, L.G., Liu, X., Yan, H., Wang, L.X. :|
|mRNA and protein expression levels of four candidate genes for ear size in Erhualian and Large White pigs. Genet Mol Res 16, 2017. Pubmed reference: 28407177. DOI: 10.4238/gmr16029252.|
|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.|
|2013||Wilkinson, S., Lu, Z.H., Megens, H.J., Archibald, A.L., Haley, C., Jackson, I.J., Groenen, M.A., Crooijmans, R.P., Ogden, R., Wiener, P. :|
|Signatures of diversifying selection in European pig breeds. PLoS Genet 9:e1003453, 2013. Pubmed reference: 23637623. DOI: 10.1371/journal.pgen.1003453.|
- Created by Frank Nicholas on 19 Apr 2020
- Changed by Frank Nicholas on 19 Apr 2020