OMIA 000319-9823 : Ears, folded (drop vs prick) in Sus scrofa

In other species: domestic cat , dog , sheep

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 113500 , 606835 , 606071 , 156530 , 168400 , 181405 , 184095 , 600175 , 184252

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".

Associated gene:

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

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 Year Published PubMed ID(s) Acknowledgements
Ear size MSRB3 repeat variation 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

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.
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.

Edit History


  • Created by Frank Nicholas on 19 Apr 2020
  • Changed by Frank Nicholas on 19 Apr 2020