OMIA:002306-9823 : Fecundity, BMP15-related in Sus scrofa (pig)
Categories: Reproductive system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Mapping: Flossmann et al. (2021): "A case-control GWAS involving Illumina porcine SNP60 BeadChip-called genotypes of 17 gilts with atypically small vulvae and 1818 control animals (fertile German Landrace sows) identified a significantly associated region on the X-chromosome (P = 8.81 × 10- 43)."
Molecular basis: Flossmann et al. (2021): "Inspection of whole-genome sequencing data in the critical area allowed us to pinpoint a likely causal variant in the form of a nonsense mutation of bone morphogenetic protein-15 (BMP15; Sscrofa11.1_X:g.44618787C>T, BMP15:p.R212X)"
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Flossmann et al. (2021): "Homozygous gilts exhibit underdeveloped, most likely not functional ovaries and are not fertile. Male carriers do not seem to manifest defects. Heterozygous sows produce 0.41±0.02 (P=4.5 × 10-83) piglets more than wildtype animals. However, the mutant allele's positive effect on litter size accompanies a negative impact on lean meat growth."
Prevalence: Flossmann et al. (2021): "The mutant allele occurs at a frequency of 6.2% in the German Landrace breeding population. . . . In addition to the sire of affected gilts, two German Landrace boars and one German Landrace sow were carriers of the nonsense-mutation . . . . None of the Piétrain pigs carried the mutation."
Control: Flossmann et al. (2021) "advise eradicating the mutant allele from the German Landrace breeding population since the adverse effects on the lean meat growth outweigh the larger litter size in heterozygous sows."
German Landrace (Pig) (VBO_0001138).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|BMP15||bone morphogenetic protein 15||Sus scrofa||X||NC_010461.5 (44613122..44620575)||BMP15||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|
|1281||German Landrace (Pig)||Infertility and increased litter size||BMP15||nonsense (stop-gain)||Naturally occurring variant||Sscrofa11.1||X||g.44618787C>T||p.(R212*)||"NP_001005155.2:p.R212X" (Flossmann et al., 2021)||2021||33413103|
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||Jiao, Y., Jiang, T., Lin, Q., Guo, J., Bei, C., Cong, P., Mo, D., Liu, X., Chen, Y., He, Z. :|
|Molecular characterization of the follicular development of BMP15-edited pigs. Reproduction , 2023. Pubmed reference: 37561570. DOI: 10.1530/REP-23-0034.|
|2021||Flossmann, G., Wurmser, C., Pausch, H., Tenghe, A., Dodenhoff, J., Dahinten, G., Götz, K.U., Russ, I., Fries, R. :|
|A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs. BMC Genomics 22:38, 2021. Pubmed reference: 33413103. DOI: 10.1186/s12864-020-07343-x.|
- Created by Frank Nicholas on 10 Jan 2021
- Changed by Frank Nicholas on 10 Jan 2021