OMIA 002306-9823 : Fecundity, BMP15-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 300247 , 300510

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)"

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."

Breed: German Landrace.

Associated gene:

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

Variants

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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.

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
German Landrace Infertility and increased litter size BMP15 nonsense (stop-gain) Sscrofa11.1 X g.44618787C>T p.R212X "NP_001005155.2:p.R212X" (Flossmann et al., 2021) 2021 33413103

Reference


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.

Edit History


  • Created by Frank Nicholas on 10 Jan 2021
  • Changed by Frank Nicholas on 10 Jan 2021