OMIA 001943-9615 : Fecundity in Canis lupus familiaris

In other species: cattle , goat

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2019

Inheritance: Torrecilha et al. (2020): "The trait [average litter size] heritability was estimated at 43.1%, from which approximately 15% was accountable by the GDF9 locus alone. Therefore, markers flanking GDF9 explained approximately 6.5% of the variance in ALS."

Molecular basis: A GWAS for average litter size (ALS) in Entlebucher Mountain dogs conducted by Torrecilha et al. (2020) highlighted the GDF9 gene, mutations in which are central to fecundity in sheep. Further investigation "revealed two missense substitutions in GDF9, one of which (g.11:21147009G>A) affected a highly conserved nucleotide in vertebrates. The derived allele A was validated in 111 dogs and shown to be associated with decreased ALS (-0.75 ± 0.22 puppies per litter). The variant was further predicted to cause a proline to serine substitution. The affected residue was immediately followed by a six-residue deletion that is fixed in the canine species but absent in non-canids. We further confirmed that the deletion is prevalent in the Canidae family by sequencing three species of wild canids. Since canids uniquely ovulate oocytes at the prophase stage of the first meiotic division, requiring maturation in the oviduct, we conjecture that the amino acid substitution and the six-residue deletion of GDF9 may serve as a model for insights into the dynamics of oocyte maturation in canids."

Breed: Entlebucher mountain dog.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GDF9 growth differentiation factor 9 Canis lupus familiaris 11 NC_006593.3 (21148945..21143982) GDF9 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.

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
Entlebucher mountain dog Fecundity GDF9 missense CanFam3.1 11 g.21,147,009G>A p.(Pro77Ser) 2020 31802524


2020 Torrecilha, R.B.P., Milanesi, M., Gallana, M., Falbo, A.K., Reichler, I.M., Hug, P., Jagannathan, V., Trigo, B.B., Paulan, S.C., Bruno, D.B., Garcia, S.D., Scaramele, N.F., Lopes, F.L., Dolf, G., Leeb, T., Sölkner, J., Garcia, J.F., Pieńkowska-Schelling, A., Schelling, C., Utsunomiya, Y.T. :
Association of missense variants in GDF9 with litter size in Entlebucher Mountain dogs. Anim Genet 51:78-86, 2020. Pubmed reference: 31802524. DOI: 10.1111/age.12882.

Edit History

  • Created by Frank Nicholas on 29 Jan 2020
  • Changed by Frank Nicholas on 29 Jan 2020