OMIA 001799-9940 : Fecundity, Olkuska, FecX(O) in Ovis aries

Possibly relevant human trait(s) and/or gene(s) (MIM number): 300510

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2013

Species-specific symbol: FecX(O)

Mapping: Demars et al. (2013) conducted a GWAS by genotyping 29 hyper-prolific and 34 control Polish Olkuska ewes with the Illumina OvineSNP50 chip. A single region on the X chromosome, including the prolificacy gene BMP15, was highlighted. BMP15 was thus a highly likely positional candidate gene.

Molecular basis: Following the results described in the Mapping section, sequencing of BMP15 revealed six polymorphisms, one of which (1009A>C; N337H) was strongly associated with ovulation rate. Genotyping of this polymorphism in additional randomly chosen ewes confirmed the effect, with CC homozygotes having an average ovulation rate of 3.28 compared with 2.02 for CA and 1.52 for AA ewes, with corresponding averages for litter size being 3.05 for CC, 2.46 for CA and 1.84 for AA (Demars et al., 2013). Interestingly, the authors note that the high fecundity of homozygous mutant (CC) ewes is "in striking contrast with the sterility exhibited by all other known homozygous BMP15 mutations".

Control: Even though this trait is not regarded as a disorder, it is worth noting that in some situations, farmers prefer to not have prolific ewes. The discovery of the DNA basis of this form of prolificacy should enable breeders to better plan matings so as to avoid producing such ewes. (text written by FN, with thanks to Julie Demars)

Breed: Olkuska.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
BMP15 bone morphogenetic protein 15 Ovis aries X NC_040278.1 (56601245..56594761) BMP15 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 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
Olkuska Fecundity, Olkuska BMP15 FecX(O) missense Oar_rambouillet_v1.0 X g.56594934T>G c.1009A>C p.(N337H) Protein and cDNA positions based on NP_001108239.1 and NM_001114767.1, respectively. 2013 23637641 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.


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.
2013 Demars, J., Fabre, S., Sarry, J., Rossetti, R., Gilbert, H., Persani, L., Tosser-Klopp, G., Mulsant, P., Nowak, Z., Drobik, W., Martyniuk, E., Bodin, L. :
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyperprolificacy phenotype in sheep. PLoS Genet 9:e1003482, 2013. Pubmed reference: 23637641. DOI: 10.1371/journal.pgen.1003482.
Juengel, J.L., Davis, G.H., McNatty, K.P. :
Using sheep lines with mutations in single genes to better understand ovarian function. Reproduction 146:R111-23, 2013. Pubmed reference: 23801782. DOI: 10.1530/REP-12-0509.

Edit History

  • Created by Frank Nicholas on 04 May 2013
  • Changed by Frank Nicholas on 04 May 2013
  • Changed by Frank Nicholas on 16 May 2013