OMIA 001800-9940 : Fecundity, Rasa Aragonesa, FecX(R) 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: 2008

Species-specific symbol: FecX(R)

Molecular basis: Martinez-Royo et al. (2008) reported "a new naturally occurring mutation in the BMP15 gene from the ovine Rasa Aragonesa breed is described. This mutation is a deletion of 17 bp that leads to an altered amino acid sequence and introduces a premature stop codon in the protein. Highly significant associations (P < 0.0001) were found between the estimated breeding value for prolificacy and the genotype of BMP15 in Rasa Aragonesa animals with high and low breeding values for this trait. As for other mutations in BMP15, this new mutation is associated with increased prolificacy and sterility in heterozygous and homozygous ewes respectively".

Breed: Rasa Aragonesa.

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

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
Rasa Aragonesa Fecundity, Rasa Aragonesa, FecX® BMP15 deletion, small (<=20) c.525_541del17 p.Pro45Asnfs*54 2008 18355397

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.
2013 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.
2011 Lahoz, B., Alabart, J.L., Jurado, J.J., Calvo, J.H., Martínez-Royo, A., Fantova, E., Folch, J. :
Effect of the FecX(R) polymorphism in the bone morphogenetic protein 15 gene on natural or equine chorionic gonadotropin-induced ovulation rate and litter size in Rasa Aragonesa ewes and implications for on-farm application. J Anim Sci 89:3522-30, 2011. Pubmed reference: 21622876. DOI: 10.2527/jas.2010-3828.
2009 Martinez-Royo, A., Dervishi, E., Alabart, J.L., Jurado, J.J., Folch, J., Calvo, J.H. :
Freemartinism and FecXR allele determination in replacement ewes of the Rasa Aragonesa sheep breed by duplex PCR. Theriogenology 72:1148-52, 2009. Pubmed reference: 19773062. DOI: 10.1016/j.theriogenology.2009.06.029.
Monteagudo, L.V., Ponz, R., Tejedor, M.T., Laviña, A., Sierra, I. :
A 17 bp deletion in the Bone Morphogenetic Protein 15 (BMP15) gene is associated to increased prolificacy in the Rasa Aragonesa sheep breed. Anim Reprod Sci 110:139-46, 2009. Pubmed reference: 18282670. DOI: 10.1016/j.anireprosci.2008.01.005.
2008 Martinez-Royo, A., Jurado, J.J., Smulders, J.P., Martí, J.I., Alabart, J.L., Roche, A., Fantova, E., Bodin, L., Mulsant, P., Serrano, M., Folch, J., Calvo, J.H. :
A deletion in the bone morphogenetic protein 15 gene causes sterility and increased prolificacy in Rasa Aragonesa sheep. Anim Genet 39:294-7, 2008. Pubmed reference: 18355397. DOI: 10.1111/j.1365-2052.2008.01707.x.

Edit History


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