OMIA 001357-9940 : Fecundity, Lacaune, FecX(L) 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: 2007

Species-specific symbol: FecX(L)

Molecular basis: Bodin et al. (2007) reported a causal mutation as "a C53Y missense nonconservative substitution [in BMP15] leading to the aminoacidic change of a cysteine with a tyrosine in the mature peptide of the protein. As for other mutations found in the same gene, this is associated with an increased ovulation rate and sterility in heterozygous and homozygous animals, respectively. Further in vitro studies showed that the C53Y mutation was responsible for the impairment of the maturation process of the BMP15 protein, resulting in a defective secretion of both the precursor and mature peptide".

Breed: Lacaune.

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
Lacaune Fecundity, Lacaune, FecX(L) BMP15 missense c.G>A p.C321Y 2007 17038554

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.
2007 Bodin, L., Di Pasquale, E., Fabre, S., Bontoux, M., Monget, P., Persani, L., Mulsant, P. :
A novel mutation in the bone morphogenetic protein 15 gene causing defective protein secretion is associated with both increased ovulation rate and sterility in Lacaune sheep. Endocrinology 148:393-400, 2007. Pubmed reference: 17038554. DOI: 10.1210/en.2006-0764.
2005 Davis, GH. :
Major genes affecting ovulation rate in sheep. Genet Sel Evol 37 Suppl 1:S11-23, 2005. Pubmed reference: 15601592. DOI: 10.1051/gse:2004026.
2004 Davis, GH. :
Fecundity genes in sheep. Anim Reprod Sci 82-83:247-53, 2004. Pubmed reference: 15271457. DOI: 10.1016/j.anireprosci.2004.04.001.

Edit History


  • Created by Frank Nicholas on 13 Jul 2009
  • Changed by Frank Nicholas on 29 Aug 2012
  • Changed by Frank Nicholas on 18 Dec 2012
  • Changed by Frank Nicholas on 04 May 2013
  • Changed by Frank Nicholas on 13 Oct 2013