OMIA 001559-9940 : Fecundity, Embrapa, FecG(E) in Ovis aries

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601918

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2011

Molecular basis: Silva et al. (2011) reported a missense mutation (c.1034T>G; p.Phe345Cys) in the GDF9 gene giving rise to increases of 82% and 58% for ovulation rate and prolificacy, respectively, compared with homozygous wild-type.

Breed: Embrapa.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GDF9 growth differentiation factor 9 Ovis aries 5 NC_040256.1 (46547527..46544800) GDF9 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
Brazilian Santa InĂªs Fecundity, Embrapa, FecG GDF9 missense Oar_v3.1 5 g.41841362T>G c.1034T>G p.F345C 2011 20528846 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
Shabir, M., Ganai, T.A., Misra, S.S., Shah, R., Ahmad, T. :
Polymorphism study of growth differentiation factor 9B (GDF9B) gene and its association with reproductive traits in sheep. Gene 515:432-8, 2013. Pubmed reference: 23266806. DOI: 10.1016/j.gene.2012.12.018.
2011 Silva, BD., Castro, EA., Souza, CJ., Paiva, SR., Sartori, R., Franco, MM., Azevedo, HC., Silva, TA., Vieira, AM., Neves, JP., Melo, EO. :
A new polymorphism in the Growth and Differentiation Factor 9 (GDF9) gene is associated with increased ovulation rate and prolificacy in homozygous sheep. Anim Genet 42:89-92, 2011. Pubmed reference: 20528846. DOI: 10.1111/j.1365-2052.2010.02078.x.

Edit History


  • Created by Frank Nicholas on 22 Mar 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 28 Jun 2013