OMIA 000384-9940 : Fecundity, Galway, FecX(G) 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: 2004

Species-specific symbol: FecX(G)

Species-specific description: A segregation analysis of data from a flock of 549 Cambridge ewes maintained at the University of Wales, Bangor, indicated the presence of a gene of major effect on ovulation rate (number of ova shed), with a difference in performance between homozygotes ranging from 2.14 to 3.44 (Owen et al., 1990).

Inheritance: Contrary to initial segregation analyses that suggested a single gene determining fecundity in this breed, later analyses suggested two loci (Hanrahan et al., 2004).

Molecular basis: Adopting a candidate-gene approach, Hanrahan et al. (2004) showed increased fecundity in heterozygotes and sterility in homozygotes associated with a 718C>T base substitution in the X-linked BMP15 gene and with a 1184C>T base substitution in the autosomal GDF9 gene, resulting in amino-acid substitutions Q239X and S395F, respectively. The former mutation is now called FecX(G) and the latter FecG(H).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
BMP15 bone morphogenetic protein 15 Ovis aries X NC_019484.2 (50986718..50980229) BMP15 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Irish Cambridge High fecundity BMP15 nonsense (stop-gain) c.718C>T p.Q239* 2004 14627550

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.
Mullen, M.P., Hanrahan, J.P., Howard, D.J., Powell, R. :
Investigation of prolific sheep from UK and Ireland for evidence on origin of the mutations in BMP15 (FecX(G), FecX(B)) and GDF9 (FecG(H)) in Belclare and Cambridge sheep. PLoS One 8:e53172, 2013. Pubmed reference: 23301039. DOI: 10.1371/journal.pone.0053172.
2007 Chu, MX., Liu, ZH., Jiao, CL., He, YQ., Fang, L., Ye, SC., Chen, GH., Wang, JY. :
Mutations in BMPR-IB and BMP-15 genes are associated with litter size in Small Tailed Han sheep (Ovis aries). J Anim Sci 85:598-603, 2007. Pubmed reference: 17040942. DOI: 10.2527/jas.2006-324.
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.
Hanrahan, JP., Gregan, SM., Mulsant, P., Mullen, M., Davis, GH., Powell, R., Galloway, SM. :
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both increased ovulation rate and sterility in Cambridge and Belclare sheep (Ovis aries). Biol Reprod 70:900-9, 2004. Pubmed reference: 14627550. DOI: 10.1095/biolreprod.103.023093.
Juengel, JL., Bodensteiner, KJ., Heath, DA., Hudson, NL., Moeller, CL., Smith, P., Galloway, SM., Davis, GH., Sawyer, HR., McNatty, KP. :
Physiology of GDF9 and BMP15 signalling molecules. Anim Reprod Sci 82-83:447-60, 2004. Pubmed reference: 15271472. DOI: 10.1016/j.anireprosci.2004.04.021.
Souza, C.J., González-Bulnes, A., Campbell, B.K., McNeilly, A.S., Baird, D.T. :
Mechanisms of action of the principal prolific genes and their application to sheep production. Reprod Fertil Dev 16:395-401, 2004. Pubmed reference: 15315738. DOI: 10.10371/RD04038.
2001 Montgomery, G.W., Galloway, S.M., Davis, G.H., McNatty, K.P. :
Genes controlling ovulation rate in sheep Reproduction 121:843-852, 2001. Pubmed reference: 11373170.
2000 Mandiki, S.N.M., Noel, B., Bister, J.L., Peeters, R., Beerlandt, G., Decuypere, E., Visscher, A., Suess, R., Kaulfuss, K.H., Paquay, R. :
Pre-ovulatory follicular characteristics and ovulation rates in different breed crosses, carriers or non-carriers of the Booroola or Cambridge fecundity gene Animal Reproduction Science 63:77-88, 2000. Pubmed reference: 10967242.
1997 Ap Dewi, I., Owen, J.B., Axford, R.F.E., Beiginassiri, M.T. :
Selection for high and low prolificacy in Cambridge sheep Animal Science 65:209-215, 1997.
Glazko, V.I., Owen, J.B., Apdewi, I., Axford, R.F.E. :
An association of haemoglobin protein (hbb) with ovulation rate in Cambridge sheep Animal Science 64:279-282, 1997.
1990 Owen, J.B., Whitaker, C.J., Axford, R.F.E., Dewi, I.A. :
Expected Consequences of the Segregation of a Major Gene in a Sheep Population in Relation to Observations on the Ovulation Rate of a Flock of Cambridge Sheep Animal Production 51:277-282, 1990.
1989 Hanrahan, J.P., Owen, J.B. :
Single gene effects on ovulation rate in Cambrideg ewes Proceedings of the 40th Annual Meeting, European Association of Animal Production, Summaries 1:65 only (abstract), 1989.
1985 Hanrahan, J.P., Owen, J.B. :
Variation and repeatability of ovulation rate in Cambridge ewes Animal Production 40:529 only (abstract), 1985.

Edit History


  • Created by Frank Nicholas on 22 Aug 2006
  • Changed by Frank Nicholas on 29 Aug 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 17 Oct 2012
  • Changed by Frank Nicholas on 04 May 2013