OMIA 001350-9940 : Fecundity, Hanna, FecX(H) 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: 2000

Species-specific symbol: FecX(H)

History: The first report of this gene for fecundity was by Davis et al. (1994, 1995).

Mapping: As reported by Davis et al. (1995), "Crossing FecXI with FecXH animals produces FecXI/FecXH infertile females phenotypically indistinguishable from FecXI/FecXI females", suggesting that FecXI and FecXH are allelic at a single X-linked locus.

Molecular basis: Armed with the strong assumption that FecX(H) is allelic with FecX(I) (see Mapping section above), and having identified BMP15 as a strong comparative positional candidate gene for FecX(I), Galloway et al. (2000) showed that the causative mutation for FecX(H) is a "single C→T transition at nucleotide position 67 of the mature peptide coding region of FecXH carriers [which] introduces a premature stop codon in the place of glutamic acid (Q) at amino-acid residue 23 (residue 291 of the unprocessed protein) . . . Such premature truncation probably results in complete loss of BMP15 function."

Breed: Romney Marsh.

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
Romney Marsh High fecundity BMP15 nonsense (stop-gain) c.1184C>T p.Q291* 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.
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.
Moore, RK., Shimasaki, S. :
Molecular biology and physiological role of the oocyte factor, BMP-15. Mol Cell Endocrinol 234:67-73, 2005. Pubmed reference: 15836954. DOI: 10.1016/j.mce.2004.10.012.
2004 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.
2002 Galloway, S.M., Gregan, S.M., Wilson, T., McNatty, K.P., Juengel, J.L., Ritvos, O., Davis, G.H. :
Bmp15 mutations and ovarian function. Mol Cell Endocrinol 191:15-8, 2002. Pubmed reference: 12044914.
Monget, P., Fabre, S., Mulsant, P., Lecerf, F., Elsen, J.M., Mazerbourg, S., Pisselet, C., Monniaux, D. :
Regulation of ovarian folliculogenesis by IGF and BMP system in domestic animals. Domest Anim Endocrinol 23:139-54, 2002. Pubmed reference: 12142233.
2001 McNatty, K.P., Juengel, J.L., Wilson, T., Galloway, S.M., Davis, G.H. :
Genetic mutations influencing ovulation rate in sheep Reproduction, Fertility and Development 13:549-555, 2001. Pubmed reference: 11999305.
2000 Galloway, S.M., McNatty, K.P., Cambridge, L.M., Laitinen, M.P.E., Juengel, J.L., Jokiranta, T.S., McLaren, R.J., Luiro, K., Dodds, K.G., Montgomery, G.W., Beattie, A.E., Davis, G.H., Ritvos, O. :
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner Nature Genetics 25:279-283, 2000. Pubmed reference: 10888873. DOI: 10.1038/77033.
1995 Davis, G.H., McEwan, J.C., Fennessy, P.F., Dodds, K.G. :
Discovery of the Inverdale gene (FecX) Proceedings of the New Zealand Society of Animal Production 55:289-290, 1995.
1994 Davis, G.H., Bruce, G.D., Reid, P.J. :
Breeding implications of the streak ovary condition in homozygous FecXI/FecXI Inverdale sheep Proceedings of the 5th World Congress on Genetics Applied to Livestock Production 19:249–252, 1994.

Edit History


  • Created by Frank Nicholas on 15 Nov 2005
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 17 Sep 2012
  • Changed by Frank Nicholas on 11 Dec 2017