OMIA 001885-9940 : Fecundity, Lacaune, FecL in Ovis aries |
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Co-Dominant
Considered a defect:
no
Key variant known:
yes
Year key variant first reported:
2013
Species-specific symbol:
FecL
Inheritance:
A segregation analysis by Bodin et al. (2002) identified an autosomal locus of large effect on ovulation rate in the Lacaune breed: "The difference between homozygous non-carriers and heterozygous ewes was about one ovulation on the observed scale and 2.2 standard deviations on the underlying scale".
Mapping:
A genome scan with 89 microsatellites genotyped on nine half-sib families segregating at the FecL locus, conducted by Drouilhet et al. (2009), mapped the FecL locus to chromosome OAR11. Subsequent fine mapping with additional OAR11 markers "refined the location of the FecL locus to an interval of 2.1 centiMorgan (cM) between markers DLX3 and BM17132". Additional fine mapping narrowed the interval to a region showing conserved synteny with a region on human chromosome HSA17 spanning 1.1Mb and containing 20 genes.
Further fine mapping and sequencing enabled Drouilhet et al. (2013) to narrow the candidate region to 197kb.
Molecular basis: The candidate region identified by Drouilhet et al. (2013) contains three genes. Sequencing revealed two single nucleotide variants (SNVs) that segregated with the FecL mutation, one (g.36938224T>A) in intron 7 of the gene B4GALNT2 (encoding beta-1,4-N-acetyl-galactosaminyl transferase 2) and the other (g.37034573A>G) 96 kb away in an intergenic region. Expression analyses indicated "overexpression of B4GALNT2 in the ovary leading to atypical glycosylation of inhibin, an important hormone regulating ovarian function"; either or both (or neither) of the two SNVs could be causal. Importantly, the authors concluded "For the first time a fecundity gene in sheep does not belong to the TGFß/BMP signaling genes and it opens new fields of investigation regarding ovarian glycosylation and the pathogenesis of fertility disorders in women." Breed: Lacaune. Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| B4GALNT2 | beta-1,4-N-acetyl-galactosaminyl transferase 2 | Ovis aries | 11 | NC_019468.2 (36945184..36879209) | B4GALNT2 | Homologene, Ensembl, NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Lacaune | Fecundity, Lacaune, FecL | B4GALNT2 | regulatory | g.36938224T>A | 2013 | 24086150 | ||||||||
| Lacaune | Fecundity, Lacaune, FecL | B4GALNT2 | regulatory | g.37034573A>G | 2013 | 24086150 |
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 | Drouilhet, L., Mansanet, C., Sarry, J., Tabet, K., Bardou, P., Woloszyn, F., Lluch, J., Harichaux, G., Viguié, C., Monniaux, D., Bodin, L., Mulsant, P., Fabre, S. : | |
| The Highly Prolific Phenotype of Lacaune Sheep Is Associated with an Ectopic Expression of the B4GALNT2 Gene within the Ovary. PLoS Genet 9:e1003809, 2013. Pubmed reference: 24086150. DOI: 10.1371/journal.pgen.1003809. | ||
| 2010 | Drouilhet, L., Taragnat, C., Fontaine, J., Duittoz, A., Mulsant, P., Bodin, L., Fabre, S. : | |
| Endocrine characterization of the reproductive axis in highly prolific lacaune sheep homozygous for the FecLL mutation. Biol Reprod 82:815-24, 2010. Pubmed reference: 20075395. DOI: 10.1095/biolreprod.109.082065. | ||
| 2009 | Drouilhet, L., Lecerf, F., Bodin, L., Fabre, S., Mulsant, P. : | |
| Fine mapping of the FecL locus influencing prolificacy in Lacaune sheep. Anim Genet 40:804-12, 2009. Pubmed reference: 19466934. DOI: 10.1111/j.1365-2052.2009.01919.x. | ||
| 2002 | Bodin, L., SanCristobal, M., Lecerf, F., Mulsant, P., Bibé, B., Lajous, D., Belloc, J.P., Eychenne, F., Amigues, Y., Elsen, J.M. : | |
| Segregation of a major gene influencing ovulation in progeny of Lacaune meat sheep. Genet Sel Evol 34:447-64, 2002. Pubmed reference: 12270104. DOI: 10.1051/gse:2002017. |
Edit History
- Created by Frank Nicholas on 13 Oct 2013
- Changed by Frank Nicholas on 13 Oct 2013
- Changed by Frank Nicholas on 14 Nov 2013