OMIA 001885-9940 : Fecundity, B4GALNT2-related in Ovis aries |
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_056064.1 (37193768..37120293) | B4GALNT2 | 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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
439 | Lacaune | Fecundity, Lacaune, FecL | B4GALNT2 | regulatory | Naturally occurring variant | Oar_v3.1 | 11 | g.36938224T>A | c.766+2831A>T | ENSOART00000006875.1:c.766+2831A>T ENSOART00000006877.1:c.781+2831A>T | rs588626728 | 2013 | 24086150 | ||||
440 | Lacaune | Fecundity, Lacaune, FecL | B4GALNT2 | regulatory | Naturally occurring variant | Oar_v3.1 | 11 | 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.
2018 | Guo, X., Wang, X., Liang, B., Di, R., Liu, Q., Hu, W., He, X., Zhang, J., Zhang, X., Chu, M. : | |
Molecular cloning of the B4GALNT2 gene and its single nucleotide polymorphisms association with litter size in small tail Han sheep. Animals (Basel) 8:, 2018. Pubmed reference: 30241280. DOI: 10.3390/ani8100160. | ||
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