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OMIA 001885-9940 : Fecundity, B4GALNT2-related in Ovis aries

Possibly relevant human trait(s) and/or gene(s) (MIM number): 111730 (gene)

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_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
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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.

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  • Created by Frank Nicholas on 13 Oct 2013
  • Changed by Frank Nicholas on 13 Oct 2013
  • Changed by Frank Nicholas on 14 Nov 2013