OMIA 002178-9823 : Abortion, BBS9 and BMPER-related in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|BMPER||BMP binding endothelial regulator||Sus scrofa||18||NC_010460.4 (39664010..39417830)||BMPER||Homologene, Ensembl, NCBI gene|
|BBS9||Bardet-Biedl syndrome 9||Sus scrofa||18||NC_010460.3 (44336434..44115079)||BBS9||Homologene, Ensembl, NCBI gene|
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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|
|Large White||Abortion, BBS9 and BMPER-related||BBS9||deletion, gross (>20)||Sscrofa11.1||18||g.39817373_40029300del||Derks et al. (2018): "a large deletion in complete LD with the SSC18 haplotype of approximately 212kb (position 39,817,373 to 40,029,300), spanning a part of the BBS9 gene ... [and reducing] expression of the downstream BMPER gene"||2018||30231021|
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||Derks, M.F.L., Lopes, M.S., Bosse, M., Madsen, O., Dibbits, B., Harlizius, B., Groenen, M.A.M., Megens, H.J. :|
|Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. PLoS Genet 14:e1007661, 2018. Pubmed reference: 30231021. DOI: 10.1371/journal.pgen.1007661.|
|2017||Derks, M.F.L., Megens, H.J., Bosse, M., Lopes, M.S., Harlizius, B., Groenen, M.A.M. :|
|A systematic survey to identify lethal recessive variation in highly managed pig populations. BMC Genomics 18:858, 2017. Pubmed reference: 29121877. DOI: 10.1186/s12864-017-4278-1.|
- Created by Frank Nicholas on 21 Mar 2019
- Changed by Imke Tammen2 on 18 Apr 2021