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.
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|
|1049||Large White||Abortion, BBS9 and BMPER-related||BBS9||deletion, gross (>20)||Naturally occurring variant||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.
|2021||Derks, M.F.L., Steensma, M. :|
|Review: Balancing selection for deleterious alleles in livestock. Front Genet 12:761728, 2021. Pubmed reference: 34925454. DOI: 10.3389/fgene.2021.761728.|
|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
- Changed by Imke Tammen2 on 27 May 2021
- Changed by Imke Tammen2 on 24 Aug 2021