OMIA 002178-9823 : Abortion, BBS9-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 615986

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Molecular basis: Derks et al. (2018): identified "a recessive lethal deletion of 212kb (del) within the BBS9 gene in a breeding population of pigs. The deletion produces a truncated BBS9 protein expected to cause a complete loss-of-function, and we find a reduction of approximately 20% on the total number of piglets born from carrier by carrier matings. Homozygous del/del animals die mid- to late-gestation"

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
BBS9 Bardet-Biedl syndrome 9 Sus scrofa 18 NC_010460.3 (44336434..44115079) BBS9 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.

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-related BBS9 deletion, gross (>20) Sscrofa11.1 18 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" 2018 30231021

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 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.

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  • Created by Frank Nicholas on 21 Mar 2019