GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002341
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
WT
Trait State in Taxon B
Fast growth in heterozygotes ; recessive lethal due to loss of BMPR expression
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
domestic pig
Synonyms
Sus domestica; Sus domesticus; Sus scrofa domestica; domestic pig
Rank
subspecies
Lineage
Show more ... hostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus; Sus scrofa
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
domestic pig
Synonyms
Sus domestica; Sus domesticus; Sus scrofa domestica; domestic pig
Rank
subspecies
Lineage
Show more ... hostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus; Sus scrofa
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Large White breed
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
100-1000 kb
Molecular Details of the Mutation
212kb deletion resulting in truncated BBS9 protein and recessive loss of neighbor gene expression BMPER
Experimental Evidence
Authors
Derks MFL; Lopes MS; Bosse M; Madsen O; Dibbits B; Harlizius B; Groenen MAM; Megens HJ
Abstract
Livestock populations can be used to study recessive defects caused by deleterious alleles. The frequency of deleterious alleles including recessive lethal alleles can stay at high or moderate frequency within a population, especially if recessive lethal alleles exhibit an advantage for favourable traits in heterozygotes. In this study, we report such 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, as observed from high increase in numbers of mummified piglets resulting from carrier-by-carrier crosses. The moderate 10.8% carrier frequency (5.4% allele frequency) in this pig population suggests an advantage on a favourable trait in heterozygotes. Indeed, heterozygous carriers exhibit increased growth rate, an important selection trait in pig breeding. Increased growth and appetite together with a lower birth weight for carriers of the BBS9 null allele in pigs is analogous to the phenotype described in human and mouse for (naturally occurring) BBS9 null-mutants. We show that fetal death, however, is induced by reduced expression of the downstream BMPER gene, an essential gene for normal foetal development. In conclusion, this study describes a lethal 212kb deletion with pleiotropic effects on two different genes, one resulting in fetal death in homozygous state (BMPER), and the other increasing growth (BBS9) in heterozygous state. We provide strong evidence for balancing selection resulting in an unexpected high frequency of a lethal allele in the population. This study shows that the large amounts of genomic and phenotypic data routinely generated in modern commercial breeding programs deliver a powerful tool to monitor and control lethal alleles much more efficiently.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@BalancingSelection @HeterozygoteAdvantage
YOUR FEEDBACK is welcome!