ArticlePLoS genetics2018
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Comparison of two multi-trait association testing methods and sequence-based fine mapping of six additive QTL in Swiss Large White pigs.BMC genomics · 2023Pooled it
- Structural Genomic Variation and Its Potential Role in Deer Speciation.Molecular ecology · 2026Article
- Deficiency in homozygous haplotypes reveals recessive lethal variants affecting fertility and viability in the Friesian horse.BMC genomics · 2026Article
- Transposable elements contribute substantially to naturally occurring genetic lethality in Drosophila melanogaster.PLoS biology · 2026Article
- Effects of ACOT7 gene variants on productive performance in Qiandongnan small Xiang goats.Scientific reports · 2025Article
- Latitude-driven adaptive evolution of body length in diverse pig breeds across China.BMC biology · 2025Article
- Genome-Wide Association Study of Body Size Traits in Luning Chickens Using Whole-Genome Sequencing.Animals : an open access journal from MDPI · 2025Article
- Pangenome Reveals Gene Content Variations and Structural Variants Contributing to Pig Characteristics.Genomics, proteomics & bioinformatics · 2025Article
- Novel genotyping assay for a 212-kb deletion from theJournal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2024Article
- Identification of conserved skeletal enhancers associated with craniosynostosis risk genes.Human molecular genetics · 2024Article
- Purifying and balancing selection on embryonic semi-lethal haplotypes in a wild mammal.Evolution letters · 2024Article
- Sequenced-based GWAS for linear classification traits in Belgian Blue beef cattle reveals new coding variants in genes regulating body size in mammals.Genetics, selection, evolution : GSE · 2023Article
- AgAnimalGenomes: browsers for viewing and manually annotating farm animal genomes.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Accurate haplotype construction and detection of selection signatures enabled by high quality pig genome sequences.Nature communications · 2023Article
- High-resolution structural variants catalogue in a large-scale whole genome sequenced bovine family cohort data.BMC genomics · 2023Article
- Performance of Swedish Warmblood fragile foal syndrome carriers and breeding prospects.Genetics, selection, evolution : GSE · 2022Article
- Heterozygosity and homozygosity regions affect reproductive success and the loss of reproduction: A case study with litter traits in pigs.Computational and structural biotechnology journal · 2022Article
- Identification of Homozygous Regions With Adverse Effects on the Five Economic Traits of Duroc Pigs.Frontiers in veterinary science · 2022Article
- Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success.Genetics, selection, evolution : GSE · 2021Article
- Identification of homozygous haplotypes carrying putative recessive lethal mutations that compromise fertility traits in French Lacaune dairy sheep.Genetics, selection, evolution : GSE · 2021Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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