ArticlePLoS genetics2019
Loss of function mutations in essential genes cause embryonic lethality in pigs.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 73 citations in OpenAlex.
- 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
- That's So Last Season: Unraveling the Genomic Consequences of Fur Farming in Arctic Foxes (Vulpes lagopus).Molecular ecology · 2025Article
- Multi-dimensional annotation of porcine variants using genomic and epigenomic features in pigs.BMC biology · 2025Article
- The effects of runs-of-homozygosity on pig domestication and breeding.BMC genomics · 2025Article
- Purifying and balancing selection on embryonic semi-lethal haplotypes in a wild mammal.Evolution letters · 2024Article
- Next-generation sequencing uncovers crucial mutated genes and potential therapeutic targets in ovarian cancer patients.American journal of translational research · 2024Article
- Large scale sequence-based screen for recessive variants allows for identification and monitoring of rare deleterious variants in pigs.PLoS genetics · 2024Article
- Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.Nature communications · 2023Article
- Whole-genome sequence association study identifies cyclin dependent kinase 8 as a key gene for the number of mummified piglets.Animal bioscience · 2023Article
- Genetic load: genomic estimates and applications in non-model animals.Nature reviews. Genetics · 2022Review
- Development and validation of a horse reference panel for genotype imputation.Genetics, selection, evolution : GSE · 2022Article
- Rare and population-specific functional variation across pig lines.Genetics, selection, evolution : GSE · 2022Article
- Comparison of the choice of animals for re-sequencing in two maternal pig lines.Genetics, selection, evolution : GSE · 2022Article
- Performance of Swedish Warmblood fragile foal syndrome carriers and breeding prospects.Genetics, selection, evolution : GSE · 2022Article
- Challenges in quantifying genome erosion for conservation.Frontiers in genetics · 2022Review
- A natural knockout of the MYO7A gene leads to pre-weaning mortality in pigs.Animal genetics · 2021Article
- Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases.International journal of molecular sciences · 2021Review
- Genetic consequences of long-term small effective population size in the critically endangered pygmy hog.Evolutionary applications · 2021Article
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Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lethal recessive alleles cause pre- or postnatal death in homozygous affected individuals, reducing fertility. Especially in small size domestic and wild populations, those alleles might be exposed by inbreeding, caused by matings between related parents that inherited the same recessive lethal allele from a common ancestor. In this study we report five relatively common (up to 13.4% carrier frequency) recessive lethal haplotypes in two commercial pig populations. The lethal haplotypes have a large effect on carrier-by-carrier matings, decreasing litter sizes by 15.1 to 21.6%. The causal mutations are of different type including two splice-site variants (affecting POLR1B and TADA2A genes), one frameshift (URB1), and one missense (PNKP) variant, resulting in a complete loss-of-function of these essential genes. The recessive lethal alleles affect up to 2.9% of the litters within a single population and are responsible for the death of 0.52% of the total population of embryos. Moreover, we provide compelling evidence that the identified embryonic lethal alleles contribute to the observed heterosis effect for fertility (i.e. larger litters in crossbred offspring). Together, this work marks specific recessive lethal variation describing its functional consequences at the molecular, phenotypic, and population level, providing a unique model to better understand fertility and heterosis in livestock.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.