bioRxiv Science⌕ Search

bioRxiv · 10.1101/2025.06.10.658284

Integrating three genetic dimensions relating to piglet birth weight: direct and maternal effects on the mean and genetic control of residual variance

Abstract

Uniformity of production traits is desired for different traits in livestock species, including the uniformity of within-litter birth weights in piglets. Birth weight (BW) in pigs is associated with increased vitality and survival until weaning. However, as uniformity of BW increases, the importance of initial weight decreases as competition between piglets decreases. The aim of this study was to estimate the direct and maternal genetic components of BW, jointly with the maternal genetic component of the residual variance for within-litter BW, and their genetic correlations. We used two distinct datasets of Swiss Large White pigs: 1) the experimental farm dataset and 2) the commercial farms dataset, comprising 43,135 and 23,313 records of individual piglet birth weight, respectively. For statistical analysis, the heteroscedastic (or canalising selection) model was used. This model assumes that both the mean BW and the residual variance are affected by systematic and random effects, with the residual variance being heterogeneous and partially under genetic control. Despite the best fitting model was the most complex one including both genetic effects for the mean trait, the results indicated that direct genetic effects, or correlations with such effects, are negligible. The genetic environmental variance for BW ranged between 0.071 and 0.131 for experimental farm and 0.037 to 0.094. The genetic correlation between the mean BW and its variability was always positive and ranged between 0.149 and 0.307 for the experimental farm and between 0.220 and 0.589 for the commercial farms. It is thus sufficient to model BW and its variability by including only the maternal genetic effect for both traits. In addition, even though moderate genetic correlations exist between the mean and the variance of BW, focusing selection on BW uniformity within litters would be preferable to creating a selection index for both traits simultaneously. ImplicationsMonitoring within-litter birth weight variability is important for efficient piglet production and welfare. Our findings suggest that maternal genetic effects are sufficient to model birth weight and its variability as genetic components of environmental variance. For both traits, direct genetic variance and its correlations with other components are negligible. However, since there are moderate genetic correlations between the mean and variance of birth weight, it is preferable to focus solely on selecting for within-litter birth weight uniformity rather than combining both traits in the selection index. This approach simplifies breeding strategies while maintaining the goal of improving piglets welfare. HighlightsO_LIData on individual piglet birth weight were collected on Swiss farms over 18 years C_LIO_LIHeteroscedastic animal models integrated three dimensions of genetic components C_LIO_LIThe direct genetic effect and its correlations are minimal and irrelevant for selection C_LIO_LIMaternal genetic effects are crucial for birth weight and its variability C_LIO_LISelection for uniformity is preferable to selection for both traits simultaneously C_LI

Source connections

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Sell-Kubiak, E., Kasper, C., Lepori, A., Gutierrez, J. P., Formoso-Rafferty, N., Khayatzadeh, N., Cervantes, I.. 2025-06-12. Integrating three genetic dimensions relating to piglet birth weight: direct and maternal effects on the mean and genetic control of residual variance. https://doi.org/10.1101/2025.06.10.658284

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

OPA1 controls mitochondrial dysfunction-driven liver fibrosis in MASLD

Progressive hepatic fibrosis is the principal determinant of morbidity and mortality in metabolic dysfunction-associated steatotic liver disease and steatohepatitis (MASLD/MASH). Mitochondrial dysfunction is a hallmark of MASH, and the release of mitochondrial damage-associated molecular patterns (mito-DAMPs) from injured hepatocytes can promote fibrosis. However, how mitochondrial dynamics and quality control shape the fibrotic response in MASLD/MASH remains unclear. Here, through large-scale genomic analyses of mitochondrial genes governing mitophagy, fusion and fission in human MASLD, with a power-equivalent sample size of approximately 700,000 individuals, we identify a strong association between hepatic fibrosis and the mitochondrial fusion factor dynamin-like GTPase optic atrophy 1 (OPA1). OPA1 transcripts and protein abundance in the liver epithelium were progressively dysregulated with advancing fibrosis. In mice, hepatocyte-specific OPA1 loss alone was sufficient to induce hepatic stellate cell activation and fibrosis in zone 3, promoted the release of mito-DAMPs into the circulation and exacerbated fibrosis in experimental MASH. These findings identify OPA1 as a central regulator of the hepatic fibrotic response and connect defective mitochondrial homeostasis to mito-DAMP release, hepatic stellate cell activation and fibrosis in MASLD.

genetics↗

Temporal control of mitochondrial mutagenesis reveals the fate of mtDNA mutations with age

Mutations in the mitochondrial genome (mtDNA) play a critical role in the aging process and a wide variety of age-related diseases. However, it remains unclear when the mutations that drive physiological decline arise. To answer this question, we generated a new mouse model in which mitochondrial mutagenesis can be confined to a defined window of time. Surprisingly, we found that mutations that arise during the first two months of life are sufficient to drive a wide variety of age-related pathologies, and that the severity of this pathology is broadly regulated by distinct, tissue-specific selective pressures that control the fate of mtDNA mutations with age. Further, we found that selection against deleterious variants can be modulated by manipulation of mitochondrial fusion in vitro and in vivo. These observations raise the possibility that in some tissues, the pace of aging is pre-determined by events that occur early in life and that interventions targeting mitochondrial fusion may be able to slow down or reverse the expansion of these pathogenic variants. These results carry far-reaching implications for strategies aimed at preventing or delaying age-related decline.

genetics↗

Innate immune stress pathway activation underlies heterochromatin dysfunction pathology

Heterochromatin loss disrupts nuclear architecture, gene regulation and repetitive element silencing, and is associated with diverse human diseases. However, mechanisms linking heterochromatin dysfunction to pathological phenotypes remain unclear. Using genetic interaction screening and genomic analyses in C. elegans, we identify secondary activation of the Intracellular Pathogen Response (IPR), an innate immune stress pathway, as a major contributor to heterochromatin mutant phenotypes. Constitutive IPR activation phenocopies slow growth and indirect transcriptional changes observed in these mutants. Depletion of genetic enhancers further increased, whereas suppressor RNAi attenuated IPR activation, with direct heterochromatin targets remaining substantially deregulated. Notably, many suppressors encode active chromatin components, and mild reduction of RNA polymerase II activity ameliorates growth defects in C. elegans HP1 mutants and human HP1-deficient cells. Our findings reveal secondary stress response activation as an important mechanism linking heterochromatin dysfunction to pathology and identify transcriptional dampening as a potential therapeutic strategy for mitigating these effects.

genetics↗