Search bioRxiv⌕ Search

bioRxiv · 10.1101/2025.05.08.652880

Development of an open-pollinated genetic mapping framework to facilitate the identification of QTL in apples

Abstract

Genetic mapping of traits in apples (Malus domestica), a temperate woody perennial, is challenging due to high heterozygosity, long juvenility, and extensive spatial maintenance requirements for the populations. These factors limit the effective use of traditional quantitative trait locus (QTL) mapping methods in identifying the genetic basis of traits critical for apple production, marketability and sustainability. We explored the use of open-pollinated (OP) genetic mapping as an alternative to conventional bi-parental QTL mapping and genome wide association studies (GWAS). A QTL was simulated and the performance of a mixed linear model (MLM) and a multi-locus mixed model (MLMM) in QTL mapping accuracy was compared using a genotyping-by-sequencing (GBS) dataset of seven interspecific Royal Gala x M. sieversii bi-parental F1 populations. The simulation results show that the MLMM outperformed the MLM by accurately identifying the simulated QTL. Analysis of power indicated that a population size of 137 individuals is required to reach an = 0.8 for a simulated major effect QTL. Mapping resolution analysis showed that a population size of 470-600 individuals, depending on local recombination rates, is necessary to achieve high resolution within the OP population. Simulations demonstrate the potential of OP-based genetic mapping for identifying QTL in apples, reducing the logistical challenges associated with traditional QTL mapping methods. Our results show that OP-based genetic mapping could be used to speed up the identification of novel alleles directly from diverse germplasm collections in apples. Core IdeasBi-parental QTL mapping in apples is constrained by limited diversity, high costs, and long-term orchard space. OP-based mapping avoids controlled pollination, clonal propagation, and large-scale F1 orchard requirements. OP-based mapping offers an alternative to bi-parental mapping by leveraging existing germplasm and natural crosses. OP-mapping enables QTL discovery absent full pedigree information to strategically capture broad genetic diversity. OP F1 populations support fast QTL detection, aiding rapid breeding against emerging pathogens.

Source connections

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Hickok, D., Khan, A., Robbins, K.. 2025-05-13. Development of an open-pollinated genetic mapping framework to facilitate the identification of QTL in apples. https://doi.org/10.1101/2025.05.08.652880

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↗

Mechanism-selective deep mutational scanning distinguishes ERCC2 disease phenotypes

Pathogenic ERCC2 variants cause xeroderma pigmentosum (XP), trichothiodystrophy (TTD) or both, yet variant effect scores are usually interpreted only as measures of pathogenicity rather than of which disease mechanism is disrupted. XPD, the ERCC2-encoded TFIIH subunit, functions in both nucleotide excision repair and transcription. Using yeast complementation deep mutational scanning, we measured the effects of nearly all XPD amino acid substitutions. The assay was mechanism-selective: it preferentially reported transcription-associated function, with pronounced intolerance at the p44 interface, whereas many substitutions affecting DNA binding and helicase activity retained near-wild-type fitness. Accordingly, TTD variants had much lower fitness than XP variants. Computational predictors discriminated pathogenic from benign variants similarly across phenotypes, but the DMS distinguished XP from TTD variants better than all 73 predictors tested. Phenotype-specific ACMG/AMP calibration provided evidence in both directions for TTD but mainly pathogenic evidence for XP. Thus, the selectivity of functional assays, often viewed as a limitation, can reveal disease mechanisms and support phenotype-aware variant interpretation.

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↗