Linking genotype with phenotype is a fundamental goal in biology and requires robust data for both. Recent advances in plant-genome sequencing have expedited comparisons among multiple-related individuals. The abundance of structural genomic within-species variation that has been discovered indicates that a single reference genome cannot represent the complete sequence diversity of a species, leading to the expansion of the pan-genome concept. For high-resolution forward genetics, this unprecedented access to genomic variation should be paralleled and integrated with phenotypic characterization of genetic diversity. We developed a multi-parental framework for trait dissection in melon (Cucumis melo), leveraging a novel pan-genome constructed for this highly variable cucurbit crop. A core subset of 25 diverse founders (MelonCore25), consisting of 24 accessions from the two widely cultivated subspecies of C. melo, encompassing 12 horticultural groups, and 1 feral accession was sequenced using a combination of short- and long-read technologies, and their genomes were assembled de novo. The construction of this melon pan-genome exposed substantial variation in genome size and structure, including detection of ~300 000 structural variants and ~9 million SNPs. A half-diallel derived set of 300 F populations, representing all possible MelonCore25 parental combinations, was constructed as a framework for trait dissection through integration with the pan-genome. We demonstrate the potential of this unified framework for genetic analysis of various melon traits, including rind color intensity and pattern, fruit sugar content, and resistance to fungal diseases. We anticipate that utilization of this integrated resource will enhance genetic dissection of important traits and accelerate melon breeding.
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http://dx.doi.org/10.1111/tpj.16021 | DOI Listing |
J Anat
January 2025
Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
Digital muscle reconstructions have gained attraction in recent years, serving as powerful tools in both educational and research contexts. These reconstructions can be derived from various 2D and 3D data sources, enabling detailed anatomical analyses. In this study, we evaluate the efficacy of surface scans in accurately reconstructing the volumes of the rotator cuff and teres major muscles across a diverse sample of hominoids.
View Article and Find Full Text PDFClin Transl Med
January 2025
Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, China.
Background: Complex interrelationships between the microbiota and cancer have been identified by several studies. However, despite delineating microbial composition in non-small cell lung cancer (NSCLC), key pathogenic microbiota and their underlying mechanisms remain unclear.
Methods: We performed 16S rRNA V3-V4 amplicon and transcriptome sequencing on cancerous and adjacent normal tissue samples from 30 patients with NSCLC, from which clinical characteristics and prognosis outcomes were collected.
Alzheimers Dement
December 2024
Cleveland Clinic, Cleveland, OH, USA.
Background: Cell-type specific expression quantitative trait loci (eQTLs) can help dissect cellular heterogeneity in the impact of genetic variation on gene expression for Alzheimer's disease (AD) and AD-related dementia (ADRD). However, due to the high cost and stringent sample collection criteria, it is challenging to obtain large single-nuclei RNA sequencing (snRNA-seq) data with sufficient cohort size to match genotyping data to systematically identify human brain-specific eQTLs for AD/ADRD.
Method: In this study, we presented a deep learning-based deconvolution framework on large-scale bulk RNA sequencing (RNA-seq) data to infer cell-type specific eQTLs in the human brains with AD/ADRD.
Alzheimers Dement
December 2024
Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Background: The FunGen-xQTL project has significantly advanced genetics by developing and exploring novel quantitative trait loci (QTL) types in human brains, enriching our understanding of complex neurological disease etiology. We broadened the scope of epigenomic QTL analysis, integrating histone acetylation QTLs (haQTLs) and methylation QTLs (mQTLs) that affect multiple histone acetylation peaks or methylation CpG sites spatially. Additionally, we investigated a new category of splicing QTLs (sQTLs) implicated in nonsense-mediated decay (NMD).
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Columbia University, New York, NY, USA.
Background: We examined AD-associated loci to demonstrate how the new FunGen-xQTL resource reveals new insights into the sequence of events leading from health to the amyloid and tau proteinopathies that define AD, as well as subsequent cognitive decline.
Method: We utilized FunGen-xQTL resources (including cell subtype-specific eQTL results) to deconstruct the genetic regulation and cellular specificity of AD loci. Using transcriptomic and proteomic data systematically derived from iPSC-derived neurons and astrocytes in up to 48 iPSC lines we highlight and further dissect those genetic effects that replicate in the proper induced iPSC-derived neuron (iN) or astrocyte (iAstro) model system.
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