Relative to homozygous diploids, the presence of multiple homologs or homeologs in polyploids affords greater tolerance to mutations that can impact genome evolution. In this study, we describe sequence and structural variation in the genomes of six accessions of cultivated potato (Solanum tuberosum L.), a vegetatively propagated autotetraploid and their impact on the transcriptome. Sequence diversity was high with a mean single nucleotide polymorphisms (SNP) rate of approximately 1 per 50 bases suggestive of high levels of allelic diversity. Additive gene expression was observed in leaves (3605 genes) and tubers (6156 genes) that contrasted the preferential allele expression of between 2180 and 3502 and 3367 and 5270 genes in the leaf and tuber transcriptome, respectively. Preferential allele expression was significantly associated with evolutionarily conserved genes suggesting selection of specific alleles of genes responsible for biological processes common to angiosperms during the breeding selection process. Copy number variation was rampant with between 16 098 and 18 921 genes in each cultivar exhibiting duplication or deletion. Copy number variable genes tended to be evolutionarily recent, lowly expressed, and enriched in genes that show increased expression in response to biotic and abiotic stress treatments suggestive of a role in adaptation. Gene copy number impacts on gene expression were detected with 528 genes having correlations between copy number and gene expression. Collectively, these data suggest that in addition to allelic variation of coding sequence, the heterogenous nature of the tetraploid potato genome contributes to a highly dynamic transcriptome impacted by allele preferential and copy number-dependent expression effects.
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http://dx.doi.org/10.1111/tpj.13706 | DOI Listing |
Am J Med Genet B Neuropsychiatr Genet
January 2025
Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Externalizing traits and behaviors are broadly defined by impairments in self-regulation and impulse control that typically begin in childhood and adolescence. Externalizing behaviors, traits, and symptoms span a range of traditional psychiatric diagnostic categories. In this study, we sought to generate an algorithm that could reliably identify transdiagnostic childhood-onset externalizing cases and controls within a university hospital electronic health record (EHR) database.
View Article and Find Full Text PDFJ Cancer
January 2025
Department of Otolaryngology, Songjiang Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Nasopharyngeal carcinoma (NPC) refers to a cancerous tumor that develops in the upper and side walls of the nasopharyngeal cavity. Typically, individuals are often diagnosed with the disease when it has already progressed significantly, and those with advanced NPC tend to have an unfavorable outlook in terms of response rate to targeted treatments and overall clinical survival. Various molecular mechanisms, including Myeloid-derived suppressor cells and factors like PD-L1, have been explored to enhance the outcome of NPC.
View Article and Find Full Text PDFJ Cancer
January 2025
Department of Pulmonary and Critical Care Medicine, Guangzhou First People's Hospital, South China University of Technology, Guangzhou, China.
Most patients with non-small cell lung cancer (NSCLC) have metastases at initial diagnosis. However, the comprehensive molecular characteristics and factors associated with its metastases are still needed. Tumor sequencing of 556 cancer-related genes was performed on 114 Chinese NSCLC patients.
View Article and Find Full Text PDFPsychopharmacol Bull
January 2025
Oslin, MD, Veterans Integrated Service Network 4, Mental Illness Research, Education and Clinical Center, Crescenz Veterans Affairs Medical Center and Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
Background: Immunologic measures have been studied as predictors of who will respond to standard antidepressants. Two previous, small studies of pretreatment leukocyte mRNA expression levels of the cytokines macrophage migration inhibitory factor (MIF) and interleukin 1-beta (IL1-β) identified antidepressant treatment responders.
Methods: We tested these findings in 1,299 patients from the PRIME Care study, a multi-center pharmacogenetic depression treatment trial.
Nature
January 2025
Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Glioblastoma is an incurable brain malignancy. By the time of clinical diagnosis, these tumours exhibit a degree of genetic and cellular heterogeneity that provides few clues to the mechanisms that initiate and drive gliomagenesis. Here, to explore the early steps in gliomagenesis, we utilized conditional gene deletion and lineage tracing in tumour mouse models, coupled with serial magnetic resonance imaging, to initiate and then closely track tumour formation.
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