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Most major crops are polyploid species and the production of genetically engineered cultivars normally requires the introgression of transgenic or gene-edited traits into elite germplasm. Thus, a main goal of plant research is the search of systems to identify dominant mutations. In this article, we show that the element can be used to identify dominant mutations in allogamous tetraploid cultivated alfalfa. Specifically, we show that a single allelic mutation in the MsNAC39 gene produces multifoliate leaves () alfalfa plants, a pivot trait of breeding programs of this forage species. Finally, we discuss the potential application of a combination of preliminary screening of beneficial dominant mutants using mutant libraries and genome editing the CRISPR/Cas9 system to identify target genes and to rapidly improve both autogamous and allogamous polyploid crops.
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http://dx.doi.org/10.3389/fpls.2021.805032 | DOI Listing |
J Neural Transm (Vienna)
September 2025
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, 40139, Italy.
Multisystem proteinopathy 1 (MSP1) is a rare autosomal dominant disorder caused by mutations in the valosin-containing protein (VCP) gene typically presenting with inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS). Parkinsonism is a rare feature of MSP1, occurring in 3-4% of cases, with limited post-mortem evidence suggesting neuronal synucleinopathy. We report a case of VCP-related parkinsonism providing the first in vivo demonstration of phosphorylated alpha-synuclein deposition in skin biopsy, a highly sensitive and specific in vivo biomarker of synucleinopathy.
View Article and Find Full Text PDFSignal Transduct Target Ther
September 2025
Institute of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China.
Essential tremor (ET) is a common neurological disease that is characterized by 4-12 Hz kinetic tremors of the upper limbs and high genetic heterogeneity. Although numerous candidate genes and loci have been reported, the etiology of ET remains unclear. A novel ET-related gene was initially identified in a five-generation family via whole-exome sequencing, and other variants were identified in 772 familial ET probands and 640 sporadic individuals via whole-genome sequencing.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
September 2025
Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK
Background: In Alzheimer's disease (AD), sensitive measures of cognitive decline prior to overt symptoms are urgently needed. Accelerated long-term forgetting (ALF), where new information is retained normally over conventional testing intervals but is then lost at an accelerated rate over the following days and weeks, has been identified cross-sectionally in presymptomatic autosomal dominant and sporadic AD cohorts. We aimed to assess whether ALF testing is predictive of proximity to future symptom onset.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
September 2025
Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139.
The mutagenic translesion synthesis (TLS) pathway, which is critically dependent on REV1's ability to recruit inserter TLS polymerases and the POLζ extender polymerase, enables cancer cells to bypass DNA lesions while introducing mutations that likely contribute to the development of chemotherapy resistance and secondary malignancies. Targeting this pathway represents a promising therapeutic strategy. Here, we demonstrate that the expression of the C-terminal domain (CTD) of human REV1, a ca.
View Article and Find Full Text PDFEur J Case Rep Intern Med
August 2025
National Rehab Hospital, Dublin, Ireland.
Unlabelled: This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL's impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline.
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