Different genetic backgrounds can modify the effect of mutated genes. Human α-synuclein () gene encodes α-synuclein, and its oligomeric complexes accumulate with age and mediate the disruption of cellular homeostasis, resulting in the neuronal death that is characteristic of Parkinson's Disease. Polymorphic variants modulate this complex pathologic mechanism. Previously, we constructed five transgenic introgression lines of a model of α-synuclein using genetic backgrounds that are genetically diverse from the canonical wild-type Bristol N2. A gene expression analysis revealed that the α-synuclein transgene differentially affects genome-wide transcription due to background modifiers. To further investigate how complex traits are affected in these transgenic lines, we measured the α-synuclein transgene expression, the overall accumulation of the fusion protein of α-synuclein and yellow fluorescent protein (YFP), the lysosome-related organelles, and the body size. By using quantitative PCR (qPCR), we demonstrated stable and similar expression levels of the α-synuclein transgene in different genetic backgrounds. Strikingly, we observed that the levels of the a-synuclein:YFP fusion protein vary in different genetic backgrounds by using the COPAS™ biosorter. The quantification of the Nile Red staining assay demonstrates that α-synuclein also affects lysosome-related organelles and body size. Our results show that the same α-synuclein introgression in different backgrounds can produces differing effects on complex traits due to background modifiers.
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http://dx.doi.org/10.3390/genes11070778 | DOI Listing |
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFBMC Plant Biol
January 2025
Department of Field Crops, Faculty of Agriculture, Necmettin Erbakan University, Konya, 42310, Türkiye.
Background: Innovation in crop establishment is crucial for wheat productivity in drought-prone climates. Seedling establishment, the first stage of crop productivity, relies heavily on root and coleoptile system architecture for effective soil water and nutrient acquisition, particularly in regions practicing deep planting. Root phenotyping methods that quickly determine coleoptile lengths are vital for breeding studies.
View Article and Find Full Text PDFBMC Genomics
January 2025
Key Laboratory of Qinghai-Tibetan Plateau Animal Genetic Resource Reservation and Utilization, Sichuan Province and Ministry of Education, Southwest Minzu University, Chengdu, 610225, China.
Background: Microsatellites are highly polymorphic repeat sequences ubiquitously interspersed throughout almost all genomes which are widely used as powerful molecular markers in diverse fields. Microsatellite expansions play pivotal roles in gene expression regulation and are implicated in various neurological diseases and cancers. Although much effort has been devoted to developing efficient tools for microsatellite identification, there is still a lack of a powerful tool for large-scale microsatellite analysis.
View Article and Find Full Text PDFPediatr Res
January 2025
Heart Center, Women and Children's Hospital, Qingdao University, Qingdao, China.
Background: Despite prior observational studies suggesting a link between gut microbiota to Kawasaki disease (KD), these findings remain debated. This study aimed to assess the association between gut microbiota and KD on a genetic level using a two-sample Mendelian randomization (MR) analysis.
Methods: This two-sample MR analysis utilized summary statistics from the largest genome-wide association study meta-analysis on gut microbiota conducted by the MiBioGen consortium.
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