A novel allele HLA-DRB1*0478 is described. This variant has one nucleotide substitution in exon 2. This mutations result in an amino acid substitution at condon 70 (CAG --> CGG) from Gln to Arg.
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http://dx.doi.org/10.1111/j.1399-0039.2009.01246.x | DOI Listing |
Mol Ecol
January 2025
Institute of Freshwater Research, Department of Aquatic Resources (SLU Aqua), Swedish University of Agricultural Sciences, Drottningholm, Sweden.
How genetic variation contributes to adaptation at different environments is a central focus in evolutionary biology. However, most free-living species still lack a comprehensive understanding of the primary molecular mechanisms of adaptation. Here, we characterised the targets of selection associated with drastically different aquatic environments-humic and clear water-in the common freshwater fish, Eurasian perch (Perca fluviatilis).
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre, Singapore, Singapore.
The popularity of multi-gene testing has identified more families with two or more pathogenic variants (PV) in cancer predisposition genes, also known as 'MINAS' (multilocus inherited neoplasia alleles syndromes). They are at risk of suboptimal treatment and management as little on this topic is known. We conducted a systematic review of published MINAS cases within cancer predisposition genes to understand their association with more severe presentations.
View Article and Find Full Text PDFPlant Sci
January 2025
Institute of Crop Sciences, Chinese Academy of Agricultural Sciences / State Key Laboratory of Crop Gene Resources and Breeding / National Center of Space Mutagenesis for Crop Improvement, Beijing, China. Electronic address:
Premature senescence has a significant impact on the yield and quality of wheat crops. The process is controlled by multiple and intricate genetic pathways and regulatory elements, whereby the discovery of additional mutants provides important insights into the molecular basis of this important trait. Here, we developed a premature senescence wheat mutant je0874, its leaves started to show yellow before heading stage; with plant growth and development, the degree of yellowing worsened rapidly, and chlorophyll content in flag leaf was reduced by 93.
View Article and Find Full Text PDFAppl Microbiol Biotechnol
January 2025
Department of Microbiology and Biochemistry, Hochschule Geisenheim University, Von-Lade-Straße 1, 65366, Geisenheim, Germany.
Improving ale or lager yeasts by conventional breeding is a non-trivial task. Domestication of lager yeasts, which are hybrids between Saccharomyces cerevisiae and Saccharomyces eubayanus, has led to evolved strains with severely reduced or abolished sexual reproduction capabilities, due to, e.g.
View Article and Find Full Text PDFHemasphere
January 2025
Department of Internal Medicine, Hematology and Oncology, and Institute of Medical Genetics and Genomics, University Hospital Brno and Medical Faculty Masaryk University Brno Czech Republic.
In chronic lymphocytic leukemia, the reliability of next-generation sequencing (NGS) to detect variants ≤10% allelic frequency (low-VAF) is debated. We tested the ability to detect 23 such variants in 41 different laboratories using their NGS method of choice. The sensitivity was 85.
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