Common wheat ( L.) is an important food crop with a unique processing quality. The gene positively regulates the processing quality of wheat, but the underlying mechanism remains unclear. Here, a new allele () responsible for compact spikes and good bread performance was identified. Compared with the allele widely distributed in modern common wheat cultivars, had a missense mutation outside the miRNA172-binding site. This missense mutation led to a more compact messenger RNA (mRNA) secondary structure around the miRNA172-binding region, resulting in increased expression during the spike development stage and a consequent increase in spike density. Furthermore, this missense mutation weakened the physical interaction between Q and storage protein activator (SPA) in seeds and suppressed the expression of (). These changes increased the grain protein content and improved the bread-making quality of wheat. In conclusion, a missense mutation increases expression because of the resulting highly folded mRNA secondary structure around the miRNA172-binding site. Furthermore, this mutation improves the bread-making quality of wheat by repressing the expression of and influencing the physical interaction between Q and SPA. These findings provide new insights into the miRNA172-directed regulation of gene expression, with implications for wheat breeding.
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http://dx.doi.org/10.3390/ijms23147581 | DOI Listing |
Clin Genet
January 2025
Human Molecular Genetics Group, National Health Commission (NHC), Key Laboratory of Molecular Probes and Targeted Diagnosis and Therapy, Harbin Medical University, Harbin, China.
The pathogenicity of cholestatic liver diseases (CLDs) remains insufficiently characterized, hindering definitive diagnosis and timely treatment. The aim of this study was to improve the pathogenicity prediction of novel bile acid (BA) transporter variants in patients with CLDs. We analyzed the clinical characteristics and genetic profiles of a CLD cohort (n = 57) using multiple in silico tools and in vitro functional assays.
View Article and Find Full Text PDFTaiwan J Ophthalmol
December 2024
Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
The aim of this study is to describe genotype and phenotype of patients with bestrophinopathy. The case records were reviewed retrospectively, findings of multimodal imaging such as color fundus photograph, optical coherence tomography (OCT), fundus autofluorescence, electrophysiological, and genetic tests were noted. Twelve eyes of six patients from distinct Indian families with molecular diagnosis were enrolled.
View Article and Find Full Text PDFClin Epigenetics
January 2025
Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.
View Article and Find Full Text PDFBMC Oral Health
January 2025
Clinical Genetics Lab, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences, 162, Poonamallee High Road, Velappanchavadi, Chennai, Tamil Nadu, 600077, India.
Background: Oral squamous cell carcinoma (OSCC) is one of the most prevalent oral cancers in the world. The major etiological factors are considered to be tobacco and alcohol. However, the etiological factors for non-habit associated oral squamous cell carcinoma (NHOSCC) remains an enigma.
View Article and Find Full Text PDFJ Oral Pathol Med
January 2025
Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing, China.
Background: Fibrous dysplasia (FD), caused by activating mutations of GNAS, is a skeletal disorder with considerable clinicopathological heterogeneity. Although prevalent mutations such as R201C and R201H dominate in FD, a limited number of rare mutations, including R201S, R201G, and Q227L, have been documented. The scarcity of information concerning these uncommon mutations motivates our investigation, seeking to enhance comprehension of this less-explored subgroup within FD.
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