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Alleviating the Effects of Short QT Syndrome Type 3 by Allele-Specific Suppression of the Mutant Allele.
Int J Mol Sci
December 2024
Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Short QT syndrome type 3 (SQTS3 or SQT3), which is associated with life-threatening cardiac arrhythmias, is caused by heterozygous gain-of-function mutations in the gene. This gene encodes the pore-forming α-subunit of the ion channel that carries the cardiac inward rectifier potassium current (I). These gain-of-function mutations either increase the amplitude of I or attenuate its rectification.
View Article and Find Full Text PDFZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.
Nat Genet
January 2025
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).
View Article and Find Full Text PDFIn vivo adenine base editing ameliorates Rho-associated autosomal dominant retinitis pigmentosa.
J Genet Genomics
December 2024
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, Guangdong 510275, China; Key Laboratory of Reproductive Medicine of Guangdong Province, the First Affiliated Hospital and School of Life Sciences, Sun Yat-sen University, Guangzhou, Guangdong 510275, China. Electronic address:
Mutations in the Rhodopsin (RHO) gene are the main cause of autosomal dominant retinitis pigmentosa (adRP), 84% of which are pathogenic gain-of-function point mutations. Treatment strategies for adRP typically involve silencing or ablating the pathogenic allele, while normal RHO protein replacement has no meaningful therapeutic benefit. Here, we present an adenine base editor (ABE)-mediated therapeutic approach for adRP caused by RHO point mutations in vivo.
View Article and Find Full Text PDFThe bHLH transcription factor gene EGL3 accounts for the natural diversity in Arabidopsis fruit trichome pattern and morphology.
Plant Physiol
December 2024
Departamento de Genética Molecular de Plantas, Centro Nacional de Biotecnología (CNB), Consejo Superior de Investigaciones Científicas (CSIC), Madrid 28049, Spain.
The number and distribution of trichomes, i.e., the trichome pattern, in different plant organs shows a conspicuous inter- and intraspecific diversity across Angiosperms that is presumably involved in adaptation to numerous environmental factors.
View Article and Find Full Text PDFClinical implications of a gain-of-function genetic polymorphism in DPYD (rs4294451) in colorectal cancer patients treated with fluoropyrimidines.
Front Pharmacol
December 2024
Experimental and Clinical Pharmacology, Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, Aviano, Province of Pordenone, Italy.
Dihydropyrimidine dehydrogenase (DPD, encoded by the gene) is the rate-limiting enzyme for the detoxification of fluoropyrimidines (FLs). Rs4294451 is a regulatory polymorphism that has recently been functionally characterized and associated with increased DPD expression in the liver. The aim of the present study was to test the clinical implications of being a carrier of rs4294451 in a cohort of 645 FL-treated colorectal cancer patients.
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