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Considerable cross-talk exists between mechanisms controlling genome architecture and gene expression. AgR loci are excellent models for these processes because they are regulated at both conformational and transcriptional levels to facilitate their assembly by V(D)J recombination. Upon commitment to the double-negative stage of T cell development, Tcrb adopts a compact conformation that promotes long-range recombination between Vβ gene segments (Trbvs) and their DβJβ targets. Formation of a functional VβDβJβ join signals for robust proliferation of double-negative thymocytes and their differentiation into double-positive (DP) cells, where Trbv recombination is squelched (allelic exclusion). DP differentiation also is accompanied by decontraction of Tcrb, which has been thought to separate the entire Trbv cluster from DβJβ segments (spatial segregation-based model for allelic exclusion). However, DP cells also repress transcription of unrearranged Trbvs, which may contribute to allelic exclusion. We performed a more detailed study of developmental changes in Tcrb topology and found that only the most distal portion of the Trbv cluster separates from DβJβ segments in DP thymocytes, leaving most Trbvs spatially available for rearrangement. Preferential dissociation of distal Trbvs is independent of robust proliferation or changes in transcription, chromatin, or architectural factors, which are coordinately regulated across the entire Trbv cluster. Segregation of distal Trbvs also occurs on alleles harboring a functional VβDβJβ join, suggesting that this process is independent of rearrangement status and is DP intrinsic. Our finding that most Trbvs remain associated with DβJβ targets in DP cells revises allelic exclusion models from their current conformation-dominant to a transcription-dominant formulation.
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http://dx.doi.org/10.4049/jimmunol.1500692 | DOI Listing |
Mol Ther Nucleic Acids
September 2025
Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant cancer predisposition syndrome driven by the loss of fumarate hydratase (FH) activity. Recently, we identified a pathogenic variant in intron 9 of the gene that disrupts splicing by creating a novel splice acceptor site, resulting in the aberrant inclusion of a cryptic exon. Inclusion of the cryptic exon introduces a premature termination codon, leading to loss of FH activity.
View Article and Find Full Text PDFAutosomal monoallelic gene expression and asynchronous replication between alleles are well-established features of imprinted genes and genes regulated by allelic exclusion. Inactivation/Stability Centers (I/SCs) are recently described autosomal loci that exhibit epigenetic regulation of allelic expression and replication timing, with differences that can be comparable to those observed between the active and inactive X chromosomes . Here we characterize hundreds of autosomal loci with allele-specific epigenetic regulation of replication timing and gene expression, defining them as I/SCs.
View Article and Find Full Text PDFForensic Sci Int
November 2025
Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Wuhan 430030, China. Electronic address:
Short tandem repeats (STR) remains the forensic gold standard genetic marker but face limitations with trace and degraded DNA. Single nucleotide polymorphism (SNP) offers significant potential to overcome these constraints. This study developed a novel hybridization capture-based SNP panel integrated with next-generation sequencing (NGS) for forensic DNA analysis.
View Article and Find Full Text PDFPrenat Diagn
August 2025
Institut Universitaire de Recherche Clinique, Montpellier, Occitanie, France.
Objective: To report the incidental detection of maternal somatic mosaicism during the development of exclusion-based non-invasive prenatal diagnosis for monogenic disorders (NIPD-MD) initially indicated for apparently de novo pathogenic or likely pathogenic variants.
Method: A droplet digital PCR (ddPCR)-based exclusion NIPD_MD assay was developed for four couples, each with a prior pregnancy affected by a rare autosomal dominant or X-linked condition due to a de novo pathogenic or likely pathogenic variant. Assays were designed to detect fetal-specific variants in maternal plasma, with validation performed on parental and proband samples.
Pathol Res Pract
October 2025
Department of Abdominal Oncology, Jilin Cancer Hospital, Changchun 130000, China. Electronic address:
Background: Gastrointestinal cancers (GICs), encompassing malignancies of the esophagus, stomach, and colorectal regions, are among the most prevalent cancers worldwide. Given the inconsistent and heterogeneous findings across studies, this meta-analysis aims to comprehensively assess the association between vitamin D receptor (VDR) gene polymorphisms and the risk of GICs.
Methods: A systematic search was conducted in MEDLINE, Web of Science, Scopus, and Embase to identify relevant studies investigating the association between VDR polymorphisms and GIC risk.