Evidence map›Paper›PMID 41362770›Full record

ArticleiScience2025

Recombination between fragile regions associated with chromosomal rearrangements in glioblastoma can be mediated by RAGs.

Amita Paranjape, Susmita Kumari, Lipsa Rani Sahu, Amrita Mondal, Swapna Kunhiraman, Arun Sharma M, Namrata M Nilavar, Bibha Choudhary, Sathees C Raghavan

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Article in iScience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Amita ParanjapeDepartment of Biochemistry, Indian Institute of Science, Bangalore 560012, India.
Susmita KumariDepartment of Biochemistry, Indian Institute of Science, Bangalore 560012, India.
Lipsa Rani SahuDepartment of Biochemistry, Indian Institute of Science, Bangalore 560012, India.
Amrita MondalDepartment of Biochemistry, Indian Institute of Science, Bangalore 560012, India.
Swapna KunhiramanDepartment of Biochemistry, Indian Institute of Science, Bangalore 560012, India.
Arun Sharma MDepartment of Biochemistry, Indian Institute of Science, Bangalore 560012, India.
Namrata M NilavarDepartment of Biochemistry, Indian Institute of Science, Bangalore 560012, India.
Bibha ChoudharyInstitute of Bioinformatics and Applied Biotechnology, Electronics City, Bangalore 560100, India.
Sathees C RaghavanDepartment of Biochemistry, Indian Institute of Science, Bangalore 560012, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The RAGs, comprising RAG1 and RAG2, catalyze V(D)J recombination by recognizing recombination-signal sequences (RSS). Glioblastoma, the aggressive brain cancer, has many oncogenic chromosomal alterations; however, the mechanism of their generation is largely unknown. Here, we report that RAGs are expressed in human glioblastoma cells at transcript and protein levels. RNA-seq data analysis confirmed the expression of RAGs in the majority of patients with glioma. Analysis of patient breakpoint sequences reveals cryptic RSS in regions undergoing rearrangements. Biochemical studies demonstrate that RAGs can bind and cleave cryptic RSS in fragile regions (AMY1B, CAMK2D, RN7SKP123-MTF2, DIPK1A, IRX5-IRX6), albeit at lower efficiency. Recombination assay using episomes harboring the fragile regions showed aberrant recombination in these regions, and the efficiency was significantly reduced in RAG1 ablated cells. Finally, we recapitulate the glioblastoma associated AMY1B and RN7SKP123-MTF2 chromosomal rearrangement using an extrachromosomal assay. Thus, the present study provides mechanistic insights into the generation of chromosomal aberrations associated with glioblastoma.

Indexed as

cancerchromosome organizationmolecular interactiontranscriptomics

Identifiers

PMID41362770
PMCPMC12682277

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.