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TeloRPA
Implication of Replication Protein A (RPA) in telomere biology disorders
FunderFrench National Research Agency (ANR)
Funder Contribution €705,289.00
DurationFrom 01 Jan 2026
Project codeANR-25-CE12-3525
Identifiers
Description
Telomeres are repeated sequences located at the ends of chromosomes, which are recognized by specific proteins. These structures protect these chromosomal ends and ensure genome stability. As cells divide, telomeric sequences shorten and represent a mark of cellular aging. Premature shortening of telomeric sequences is at the origin of telomere biology syndromes (TBD) such as Dyskeratosis Congenita, aplastic anemia and idiopathic pulmonary fibrosis (IPF). These TBD are rare genetic diseases generally caused by mutations in genes involved in telomere biology, although in many cases the genetic cause is not identified. For the firs time, we identified rare heterozygous variations in genes encoding for subunits of the RPA complex in IPF patients with abnormally short telomeres. RPA is a heterotrimeric DNA-binding protein involved in genome replication and repair. Remarkably, we have published two recent studies showing that mutations in RPA1 and RPA2 genes are responsible for TBD in these patients. For the first time, this work has enabled us to establish the role of RPA in telomere stability and to better understand its function. Moreover, we have identified additional rare mutations, in other patients, in RPA genes and in a gene encoding for a protein that associates with RPA and regulates its function. Our aim now is to continue to determine the functions of RPA at telomeres through the characterization of mutations isolated from new patients, and to show that RPA genes and gene encoding for RPA-associated factor are genetic drivers of TBD.
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Telomeres are repeated sequences located at the ends of chromosomes, which are recognized by specific proteins. These structures protect these chromosomal ends and ensure genome stability. As cells divide, telomeric sequences shorten and represent a mark of cellular aging. Premature shortening of telomeric sequences is at the origin of telomere biology syndromes (TBD) such as Dyskeratosis Congenita, aplastic anemia and idiopathic pulmonary fibrosis (IPF). These TBD are rare genetic diseases generally caused by mutations in genes involved in telomere biology, although in many cases the genetic cause is not identified. For the firs time, we identified rare heterozygous variations in genes encoding for subunits of the RPA complex in IPF patients with abnormally short telomeres. RPA is a heterotrimeric DNA-binding protein involved in genome replication and repair. Remarkably, we have published two recent studies showing that mutations in RPA1 and RPA2 genes are responsible for TBD in these patients. For the first time, this work has enabled us to establish the role of RPA in telomere stability and to better understand its function. Moreover, we have identified additional rare mutations, in other patients, in RPA genes and in a gene encoding for a protein that associates with RPA and regulates its function. Our aim now is to continue to determine the functions of RPA at telomeres through the characterization of mutations isolated from new patients, and to show that RPA genes and gene encoding for RPA-associated factor are genetic drivers of TBD.
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Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. 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Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. 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