CE12 - Génétique, génomique et ARN

Functions of the Replication Protein A (RPA) in telomere maintenance and genome stability, implication in pulmonary fibrosis and telomere diseases – TeloRPA

Submission summary

Telomeres are short tandemly repeated DNA sequences at the end of chromosomes that preserve genome stability. Abnormal telomere shortening causes telomere syndrome, a rare monogenic disease characterized by bone marrow failure Dyskeratosis Congenita, aplastic anemia and idiopathic pulmonary fibrosis (IPF). Strikingly, rare heterozygous variations predicted to be deleterious in genes encoding for the subunits of RPA genes were identified in patients with short telomeres developing IPF. RPA is a heterotrimeric ssDNA binding protein involved in DNA replication, recombination and repair. Our preliminary results show that RPA patient variations provoke telomeric defects in cells harboring these mutations. These data strengthen our hypothesis that RPA is required to maintain repeated telomeric sequences in human. Our objective is to investigate the role of RPA at telomeres through the characterization of several RPA mutations and to validate RPA genes as genetic factor for telomere diseases.

Project coordination

Stéphane COULON (Centre de recherche en cancérologie de Marseille)

The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.

Partner

IMAGINE IHU IMAGINE - INSTITUT DES MALADIES GÉNÉTIQUES
PHERE Physiopathologie et épidémiologie des maladies respiratoires
CRCM Centre de recherche en cancérologie de Marseille
StrInG Structure et Instabilité des Génomes

Help of the ANR 595,676 euros
Beginning and duration of the scientific project: December 2020 - 48 Months

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