Last update 01 Nov 2024

RECQL1

Last update 01 Nov 2024

Basic Info

Synonyms

ATP-dependent DNA helicase Q1, DNA helicase, RecQ-like type 1, DNA-dependent ATPase Q1

+ [5]

Introduction

DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction.

Drugs associated with RECQL1

targeting RECQL1 (Solasia Pharma)

Target

RECQL1

Mechanism

RECQL1 modulators

Active Org.

Solasia Pharma KK

Originator Org.

Solasia Pharma KK

Active Indication

Peritoneal Neoplasms

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with RECQL1

100 Translational Medicine associated with RECQL1

0 Patents (Medical) associated with RECQL1

917

Literatures (Medical) associated with RECQL1

01 Dec 2024·Molecular Biology Reports

RecQ helicase expression in patients with telomeropathies

Article

Author: Kajigaya, Sachiko ; Santana, Barbara A ; Young, Neal S ; Kjeldsen, Eigil ; Cunha, Renato L G ; Carvalho, Vinicius S ; Donaires, Flávia S ; Silva, João Paulo L ; Martins, Davi J ; Menck, Carlos F M ; Gutierrez-Rodrigues, Fernanda ; Calado, Rodrigo T

BACKGROUNDTelomeropathies are a group of inherited disorders caused by germline pathogenic variants in genes involved in telomere maintenance, resulting in excessive telomere attrition that affects several tissues, including hematopoiesis. RecQ and RTEL1 helicases contribute to telomere maintenance by unwinding telomeric structures such as G-quadruplexes (G4), preventing replication defects. Germline RTEL1 variants also are etiologic in telomeropathies.METHODS AND RESULTSHere we investigated the expression of RecQ (RECQL1, BLM, WRN, RECQL4, and RECQL5) and RTEL1 helicase genes in peripheral blood mononuclear cells (PBMCs) from human telomeropathy patients. The mRNA expression levels of all RecQ helicases, but not RTEL1, were significantly downregulated in patients' primary cells. Reduced RecQ expression was not attributable to cell proliferative exhaustion, as RecQ helicases were not attenuated in T cells exhausted in vitro. An additional fifteen genes involved in DNA damage repair and RecQ functional partners also were downregulated in the telomeropathy cells.CONCLUSIONThese findings indicate that the expression of RecQ helicases and functional partners involved in DNA repair is downregulated in PBMCs of telomeropathy patients.

16 Sep 2024·Nature communications

USP50 suppresses alternative RecQ helicase use and deleterious DNA2 activity during replication.

Article

Author: Densham, Ruth M ; Beesley, James F ; Anthony, Elizabeth J ; Vijayendran, Sobana ; Piberger, Ann Liza ; Koestler, Stefan A ; Saponaro, Marco ; Brown, Eric J ; Chauhan, Anoop S ; Van Eijk, Patrick ; Vaitsiankova, Alina ; Stone, Helen R ; Mackay, Hannah L ; Walker, Alexandra K ; Dobbs, Felix ; Lanz, Alexander ; Morris, Joanna R ; Conway-Thomas, Poppy ; Reed, Simon H ; Ronson, George E ; Starowicz, Katarzyna ; Aghabi, Yara ; Ellis, Katherine ; Garvin, Alexander J ; Petermann, Eva

Mammalian DNA replication relies on various DNA helicase and nuclease activities to ensure accurate genetic duplication, but how different helicase and nuclease activities are properly directed remains unclear. Here, we identify the ubiquitin-specific protease, USP50, as a chromatin-associated protein required to promote ongoing replication, fork restart, telomere maintenance, cellular survival following hydroxyurea or pyridostatin treatment, and suppression of DNA breaks near GC-rich sequences. We find that USP50 supports proper WRN-FEN1 localisation at or near stalled replication forks. Nascent DNA in cells lacking USP50 shows increased association of the DNA2 nuclease and RECQL4 and RECQL5 helicases and replication defects in cells lacking USP50, or FEN1 are driven by these proteins. Consequently, suppression of DNA2 or RECQL4/5 improves USP50-depleted cell resistance to agents inducing replicative stress and restores telomere stability. These data define an unexpected regulatory protein that promotes the balance of helicase and nuclease use at ongoing and stalled replication forks.

05 Jun 2024·GENETICS

A Recql5 mutant facilitates complex CRISPR/Cas9-mediated chromosomal engineering in mouse zygotes

Article

Author: Nagahara, Miki ; Iwamoto, Takashi ; Ido, Risako ; Iwata, Satoru

AbstractComplex chromosomal rearrangements (CCRs) are often observed in clinical samples from patients with cancer and congenital diseases but are difficult to induce experimentally. Here, we report the first success in establishing animal models for CCRs. Mutation in Recql5, a crucial member of the DNA helicase RecQ family involved in DNA replication, transcription, and repair, enabled CRISPR/Cas9-mediated CCRs, establishing a mouse model containing triple fusion genes and megabase-sized inversions. Some of these structural features of individual chromosomal rearrangements use template switching and microhomology-mediated break-induced replication mechanisms and are reminiscent of the newly described phenomenon “chromoanasynthesis.” These data show that Recql5 mutant mice could be a powerful tool to analyze the pathogenesis of CCRs (particularly chromoanasynthesis) whose underlying mechanisms are poorly understood. The Recql5 mutants generated in this study are to be deposited at key animal research facilities, thereby making them accessible for future research on CCRs.

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RECQL1

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