نتایج جستجو برای: recq

تعداد نتایج: 711  

2014
Hana Jung Jin A Lee Seoyoon Choi Hyunwoo Lee Byungchan Ahn

Mutations in three human RecQ genes are implicated in heritable human syndromes. Mutations in BLM, a RecQ gene, cause Bloom syndrome (BS), which is characterized by short stature, cancer predisposition, and sensitivity to sunlight. BLM is a RecQ DNA helicase that, with interacting proteins, is able to dissolve various DNA structures including double Holliday junctions. A BLM ortholog, him-6, ha...

Journal: :PLoS ONE 2007
Sudha Sharma Robert M. Brosh

BACKGROUND DNA helicases are ubiquitous enzymes that unwind DNA in an ATP-dependent and directionally specific manner. Unwinding of double-stranded DNA is essential for the processes of DNA repair, recombination, transcription, and DNA replication. Five human DNA helicases sharing sequence similarity with the E. coli RecQ helicase have been identified. Three of the human RecQ helicases are impl...

2013
Lynne S. Cox Penelope A. Mason

Humans possess five distinct RecQ helicases (see Figure 1), all of which possess a hallmark RecQ helicase domain. Mutation or loss in any one of three human RecQ helicases give rise to genetic instability syndromes: WRN mutation gives Werner’s syndrome (WS), BLM loss results in Bloom syndrome (BS), and Rothmund-Thomson syndrome (RTS) is caused by mu‐ tation of RECQL41. WRN has come to prominenc...

2011
Natalie C. Fonville Zalman Vaksman Jessica DeNapoli P. J. Hastings Susan M. Rosenberg

Thymineless death (TLD) is the rapid loss of viability in bacterial, yeast, and human cells starved of thymine. TLD is the mode of action of common anticancer drugs and some antibiotics. TLD in Escherichia coli is accompanied by blocked replication and chromosomal DNA loss and recent work identified activities of recombination protein RecA and the SOS DNA-damage response as causes of TLD. Here,...

2010
Elżbieta Speina Lale Dawut Mohammad Hedayati ZhengMing Wang Alfred May Sybille Schwendener Pavel Janscak Deborah L. Croteau Vilhelm A. Bohr

Human RECQL5 is a member of the RecQ helicase family which is implicated in genome maintenance. Five human members of the family have been identified; three of them, BLM, WRN and RECQL4 are associated with elevated cancer risk. RECQL1 and RECQL5 have not been linked to any human disorder yet; cells devoid of RECQL1 and RECQL5 display increased chromosomal instability. Here, we report the physic...

Journal: :The Biochemical journal 2011
Susanne T Venø Tomasz Kulikowicz Cezar Pestana Piotr P Stepien Tinna Stevnsner Vilhelm A Bohr

The hSuv3 (human Suv3) helicase has been shown to be a major player in mitochondrial RNA surveillance and decay, but its physiological role might go beyond this functional niche. hSuv3 has been found to interact with BLM (Bloom's syndrome protein) and WRN (Werner's syndrome protein), members of the RecQ helicase family involved in multiple DNA metabolic processes, and in protection and stabiliz...

2008
Michael P. Killoran James L. Keck

RecQ helicases are critical for maintaining genome integrity in organisms ranging from bacteria to humans by participating in a complex network of DNA metabolic pathways. Their diverse cellular functions require specialization and coordination of multiple protein domains that integrate catalytic functions with DNA-protein and protein-protein interactions. The RecQ helicase from Deinococcus radi...

Journal: :Journal of bacteriology 2006
Humberto Sanchez Dawit Kidane M Castillo Cozar Peter L Graumann Juan C Alonso

The recognition and processing of double-strand breaks (DSBs) to a 3' single-stranded DNA (ssDNA) overhang structure in Bacillus subtilis is poorly understood. Mutations in addA and addB or null mutations in recJ (DeltarecJ), recQ (DeltarecQ), or recS (DeltarecS) genes, when present in otherwise-Rec+ cells, render cells moderately sensitive to the killing action of different DNA-damaging agents...

Journal: :Genetics 2013
Kara A Bernstein Eleni P Mimitou Michael J Mihalevic Huan Chen Ivana Sunjaveric Lorraine S Symington Rodney Rothstein

The RecQ helicase family is critical during DNA damage repair, and mutations in these proteins are associated with Bloom, Werner, or Rothmund-Thompson syndromes in humans, leading to cancer predisposition and/or premature aging. In the budding yeast Saccharomyces cerevisiae, mutations in the RecQ homolog, SGS1, phenocopy many of the defects observed in the human syndromes. One challenge to stud...

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