Literature DB >> 21240277

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.

Chantal Stoepker1, Karolina Hain, Beatrice Schuster, Yvonne Hilhorst-Hofstee, Martin A Rooimans, Jurgen Steltenpool, Anneke B Oostra, Katharina Eirich, Elisabeth T Korthof, Aggie W M Nieuwint, Nicolaas G J Jaspers, Thomas Bettecken, Hans Joenje, Detlev Schindler, John Rouse, Johan P de Winter.   

Abstract

DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of DNA repair. Here we report the first human individuals found to have biallelic mutations in SLX4. These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.

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Year:  2011        PMID： 21240277     DOI： 10.1038/ng.751

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  13 in total

1.  First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

Authors:  Nicolaas G J Jaspers; Anja Raams; Margherita Cirillo Silengo; Nils Wijgers; Laura J Niedernhofer; Andria Rasile Robinson; Giuseppina Giglia-Mari; Deborah Hoogstraten; Wim J Kleijer; Jan H J Hoeijmakers; Wim Vermeulen
Journal:  Am J Hum Genet       Date:  2007-01-29       Impact factor: 11.025

2.  Mutation of the RAD51C gene in a Fanconi anemia-like disorder.

Authors:  Fiona Vaz; Helmut Hanenberg; Beatrice Schuster; Karen Barker; Constanze Wiek; Verena Erven; Kornelia Neveling; Daniela Endt; Ian Kesterton; Flavia Autore; Franca Fraternali; Marcel Freund; Linda Hartmann; David Grimwade; Roland G Roberts; Heiner Schaal; Shehla Mohammed; Nazneen Rahman; Detlev Schindler; Christopher G Mathew
Journal:  Nat Genet       Date:  2010-04-18       Impact factor: 38.330

3.  Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination.

Authors:  Sabrina L Andersen; Daniel T Bergstralh; Kathryn P Kohl; Jeannine R LaRocque; Chris B Moore; Jeff Sekelsky
Journal:  Mol Cell       Date:  2009-07-10       Impact factor: 17.970

4.  Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair.

Authors:  Ivan M Muñoz; Karolina Hain; Anne-Cécile Déclais; Mary Gardiner; Geraldine W Toh; Luis Sanchez-Pulido; Johannes M Heuckmann; Rachel Toth; Thomas Macartney; Berina Eppink; Roland Kanaar; Chris P Ponting; David M J Lilley; John Rouse
Journal:  Mol Cell       Date:  2009-07-10       Impact factor: 17.970

5.  Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases.

Authors:  Samira Fekairi; Sarah Scaglione; Charly Chahwan; Ewan R Taylor; Agnès Tissier; Stéphane Coulon; Meng-Qiu Dong; Cristian Ruse; John R Yates; Paul Russell; Robert P Fuchs; Clare H McGowan; Pierre-Henri L Gaillard
Journal:  Cell       Date:  2009-07-10       Impact factor: 41.582

6.  Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair.

Authors:  Jennifer M Svendsen; Agata Smogorzewska; Mathew E Sowa; Brenda C O'Connell; Steven P Gygi; Stephen J Elledge; J Wade Harper
Journal:  Cell       Date:  2009-07-10       Impact factor: 41.582

7.  Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.

Authors:  Anwaar Ahmad; Jacqueline H Enzlin; Nikhil R Bhagwat; Nils Wijgers; Anja Raams; Esther Appledoorn; Arjan F Theil; Jan H J Hoeijmakers; Wim Vermeulen; Nicolaas G J Jaspers; Orlando D Schärer; Laura J Niedernhofer
Journal:  PLoS Genet       Date:  2010-03-05       Impact factor: 5.917

8.  Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.

Authors:  Thiyam Ramsing Singh; Sietske T Bakker; Sheba Agarwal; Michael Jansen; Elke Grassman; Barbara C Godthelp; Abdullah Mahmood Ali; Chang-hu Du; Martin A Rooimans; Qiang Fan; Kebola Wahengbam; Jurgen Steltenpool; Paul R Andreassen; David A Williams; Hans Joenje; Johan P de Winter; Amom Ruhikanta Meetei
Journal:  Blood       Date:  2009-05-07       Impact factor: 22.113

9.  Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.

Authors:  H Joenje; J R Lo ten Foe; A B Oostra; C G van Berkel; M A Rooimans; T Schroeder-Kurth; R D Wegner; J J Gille; M Buchwald; F Arwert
Journal:  Blood       Date:  1995-09-15       Impact factor: 22.113

10.  A novel diagnostic screen for defects in the Fanconi anemia pathway.

Authors:  Akiko Shimamura; Rocio Montes de Oca; John L Svenson; Nicholas Haining; Lisa A Moreau; David G Nathan; Alan D D'Andrea
Journal:  Blood       Date:  2002-08-29       Impact factor: 22.113
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  166 in total

1.  Impaired function of Fanconi anemia type C-deficient macrophages.

Authors:  Ying Liu; Kimberly Ballman; Deqiang Li; Shehnaz Khan; Ethel Derr-Yellin; Weinian Shou; Laura S Haneline
Journal:  J Leukoc Biol       Date:  2011-11-21       Impact factor: 4.962

Review 2.  Orchestrating the nucleases involved in DNA interstrand cross-link (ICL) repair.

Authors:  Blanka Sengerová; Anderson T Wang; Peter J McHugh
Journal:  Cell Cycle       Date:  2011-12-01       Impact factor: 4.534

3.  Multiple DNA binding domains mediate the function of the ERCC1-XPF protein in nucleotide excision repair.

Authors:  Yan Su; Barbara Orelli; Advaitha Madireddy; Laura J Niedernhofer; Orlando D Schärer
Journal:  J Biol Chem       Date:  2012-04-30       Impact factor: 5.157

4.  FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway.

Authors:  Abdullah Mahmood Ali; Arun Pradhan; Thiyam Ramsingh Singh; Changhu Du; Jie Li; Kebola Wahengbam; Elke Grassman; Arleen D Auerbach; Qishen Pang; Amom Ruhikanta Meetei
Journal:  Blood       Date:  2012-02-17       Impact factor: 22.113

5.  Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair.

Authors:  Justin Wai Chung Leung; Yucai Wang; Ka Wing Fong; Michael Shing Yan Huen; Lei Li; Junjie Chen
Journal:  Proc Natl Acad Sci U S A       Date:  2012-03-06       Impact factor: 11.205

Review 6.  The Fanconi anemia pathway and DNA interstrand cross-link repair.

Authors:  Xiaoyu Su; Jun Huang
Journal:  Protein Cell       Date:  2011-09-23       Impact factor: 14.870

Review 7.  Regulation of DNA cross-link repair by the Fanconi anemia/BRCA pathway.

Authors:  Hyungjin Kim; Alan D D'Andrea
Journal:  Genes Dev       Date:  2012-07-01       Impact factor: 11.361

Review 8.  Fanconi anaemia and the repair of Watson and Crick DNA crosslinks.

Authors:  Molly C Kottemann; Agata Smogorzewska
Journal:  Nature       Date:  2013-01-17       Impact factor: 49.962

9.  Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.

Authors:  Yonghwan Kim; Gabriella S Spitz; Uma Veturi; Francis P Lach; Arleen D Auerbach; Agata Smogorzewska
Journal:  Blood       Date:  2012-10-23       Impact factor: 22.113

10.  CtIP mediates replication fork recovery in a FANCD2-regulated manner.

Authors:  Jung Eun Yeo; Eu Han Lee; Eric A Hendrickson; Alexandra Sobeck
Journal:  Hum Mol Genet       Date:  2014-02-20       Impact factor: 6.150
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