SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

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

Affiliation:	Department of Clinical Genetics, Vrije Universiteit (VU) Medical Center, Amsterdam, The Netherlands.

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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