Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

被引：165

作者：

Kashiyama, Kazuya ^{[1
,2
,3
]}

Nakazawa, Yuka ^{[2
,4
]}

Pilz, Daniela T. ^{[5
]}

Guo, Chaowan ^{[2
,4
]}

Shimada, Mayuko ^{[2
,4
]}

Sasaki, Kensaku ^{[2
,4
]}

Fawcett, Heather ^{[6
]}

Wing, Jonathan F. ^{[6
]}

Lewin, Susan O. ^{[7
]}

Carr, Lucinda ^{[8
]}

Li, Tao-Sheng ^{[9
]}

Yoshiura, Koh-ichiro ^{[10
]}

Utani, Atsushi ^{[11
]}

Hirano, Akiyoshi ^{[1
]}

Yamashita, Shunichi ^{[3
,12
]}

Greenblatt, Danielle ^{[13
]}

Nardo, Tiziana ^{[14
]}

Stefanini, Miria ^{[14
]}

McGibbon, David ^{[13
]}

Sarkany, Robert ^{[13
]}

Fassihi, Hiva ^{[13
]}

Takahashi, Yoshito ^{[15
]}

Nagayama, Yuji ^{[4
]}

Mitsutake, Norisato ^{[2
,3
]}

Lehmann, Alan R. ^{[6
]}

Ogi, Tomoo ^{[2
,4
]}

机构：

[1] Nagasaki Univ, Grad Sch Biomed Sci, Dept Plast & Reconstruct Surg, Nagasaki 8528501, Japan

[2] Nagasaki Univ, Res Ctr Genom Instabil & Carcinogenesis, Nagasaki 8528523, Japan

[3] Nagasaki Univ, Atom Bomb Dis Inst, Dept Radiat Med Sci, Nagasaki 8528523, Japan

[4] Nagasaki Univ, Atom Bomb Dis Inst, Dept Mol Med, Nagasaki 8528523, Japan

[5] Univ Wales Hosp, Inst Med Genet, Cardiff CF14 4XW, S Glam, Wales

[6] Univ Sussex, Genome Damage & Stabil Ctr, Brighton BN1 9RQ, E Sussex, England

[7] Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT 84132 USA

[8] Great Ormond St Hosp Sick Children, London WC1N 3HJ, England

[9] Nagasaki Univ, Atom Bomb Dis Inst, Dept Stem Cell Biol, Nagasaki 8528523, Japan

[10] Nagasaki Univ, Atom Bomb Dis Inst, Dept Human Genet, Nagasaki 8528523, Japan

[11] Nagasaki Univ, Grad Sch Biomed Sci, Dept Dermatol, Nagasaki 8528523, Japan

[12] Fukushima Med Univ, Fukushima 9601295, Japan

[13] St Thomas Hosp, UK Natl Xeroderma Pigmentosum Serv, Dept Photodermatol, St Johns Inst Dermatol, London SE1 7EH, England

[14] CNR, Inst Genet Mol, I-27100 Pavia, Italy

[15] Kanebo Cosmet Inc, Innovat Beauty Sci Lab, Odawara 2500002, Japan

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2013年 / 92卷 / 05期

基金：

日本科学技术振兴机构; 日本学术振兴会;

关键词：

NUCLEOTIDE EXCISION-REPAIR; UV-SENSITIVE SYNDROME; FACIO-SKELETAL SYNDROME; GROUP-F; DNA; MUTATIONS; DEFECTS; DEFICIENCY; SLX4; ABNORMALITIES;

D O I：

10.1016/j.ajhg.2013.04.007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (GSA) and ERCC6 (CSB). For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). In a previous report, we identified several CS cases who did not have mutations in any of these genes. In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF). Remarkably, one of these individuals with XP complementation group F (XP-F) had clinical features of three different DNA-repair disorders-CS, XP, and Fanconi anemia (FA). Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF.

引用

页码：807 / 819

页数：13

共 36 条

[1] MAMMALIAN DNA NUCLEOTIDE EXCISION-REPAIR RECONSTITUTED WITH PURIFIED PROTEIN-COMPONENTS [J].