Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics

被引：143

作者：

Bogliolo, Massimo ^{[1
]}

Surralles, Jordi ^{[1
]}

机构：

[1] Univ Autonoma Barcelona, Dept Genet & Microbiol, Genome Instabil & DNA Repair Grp, E-08193 Barcelona, Spain

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2015年 / 33卷

关键词：

STRUCTURE-SPECIFIC NUCLEASES; HOLLIDAY JUNCTION RESOLVASE; STEM-CELL TRANSPLANTATION; EXOME SEQUENCING REVEALS; CROSS-LINK REPAIR; CANCER SUSCEPTIBILITY; DNA-DAMAGE; MARROW-TRANSPLANTATION; ENDOGENOUS ALDEHYDES; PROGENITOR CELLS;

D O I：

10.1016/j.gde.2015.07.002

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Fanconi anemia (FA) is characterized by bone marrow failure, malformations, and chromosome fragility. We review the recent discovery of FA genes and efforts to develop genetic therapies for FA in the last five years. Because current data exclude FANCM as an FA gene, 15 genes remain bona fide FA genes and three (FANCO, FANCR and FANCS) cause an FA like syndrome. Monoallelic mutations in 6 FA associated genes (FANCD1, FANCJ, FANCM, FANCN, FANCO and FANCS) predispose to breast and ovarian cancer. The products of all these genes are involved in the repair of stalled DNA replication forks by unhooking DNA interstrand cross-links and promoting homologous recombination. The genetic characterization of patients with FA is essential for developing therapies, including hematopoietic stem cell transplantation from a savior sibling donor after embryo selection, gene therapy, or genome editing using genetic recombination or engineered nucleases. Newly acquired knowledge about FA promises to provide therapeutic strategies in the near future.

引用

页码：32 / 40

页数：9

共 109 条

[31] Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia [J].

Hira, Asuka ;

Yoshida, Kenichi ;

Sato, Koichi ;

Okuno, Yusuke ;

Shiraishi, Yuichi ;

Chiba, Kenichi ;

Tanaka, Hiroko ;

Miyano, Satoru ;

Shimamoto, Akira ;

Tahara, Hidetoshi ;

Ito, Etsuro ;

Kojima, Seiji ;

Kurumizaka, Hitoshi ;

Ogawa, Seishi ;

Takata, Minoru ;

Yabe, Hiromasa ;

Yabe, Miharu .

AMERICAN JOURNAL OF HUMAN GENETICS, 2015, 96 (06) :1001-1007

[32] Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients [J].

Hira, Asuka ;

Yabe, Hiromasa ;

Yoshida, Kenichi ;

Okuno, Yusuke ;

Shiraishi, Yuichi ;

Chiba, Kenichi ;

Tanaka, Hiroko ;

Miyano, Satoru ;

Nakamura, Jun ;

Kojima, Seiji ;

Ogawa, Seishi ;

Matsuo, Keitaro ;

Takata, Minoru ;

Yabe, Miharu .

BLOOD, 2013, 122 (18) :3206-3209

[33] Mouse SLX4 Is a Tumor Suppressor that Stimulates the Activity of the Nuclease XPF-ERCC1 in DNA Crosslink Repair [J].

Hodskinson, Michael R. G. ;

Silhan, Jan ;

Crossan, Gerry P. ;

Garaycoechea, Juan I. ;

Mukherjee, Shivam ;

Johnson, Christopher M. ;

Schaerer, Orlando D. ;

Patel, Ketan J. .

MOLECULAR CELL, 2014, 54 (03) :472-484

[34] Lentiviral-mediated Genetic Correction of Hematopoietic and Mesenchymal Progenitor Cells From Fanconi Anemia Patients [J].

Jacome, Ariana ;

Navarro, Susana ;

Rio, Paula ;

Yanez, Rosa M. ;

Gonzalez-Murillo, Africa ;

Lozano, M. Luz ;

Luisa Lamana, Maria ;

Sevilla, Julian ;

Olive, Teresa ;

Diaz-Heredia, Cristina ;

Badell, Isabel ;

Estella, Jesus ;

Madero, Luis ;

Guenechea, Guillermo ;

Casado, Jose ;

Segovia, Jose C. ;

Bueren, Juan A. .

MOLECULAR THERAPY, 2009, 17 (06) :1083-1092

[35] Successful haematopoietic stem cell transplantation in 44 children from healthy siblings conceived after preimplantation HLA matching [J].

Kahraman, Semra ;

Beyazyurek, Cagri ;

Yesilipek, Mehmet Akif ;

Ozturk, Gulyuz ;

Ertem, Mehmet ;

Anak, Sema ;

Kansoy, Savas ;

Aksoylar, Serap ;

Kuskonmaz, Baris ;

Oniz, Haldun ;

Slavin, Shimon ;

Karakas, Zeynep ;

Tac, Huseyin Avni ;

Gulum, Nese ;

Ekmekci, Gokhan Cumhur .

REPRODUCTIVE BIOMEDICINE ONLINE, 2014, 29 (03) :340-351

[36] A fludarabine-based protocol for bone marrow transplantation in Fanconi's anemia [J].

Kapelushnik, J ;

Or, R ;

Slavin, S ;

Nagler, A .

BONE MARROW TRANSPLANTATION, 1997, 20 (12) :1109-1110

[37] Stem cell collection and gene transfer in Fanconi anemia [J].

Kelly, Patrick F. ;

Radtke, Susan ;

von Kalle, Christof ;

Balcik, Brenden ;

Bohn, Kimberley ;

Mueller, Robin ;

Schuesler, Todd ;

Haren, Moira ;

Reeves, Lilith ;

Cancelas, Jose A. ;

Leemhuis, Thomas ;

Harris, Richard ;

Auerbach, Arleen D. ;

Smith, Franklin O. ;

Davies, Stella M. ;

Williams, David A. .

MOLECULAR THERAPY, 2007, 15 (01) :211-219

[38] Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer [J].

Kiiski, Johanna I. ;

Pelttari, Liisa M. ;

Khan, Sofia ;

Freysteinsdottir, Edda S. ;

Reynisdottir, Inga ;

Hart, Steven N. ;

Shimelis, Hermela ;

Vilske, Sara ;

Kallioniemi, Anne ;

Schleutker, Johanna ;

Leminen, Arto ;

Butzow, Ralf ;

Blomqvist, Carl ;

Barkardottir, Rosa B. ;

Couch, Fergus J. ;

Aittomaki, Kristiina ;

Nevanlinna, Heli .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2014, 111 (42) :15172-15177

[39] Regulation of Rev1 by the Fanconi anemia core complex [J].

Kim, Hyungjin ;

Yang, Kailin ;

Dejsuphong, Donniphat ;

D'Andrea, Alan D. .

NATURE STRUCTURAL & MOLECULAR BIOLOGY, 2012, 19 (02) :164-170

[40] Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4 [J].

Kim, Yonghwan ;

Spitz, Gabriella S. ;

Veturi, Uma ;

Lach, Francis P. ;

Auerbach, Arleen D. ;

Smogorzewska, Agata .

BLOOD, 2013, 121 (01) :54-63

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