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

被引：142

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

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