The Fanconi Anemia Pathway and Fertility

Vanessa Tsui; Wayne Crismani

doi:10.1016/j.tig.2018.12.007

The Fanconi Anemia Pathway and Fertility

Trends Genet. 2019 Mar;35(3):199-214. doi: 10.1016/j.tig.2018.12.007. Epub 2019 Jan 22.

Authors

Vanessa Tsui¹, Wayne Crismani²

Affiliations

¹ Genome Stability Unit, St Vincent's Institute of Medical Research, Fitzroy, VIC 3065, Australia; Department of Medicine (St. Vincent's Health), The University of Melbourne, Melbourne, VIC 3010, Australia.
² Genome Stability Unit, St Vincent's Institute of Medical Research, Fitzroy, VIC 3065, Australia; Department of Medicine (St. Vincent's Health), The University of Melbourne, Melbourne, VIC 3010, Australia. Electronic address: wcrismani@svi.edu.au.

PMID: 30683429
DOI: 10.1016/j.tig.2018.12.007

Abstract

Fanconi anemia (FA) is a life-threatening syndrome characterized by bone marrow failure and cancer predispositions. The past two decades have seen an explosion of data in the FA field, both in humans and other organisms, following the cloning of 22 FA genes. A common but notably understudied clinical feature of the disease is the reduced fertility of individuals with FA. This review focuses on the known causes of reduced fertility in FA, and integrates them with the emerging role of the FA pathway in double-strand break (DSB) repair at meiosis in a variety of organisms, as well as providing future directions for research and diagnostics.

Keywords: DNA repair; Fanconi anemia; fertility; gametogenesis; meiosis; primordial germ cells.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Bone Marrow Failure Disorders / complications
Bone Marrow Failure Disorders / genetics*
Bone Marrow Failure Disorders / pathology
DNA Breaks, Double-Stranded
DNA Repair / genetics
Fanconi Anemia / complications
Fanconi Anemia / genetics*
Fanconi Anemia / pathology
Fertility / genetics*
Humans
Meiosis / genetics