Fanconi anemia: Insight from a green plant
(American Society of Plant Biologists) Fanconi anemia is a human genetic disorder with severe effects, including an increased risk of cancer and infertility. Research in plants helps us understand the disease in humans, showing how a key protein functions in the exchange of genetic material.
CONCLUSION: There has been an overall improvement in cancer care service provision for Northland patients since the previous audit, however it still falls short of the national FCT targets. PMID: 29927915 [PubMed - in process]
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Fanconi anemia (FA) is a relatively rare genetic condition with primary sequelae of bone marrow failure, hematologic malignancies, and squamous cell cancers (SCC) of head/neck, breast, and anogenital tract. Many patients require hematopoietic stem cell transplant (bone marrow transplant, BMT) to treat marrow dysfunction, but risk of future malignancies remains. Female patients are at risk of reproductive complications, including infertility related to primary ovarian insufficiency (POI) and gynecologic cancers.
In this study, we generated Fancb mutant mice, the first mouse model of X-linked FA, and identified a novel function of the FA pathway in epigenetic regulation during mammalian gametogenesis. Fancb mutant mice were infertile and exhibited primordial germ cell (PGC) defects during embryogenesis. Further, Fancb mutation resulted in the reduction of undifferentiated spermatogonia in spermatogenesis, suggesting that FANCB regulates the maintenance of undifferentiated spermatogonia. Additionally, based on functional studies, we dissected the pathway in which FANCB functions during meiosis. The localization of FANCB on sex chrom...