Mitochondrial DNA signatures at different spatial scales: from the effects of the Straits of Gibraltar to population structure in the meridional serotine bat (Eptesicus isabellinus)

The meridional serotine bat Eptesicus isabellinus is found in North Africa and the Iberian Peninsula. We analyzed the genetic structure of E. isabellinus at two different geographic scales to reveal the historical and ecological patterns that have shaped its populations. The role of the Straits of Gibraltar as an isolating barrier between African and Iberian populations is evaluated and the degree of genetic structure and female-mediated gene flow was assessed at a local scale between neighboring colonies. Populations of E. isabellinus from Iberia and northern Morocco show little genetic divergence and share mtDNA haplotypes, indicating that the Straits of Gibraltar are neither an impediment to dispersal nor a cause of genetic differentiation. Our results also suggest that E. isabellinus may have dispersed from western Andalusia into northern Morocco after the last glacial period. At a smaller geographic scale, the colonies studied showed high variation in genetic variability and structure, indicating that no female-mediated gene flow is present. This pattern is consistent with a described pattern of independent endemic viral circulation of the bat rabies virus EBLV-1, which was found when studying rabies dynamics in the same serotine bat coloniesPeer reviewe

Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

Purpose: Monoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). FANCM monoallelic mutations have been reported as moderate risk factors for breast cancer, but there are no reports of any clinical phenotype observed in carriers of biallelic mutations.& para;& para;Methods: Breast cancer probands were subjected to mutation analysis by sequencing gene panels or testing DNA damage response genes.& para;& para;Results: Five cases homozygous for FANCM loss-of-function mutations were identified. They show a heterogeneous phenotype including cancer predisposition, toxicity to chemotherapy, early menopause, and possibly chromosome fragility. Phenotype severity might correlate with mutation position in the gene.& para;& para;Conclusion: Our data indicate that biallelic FANCM mutations do not cause classical FA, providing proof that FANCM is not a canonical FA gene. Moreover, our observations support previous findings suggesting that FANCM is a breast cancer-predisposing gene. Mutation testing of FANCM might be considered for individuals with the above-described clinical features