bioRxiv Science⌕ Search

Biology subjects

Piovesan, A.

Publications and source records attributed to Piovesan, A..

2 recordsLinked to original sources

Population genetics of bumble bee species with diverging population dynamics

Pollinator populations are facing worldwide declines, underscoring conservation needs. Yet, conservation assessments still mostly rely on occurrence data, often derived from heterogeneous and opportunistic observations. While such data can inform on species presence and distribution, they may overlook important markers of population declines. This is particularly problematic for social species such as bumble bees, which typically exhibit low effective population sizes despite high abundance of workers observed in the field. Despite these putative pitfalls, the relationship between occurrence-based and genetic-based estimates remains largely unexplored in social bees. We here investigated spatio-temporal genetic patterns in five Swiss Bombus species representing contrasting population trajectories over the last century: B. humilis and B. sylvarum (stable), B. ruderatus (increasing), B. pomorum (regionally extinct), and B. veteranus (declining). Museum specimens collected between 1929 and 2023 were genotyped at 11 microsatellite loci to compare spatio-temporal fluctuations in genetic diversity and population structure with occurrence data. Overall, multilocus heterozygosity and allelic richness remained stable in all species during the time period investigated, indicating that the diverging population trends did not result in substantial variation of genetic diversity. In contrast, strong and significant shifts in allelic frequencies between time periods were detected in three species, suggesting recent immigration events. Isolation by distance was detected in the cold-adapted B. veteranus, while the extant warm-adapted species (B. humilis, B. sylvarum, B. ruderatus) showed high levels of gene flow between locations. In B. pomorum, increasing genetic homogenization was observed before extinction. Altogether, these findings show that genetic diversity indexes are not the most adapted tools to monitor conservation status of social bee populations, and that estimates of population structure such as allelic shifts may be more informative. Moreover, these results highlight the importance of monitoring metapopulation dynamics and ensuring connectivity among populations to facilitate gene flow and enable demographic rescue processes.

ecology↗

Folate pathway metabolites are altered in the plasma of subjects with Down syndrome: relation to chromosomal dosage

Down syndrome (DS) is the most common chromosomal disorder and it is caused by trisomy of chromosome 21 (Hsa21). Subjects with DS show a large heterogeneity of phenotypes and the most constant clinical features present are typical facies and intellectual disability (ID). Several studies demonstrated that trisomy 21 causes an alteration in the metabolic profile, involving among all one-carbon cycle. We performed enzyme-linked immunosorbent assays (ELISAs) to identify the concentration of 5 different intermediates of the one-carbon cycle in plasma samples obtained from a total of 164 subjects with DS compared to 54 euploid subjects. We investigated: tetrahydrofolate (THF; DS n=108, control n=41), 5-methyltetrahydrofolate (5-methyl-THF; DS n=140, control n=34), 5-formyltetrahydrofolate (5-formyl-THF; DS n=80, control n=21), S-adenosyl-homocysteine (SAH; DS n=94, control n=20) and S-adenosyl-methionine (SAM; DS n=24, control n=15). Results highlight specific alterations of THF with a median concentration ratio DS/control of 2:3, a decrease of a necessary molecule perfectly consistent with a chromosomal dosage effect. Moreover, SAM and SAH show a ratio DS/control of 1.82:1 and 3.6:1, respectively. The relevance of these results for the biology of intelligence and its impairment in trisomy 21 is discussed, leading to the final proposal of 5-methyl-THF as the best candidate for a clinical trial aimed at restoring the dysregulation of one-carbon cycle in trisomy 21, possibly improving cognitive skills of subjects with DS.

genetics↗