Biology subjects

Christian, R.

Publications and source records attributed to Christian, R..

5 recordsLinked to original sources

bioRxiv2026

Adaptive variation in drought-related traits across southern and central European white oak (Quercus sect. Quercus) populations

European white oaks grow from the Mediterranean coast to Southern Scandinavia, a huge environmental gradient that has likely fostered environmental adaptation. In the face of climate change, leveraging adaptations through assisted gene flow could help improve drought tolerance and maintain forest health, but requires an understanding of the species-specific patterns of adaptation to be successful at the target location. In this study, three common gardens were established in Switzerland, Tuerkiye, and Austria for two European white oak species (Quercus robur, and Q. pubescens) using provenances from Central and Southern Europe. Almost 900 oak seedlings were measured at key water-use efficiency and life history traits for their first two year of life and genotyped with low coverage whole-genome sequencing. Trait heritability and environmental adaptation were then explored through pedigree-free animal models, while the genomic architecture of traits was mapped using a genome wide association study ("GWAS"). Across the species, the heritability of measured traits was moderate to high, but common garden had a strong impact, signalling an environmental effect on the phenotype. Adaptation to precipitation seasonality was detected in key productivity and growth traits for both species, but had a small effect on absolute trait values. The GWAS identified a striking 150 kbp association in the Cyclic Nucleotide-Gated Ion Channel gene family with leaf d13C values. This gene family is involved in stomata opening and likely impacts the intrinsic water use efficiency under stress. Together, the strong signals of phenotypic plasticity and rather weak signals of climatic adaptation in seedlings suggest that assisted gene flow in these two white oaks is relevant only for highly drought-sensitive populations, if conducted managers should focus on seeds sources with high precipitation seasonality and smaller leaf sizes.

evolutionary biology↗

bioRxiv2025

Genetic and plastic effects on trait variability in two major tree species: insights from common garden experiments across Europe

Phenotypic plasticity and genetic adaptation are key mechanisms that enable species to respond to changing environments. Tree traits do not vary independently but rather in coordination. However, our understanding of whether functional traits are governed by the same mechanism is far from complete. Thus, we aim at assessing the drivers of trait variability of sessile oak and European beech provenances across their distribution ranges. We estimated growth-related and leaf morphological traits from 9 and 11 provenances of oak and beech, respectively, grown in four different common gardens distributed across their respective distribution areas. Overall, phenotypic plasticity played a dominant role in explaining individual trait variability. For most oak traits, variation among provenances and genetically based plasticity were correlated with the climate of origin, whereas fewer significant associations were found for beech. In oak, climate-transfer distance analyses revealed that traits such as DBH, height, specific leaf area, and long-term growth responses to summer temperature decreased when provenances were moved away from their local precipitation regime. In beech, significant climate-transfer distances were fewer and primarily related to temperature-related parameters. These results suggest that natural selection and local adaptation may play a secondary but notable role. The pattern of multi-trait phenotypes indicates that resource-use strategies among provenances covary with the temperatures of origin in both species. The limited genetic responses in beech could hinder its survival if it reaches the boundaries of trait plasticity, while oak may better adjust through adaptation. Our study contributes to a better understanding of the interplay between genetic adaptation and phenotypic plasticity in long-lived forest trees.

ecology↗

bioRxiv2025

Characterization of a novel mouse model of Dopamine Transporter Deficiency Syndrome and pharmacological therapeutic strategies

The dopamine transporter (DAT) is an essential protein in the maintenance of dopamine homeostasis in the brain. Thus, single amino acid changes in the gene that encodes for DAT can be sufficient to induce disease, such as Dopamine Transporter Deficiency Syndrome (DTDS). DTDS-associated variants are posited to cause DAT protein misfolding, retention in the endoplasmic reticulum, and a consequent depletion or loss of DAT at the cell surface. In turn, proper dopaminergic regulation is lost. Current treatments for DTDS are largely ineffective, and improved therapeutic options are greatly needed. To this end, we have created a novel mouse model of DTDS harboring the A313V knock-in DAT variant, a proxy for the DTDS-causing A314V variant in humans. We show that the A313V knock-in DAT mice are hyperactive, have increased striatal tissue content of dopamine and its metabolites homovanillic acid (HVA) and DOPAC, and impaired dopamine uptake. We demonstrate that FDA approved compounds alpha-methyl-para-tyrosine ([a]MPT) and amphetamine (AMPH) ameliorate hyperactivity in this mouse model. Moreover, [a]MPT may be a disease-modifying treatment by addressing the hyperdopaminergic tone underlying this hyperactivity. In contrast, noribogaine, a pharmacological chaperone for DAT, is unable to rescue DAT expression. Taken together, these findings show that the A313V knock-in DAT variant mice recapitulate several defining phenotypes seen in patients with DTDS, and provide evidence for two novel treatments for the disease.

pharmacology and toxicology↗

bioRxiv2023

Whole-genome screening for near-diagnostic genetic markers for white oak species identification in Europe

ContextIdentifying species in the European white oak complex has been a long standing concern in taxonomy, evolution, forest research and management. Quercus petraea, Q. robur, Q. pubescens and Q. pyrenaica are part of this species complex in western temperate Europe and hybridize in mixed stands, challenging species identification. AimsOur aim was to identify diagnostic single nucleotide polymorphisms (SNPs) for each of the four species that are suitable for routine use and rapid diagnosis in research and applied forestry. MethodsWe first scanned existing whole-genome and target-capture data sets in a reduced number of samples (training set) to identify candidate diagnostic SNPs, ie genomic positions being characterized by a reference allele in one species and by the alternative allele in all other species. Allele frequencies of the candidates SNPs were then explored in a larger, range-wide sample of populations in each species (validation step). ResultsWe found a subset of 38 SNPs (ten for Q. petraea, seven for Q. pubescens, nine for Q. pyrenaica and twelve for Q. robur) that showed near-diagnostic features across their species distribution ranges with Q. pyrenaica and Q. pubescens exhibiting the highest and lowest diagnosticity, respectively. ConclusionsWe provide a new, efficient and reliable molecular tool for the identification of the species Q. petraea, Q. robur, Q. pubescens and Q. pyrenaica, which can be used as a routine tool in forest research and management. This study highlights the resolution offered by whole-genome sequencing data to design diagnostic marker sets for taxonomic assignment, even for species complexes with relatively low differentiation.

plant biology↗

bioRxiv2019

Genome-Scale Characterization of Predicted Plastid-Targeted Proteomes in Higher Plants

Plastids are morphologically and functionally diverse organelles that are dependent on nuclear-encoded, plastid-targeted proteins for all biochemical and regulatory functions. However, how plastid proteomes vary temporally, spatially, and taxonomically has been historically difficult to analyze at genome-wide scale using experimental methods. A bioinformatics workflow was developed and evaluated using a combination of fast and user-friendly subcellular prediction programs to maximize performance and accuracy for chloroplast transit peptides and demonstrate this technique on the predicted proteomes of 15 sequenced plant genomes. Gene family grouping was then performed in parallel using modified approaches of reciprocal best BLAST hits (RBH) and UCLUST. Between 628 protein families were found to have conserved plastid targeting across angiosperm species using RBH, and 828 using UCLUST. However, thousands of clusters were also detected where only one species had predicted plastid targeting, most notably in Panicum virgatum which had 1,458 proteins with species-unique targeting. An average of 45% overlap was found in plastid-targeted gene families compared with Arabidopsis, but an additional 20% of proteins matched against the full Arabidopsis proteome, indicating a unique evolution of plastid targeting. Neofunctionalization through subcellular relocalization is known to impart novel biological functions but has not been described before on genome-wide scale for the plastid proteome. Further work to correlate these predicted novel plastid-targeted proteins to transcript abundance and high-throughput proteomics will uncover unique aspects of plastid biology and shed light on how the plastid proteome has evolved to change plastid morphology and biochemistry.

plant biology↗