Biology subjects

Kelemen, M.

Publications and source records attributed to Kelemen, M..

4 recordsLinked to original sources

bioRxiv2024

Element partitioning, element localisation and transcriptome responses of date palms exposed to NaCl

Date palm (Phoenix dactylifera L.) is an economically important fruit crop in many (semi)arid regions. Large intra-species variation in susceptibility to NaCl has been reported. Controlled experiments were conducted to evaluate sodium (Na) and chlorine (Cl) partitioning in two-year old plants of six date palm varieties and to determine tissue location of Na and Cl and transcriptome responses to NaCl of two varieties. The largest Na concentrations were found in secondary roots, especially under NaCl treatment. By contrast, only small differences in within-plant partitioning of Cl were observed with less differences between varieties than for Na. Variety Sultana had the largest Na translocation factor. The variety Khalas exhibited better restriction of Na mobility, which may be a consequence of Na hotspots in roots, presumably immobilising Na in roots, which were absent in Sultana. In the root, shoot base and lower part of leaves, Cl accumulated in fibre bands and sclerenchyma sheaths of vascular bundles. RNAseq analysis revealed that Sultana and Khalas respond very differently to NaCl: Khalas modified expression of NaCl-specific genes in both roots and leaves, while Sultana responded manly in leaves. Gene ontology analysis showed that the expression changes for genes linked with photosynthesis and carbohydrate metabolism predominated as a response to NaCl. In Khalas, differentially expressed genes encoding for metal transporters and those reported to be involved in heat, salt and osmotic stress response were found. Large variability in Na and Cl accumulation in different date palm varieties may have practical agronomical consequences.

plant biology↗

bioRxiv2023

A Functional Exodermal Suberin is Key for Plant Nutrition and Growth in Potato

Angiosperm roots, except in Arabidopsis, have both endodermis and exodermis, which regulate radial water and solute movement through lignin and suberin deposition. While endodermal suberin in Arabidopsis acts as a barrier to water and solute uptake and backflow, its implications in other angiosperms with both layers and the role of exodermal suberin remain unclear. We examined potato roots (Solanum tuberosum) and found that exodermis lacks the typical Casparian strip but forms an outer lignin cap, and quickly suberizes near the root tip. In contrast, a few endodermal cells, with Casparian strip, start suberizing much later. The continuous early exodermal suberization covering the root underlines its potential role in mineral nutrient radial movement. To demonstrate it, we used plants downregulating the suberin biosynthetic gene CYP86A33, which had the root suberin reduced in a 61%. Phenotypic analyses of the suberin-deficient mutant showed altered mineral nutrient concentration, slightly reduced water content and compromised growth. Micro-PIXE analyses identified the distribution of elements within the roots and highlighted anatomical compartments defined by apoplastic barriers. These findings advance our understanding of nutrient radial transport, demonstrate exodermal suberin as a bidirectional and selective barrier to element movement, and underscore its importance in nutrient homeostasis and plant growth.

plant biology↗

bioRxiv2020

RapidoPGS: A rapid polygenic score calculator for summary GWAS data without validation dataset

MotivationPolygenic scores (PGS) aim to genetically predict complex traits at an individual level. PGS are typically trained on genome-wide association summary statistics and require an independent test dataset to tune parameters. More recent methods allow parameters to be tuned on the training data, removing the need for independent test data, but approaches are computationally intensive. Based on fine-mapping principles, we present RapidoPGS, a flexible and fast method to compute PGS requiring summary-level GWAS datasets only, with little computational requirements and no test data required for parameter tuning. ResultsWe show that RapidoPGS performs slightly less well than two out of three other widely-used PGS methods (LDpred2, PRScs, and SBayesR) for case-control datasets, with median r2 difference: -0.0092, -0.0042, and 0.0064, respectively, but up to 17,000-fold faster with reduced computational requirements. RapidoPGS is implemented in R and can work with user-supplied summary statistics or download them from the GWAS catalog. Availability and implementationOur method is available with a GPL license as an R package from GitHub.

genetics↗

bioRxiv2018

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

There are thousands of rare human disorders caused by a single deleterious, protein-coding genetic variant 1. However, patients with the same genetic defect can have different clinical presentation 2-4, and some individuals carrying known disease-causing variants can appear unaffected 5. What explains these differences? Here, we show in a cohort of 6,987 children with heterogeneous severe neurodevelopmental disorders expected to be almost entirely monogenic that 7.7% of variance in risk is attributable to inherited common genetic variation. We replicated this genome wide common variant burden by showing that it is over-transmitted from parents to children in an independent sample of 728 trios from the same cohort. Our common variant signal is significantly positively correlated with genetic predisposition to fewer years of schooling, decreased intelligence, and risk of schizophrenia. We found that common variant risk was not significantly different between individuals with and without a known protein-coding diagnostic variant, suggesting that common variant risk is not confined to patients without a monogenic diagnosis. In addition, previously published common variant scores for autism, height, birth weight, and intracranial volume were all correlated with those traits within our cohort, suggesting that phenotypic expression in individuals with monogenic disorders is affected by the same variants as the general population. Our results demonstrate that common genetic variation affects both overall risk and clinical presentation in disorders typically considered to be monogenic.

genetics↗