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Sanchez, R.

Publications and source records attributed to Sanchez, R..

36 records · Page 2Linked to original sources

Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1

In humans, a single enzyme 2-aminoadipic semialdehyde synthase (AASS) catalyzes the initial two critical reactions in the lysine degradation pathway. This enzyme evolved to be a bifunctional enzyme with both lysine 2-oxoglutarate reductase (LOR) and saccharopine dehydrogenase domains (SDH). Moreover, AASS is a unique drug target for metabolic genetic diseases such as glutaric aciduria type 1 that arise from deficiencies downstream in the lysine degradation pathway. While work has been done to elucidate the SDH domain structurally and to develop inhibitors, neither has been done for the LOR domain. Here, we purify and characterize LOR, show that AASS is rate-limiting upon high lysine exposure of mice, and present the crystal structure of the human LOR domain, which should enable future efforts to identify inhibitors of this novel drug target.

biochemistry↗

The sunflower WRINKLED1 transcription factor regulates fatty acid biosynthesis genes through an AW box binding sequence with a particular base bias

Sunflower (Helianthus annuus L.) is an important oilseed crop in which the biochemical pathways leading to seed oil synthesis and accumulation have been widely studied. However, how these pathways are regulated is less well understood. The WRINKLED1 (WRI1) transcription factor is considered a master regulator in the transcriptional control of triacylglycerol biosynthesis, acting through the AW box binding element (CNTNG(N)7CG) that resides in the promoter of target genes. Here, we identified the sunflower WRI1 gene and characterized its activity in electrophoretic mobility shift assays. We studied its role as a co-regulator of sunflower genes involved in plastidial fatty acid synthesis, identifying genes bound by this transcription factor. Sunflower WRI1-targets included genes encoding all subunits of the pyruvate dehydrogenase complex, the -CT and BCCP genes of the acetyl-CoA carboxylase complex, genes encoding acyl carrier proteins and key genes of the fatty acid synthase complex (KASIII, KASI and KAR), together with the FATA1 gene. As such, sunflower WRI1 regulates seed plastid fatty acid biosynthesis in a coordinated manner, establishing a WRI1 push and pull strategy that drives oleic acid synthesis for its export into the cytosol. We also analyzed the sequence of the functional sunflower AW box, determining the base bias at the N positions in the active sunflower AW box motif. Accordingly, we conclude that the sunflower AW box is sequence-sensitive at the non-conserved positions, enabling WRI1-binding. Moreover, we found that sunflower WRI1 could bind to a non-canonical AW-box motif, opening the possibility of searching for new target genes.

plant biology↗

The GluN2A subunit of the NMDA receptor modulates the rate of functional maturation in parvalbumin-positive interneurons

N-methyl-D-aspartate receptors (NMDARs) comprise a family of ligand-gated ionotropic glutamate receptors that mediate a calcium-permeable component to fast excitatory neurotransmission. NMDARs are heterotetrameric assemblies of two obligate GluN1 subunits (encoded by the GRIN1 gene) and two GluN2 subunits (encoded by the GRIN2A-GRIN2D genes). Sequencing data shows that 43% (297/679) of all currently known NMDAR disease-associated genetic variants are within the GRIN2A gene, which encodes the GluN2A subunit. Here, we show that unlike missense GRIN2A variants, individuals affected with disease-associated null GRIN2A variants demonstrate a transient period of seizure susceptibility that begins during infancy and diminishes near adolescence. To explore this new clinical finding at that circuit and cellular level, we conducted studies using Grin2a+/- and Grin2a-/-mice at various stages during neurodevelopment. We show increased circuit excitability and CA1 pyramidal cell output in juvenile mice of both Grin2a+/- and Grin2a-/- mice. These alterations in somatic spiking are not due to global upregulation other GRIN genes (including Grin2b) nor can they be attributed to perturbations in the intrinsic excitability or action-potential firing properties of CA1 pyramidal cells. Deeper evaluation of the developing CA1 circuit led us to uncover age- and Grin2a gene dosing-dependent transient delays in the electrophysiological maturation programs of PV interneurons. Overall, we report that Grin2a+/+ mice reach electrophysiological maturation between the neonatal and juvenile neurodevelopmental timepoints, with Grin2a+/- mice not reaching electrophysiological maturation until preadolescence, and Grin2a-/- not reaching electrophysiological maturation until adulthood. Overall, these data may represent a molecular mechanism describing the transient nature of seizure burden in disease-associated null GRIN2A patients.

neuroscience↗

Pathogenic, but not non-pathogenic, Rickettsia manipulate inflammasome-dependent IL-1 responses to facilitate their replication and host dissemination.

Rickettsia species (spp.) are strict obligate intracellular bacteria, with some being pathogenic in their mammalian host, including humans. One critical feature of these stealthy group of pathogens is their ability to manipulate hostile cytosolic environments to their benefits. Although our understanding of Rickettsia cell biology and pathogenesis are evolving, the mechanisms by which pathogenic Rickettsia spp. evade host innate immune detection remains elusive. Here, we showed that disease severity in wild-type (WT) C57BL/6J mice infected with R. typhi (etiologic agent of murine typhus) and R. rickettsii (etiologic agent of Rocky Mountain Spotted Fever), but not with non-pathogenic R. montanensis, correlated with levels of bacterial burden as detected in the spleens, as well as the serum concentrations of pro-inflammatory cytokine IL-1 and to a lesser extent IL- 1{beta}. Antibody-mediated neutralization of IL-1 confirmed a key role in controlling mortality rates and bacterial burdens of rickettsiae-infected WT mice. As macrophages are a primary source of both IL-1 and IL-1{beta} cytokines, we determined the mechanism of the anti-rickettsial activities using bone-marrow-derived macrophages. We found that pathogenic R. typhi and R. rickettsii, but not non-pathogenic R. montanensis, eluded pro- IL-1 induction and benefited pre-dominantly from the reduced IL-1 secretion, via a Caspase-11-Gsdmd-dependent pathway, to facilitate intracytosolic replication. Adoptative transfer experiments identified that IL-1 secretion by macrophages was critical for controlling rickettsiosis in WT mice. In sum, we identified a previously unappreciated pathway by which pathogenic, unlike non-pathogenic, rickettsiae preferentially target the Caspase-11-Gsdmd-IL-1 signaling axis in macrophages thus supporting their replication within the host. IMPORTANCECurrently, no vaccines are available to prevent rickettsioses, while vector-borne rickettsial infections in humans are on the rise globally. In fact, the insufficient understanding of how pathogenic Rickettsia species circumvent host immune defense mechanisms has significantly hindered the development of more effective therapeutics. Here, we identified a previously unappreciated role for the Caspase-11-Gsdmd-IL-1 signaling axis, to limiting the replication of pathogenic R. rickettsia and R. typhi species in murine macrophages and wild-type (WT) C57BL/6J mice. Adoptative transfer studies further identified IL-1-secreting macrophages as critical mediators in controlling rickettsial infection in WT mice. Collectively, these findings provide insight into the potential mechanism of how pathogenic, but not non-pathogenic Rickettsia spp., benefit from a reduction in the Caspase-11-Gsdmd-mediated release of IL-1 to support host colonization.

microbiology↗

Genomic Abelian Finite Groups

Experimental studies reveal that genome architecture splits into DNA sequence domains suggesting a well-structured genomic architecture, where, for each species, genome populations are integrated by individual mutational variants. Herein, we show that, consistent with the fundamental theorem of Abelian finite groups, the architecture of population genomes from the same or closed related species can be quantitatively represented in terms of the direct sum of homocyclic Abelian groups of prime-power order defined on the genetic code and on the set of DNA bases, where populations can be stratified into subpopulations with the same canonical decomposition into p-groups. Through concrete examples we show that the architectures of current annotated genomic regions including (but not limited to) transcription factors binding-motif, promoter regulatory boxes, exon and intron arrangement associated to gene splicing are subjects for feasible modeling as decomposable Abelian p-groups. Moreover, we show that the epigenomic variations induced by diseases or environmental changes also can be represented as an Abelian group decomposable into homocyclic Abelian p-groups. The nexus between the direct sum of homocycle Abelian p-groups and the endomorphism ring paved the ways to unveil unsuspected stochastic-deterministic logical propositions ruling the ensemble of genomic regions. Our study aims to set the basis for concrete applications of the theory in computational biology and bioinformatics. Consistently with this goal, a computational tool designed for the analysis of fixed mutational events in gene/genome populations represented as endomorphisms and automorphisms is provided. Results suggest that complex local architectures and evolutionary features no evident through the direct experimentation can be unveiled through the analysis of the endomorphism ring and the subsequent application of machine learning approaches for the identification of stochastic-deterministic logical rules (reflecting the evolutionary pressure on the region) constraining the set of possible mutational events (represented as homomorphisms) and the evolutionary paths.

genomics↗

A sex-specific evolutionary interaction between ADCY9 and CETP

Pharmacogenomic studies have revealed associations between rs1967309 in the adenylyl cyclase type 9 (ADCY9) gene and clinical responses to the cholesteryl ester transfer protein (CETP) modulator dalcetrapib, however, the mechanism behind this interaction is still unknown. Here, we characterized selective signals at the locus associated with the pharmacogenomic response in human populations and we show that rs1967309 region exhibits signatures of positive selection in several human populations. Furthermore, we identified a variant in CETP, rs158477, which is in long-range linkage disequilibrium with rs1967309 in the Peruvian population. The signal is mainly seen in males, a sex-specific result that is replicated in the LIMAA cohort of over 3,400 Peruvians. Analyses of RNA-seq data further suggest an epistatic interaction on CETP expression levels between the two SNPs in multiple tissues, which also differs between males and females. We also detected interaction effects of the two SNPs with sex on cardiovascular phenotypes in the UK Biobank, in line with the sex-specific genotype associations found in Peruvians at these loci. We propose that ADCY9 and CETP coevolved during recent human evolution due to sex-specific selection, which points towards a biological link between dalcetrapibs pharmacogene ADCY9 and its therapeutic target CETP.

genetics↗

A specific agonist of the orphan nuclear receptor NR2F1 suppresses metastasis through the induction of cancer cell dormancy

AO_SCPLOWBSTRACTC_SCPLOWDisseminated tumor cells (DTCs) in secondary organs often remain dormant for a long period of time before re-awakening and growing into overt metastases. We have previously identified NR2F1/COUP-TF1, an orphan nuclear receptor, as a master regulator of tumor cell dormancy in head and neck squamous cell carcinoma (HNSCC) and other cancer types. Here we describe the identification and function of a novel NR2F1 agonist herein referred to as compound 26 (C26). C26 was found to specifically activate NR2F1 in HNSCC cells, leading to increased NR2F1 transcription and nuclear protein accumulation. C26-mediated activation of NR2F1 induced growth arrest of HNSCC PDX line and cell lines in 3D cultures in vitro and on chicken embryo chorioallantoic membrane (CAM) in vivo. The effect of C26 on growth arrest was lost when NR2F1 was knocked out by CRISPR/Cas9. C26-induced growth arrest was mediated by activation of an NR2F1-regulated dormancy program, including upregulation of cyclin-dependent kinase (CDK) inhibitor p27 and the transcription factors retinoic acid receptor {beta} (RAR{beta}) and Sox9. In mice bearing HNSCC PDX tumors, combined adjuvant and neo-adjuvant treatment with C26 resulted in complete inhibition of lethal lung metastasis. Mechanistic analysis showed that lung DTCs in C26-treated mice displayed an NR2F1hi/p27hi/Ki-67lo phenotype, which kept them dormant in a single-cell state preventing their outgrowth into overt metastases. Our work reveals a novel NR2F1 agonist and provides a proof of principle strategy supporting that inducing DTC dormancy using NR2F1 agonists could be used as a therapeutic strategy to prevent metastasis.

cancer biology↗

Clinically Relevant Gene Editing in Hematopoietic Stem Cells for the Treatment of Pyruvate Kinase Deficiency Hemolytic Anemia

Pyruvate Kinase Deficiency (PKD) is an autosomal recessive disorder caused by mutations in the PKLR gene, which constitutes the main cause of chronic non-spherocytic hemolytic anemia. PKD incidence is estimated in 1 in 20,000 people worldwide. The PKLR gene encodes for the erythroid pyruvate kinase protein (RPK) implicated in the last step of the anaerobic glycolysis in red blood cells. The defective enzyme fails to maintain normal erythrocyte ATP levels, producing severe hemolytic anemia, and can be fatal in severe patients. The only curative treatment for PKD is allogeneic hematopoietic stem and progenitor cells (HSPC) transplantation, so far. However, HSPC transplant is associated with a significant morbidity and mortality, especially in PKD patients. Here, we address the correction of PKD through precise gene editing at the PKLR endogenous locus to keep the tight regulation of RPK enzyme during erythropoiesis. We combined CRISPR/Cas9 system and rAAVs for donor matrix delivery to build an efficient and safe system to knock-in a therapeutic donor at the translation start site of the RPK isoform in human hematopoietic progenitors. Edited human hematopoietic progenitors efficiently reconstituted human hematopoiesis in primary and secondary immunodeficient recipient mice. Moreover, erythroid cells derived from edited PKD-HSPCs restored normal levels of ATP, demonstrating the restoration of RPK function in PKD erythropoiesis after gene editing. Our gene editing strategy may represent a lifelong therapy to restore RPK functionality in RBCs of patients and correct PKD. Single Sentence SummaryClinically relevant gene editing in hematopoietic stem cells for the treatment of Pyruvate Kinase Deficiency.

genetics↗

Subnanometer-resolution structure determination in situ by a hybrid subtomogram averaging - single particle cryoEM - workflow

Cryo electron tomography (cryo-ET) combined with subtomogram averaging (StA) enables structural determination of macromolecules in their native context. A few structures were reported by StA at resolution higher than 4.5 [A], however all of these are from viral structural proteins or vesicle coats. Reaching high resolution for a broader range of samples is uncommon due to beam-induced sample drift, poor signal-to-noise ratio (SNR) of images, challenges in CTF correction, limited number of particles. Here we propose a strategy to address these issues, which consists of a tomographic data collection scheme and a processing workflow. Tilt series are collected with higher electron dose at zero-degree tilt in order to increase SNR. Next, after performing StA conventionally, we extract 2D projections of the particles of interest from the higher SNR images and use the single particle analysis tools to refine the particle alignment and generate a reconstruction. We benchmarked our proposed hybrid StA (hStA) workflow and improved the resolution for tobacco mosaic virus from 7.2 to 5.2 [A] and the resolution for the ion channel RyR1 in crowded native membranes from 12.9 to 9.1 [A]. We demonstrate that hStA can improve the resolution obtained by conventional StA and promises to be a useful tool for StA projects aiming at subnanometer resolution or higher.

biochemistry↗

Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex

DHTKD1 is the E1 component of the 2-oxoadipic acid dehydrogenase complex (OADHc), which functions in the L-lysine degradation pathway. Mutations in DHTKD1 have been associated with 2-aminoadipic and 2-oxoadipic aciduria, Charcot-Marie-Tooth disease type 2Q (CMT2Q) and eosinophilic esophagitis (EoE). A crystal structure and inhibitors of DHTKD1 could improve the understanding of these clinically distinct disorders, but are currently not available. Here we report the identification of adipoylphosphonic acid and tenatoprazole as DHTKD1 inhibitors using targeted and high throughput screening, respectively. We furthermore elucidate the DHTKD1 crystal structure with thiamin diphosphate bound at 2.1 [A]. The protein assembles as a dimer with residues from both monomers contributing to cofactor binding. We also report the impact of ten DHTKD1 missense mutations on the encoded proteins by enzyme kinetics, thermal stability and structural modeling. Some DHTKD1 variants displayed impaired folding (S777P and S862I), whereas other substitutions rendered the enzyme inactive (L234G, R715C and R455Q) or affected the thermal stability and catalytic efficiency (V360A and P773L). Three variants (R163Q, Q305H and G729R) surprisingly showed wild type like properties. Our work provides a structural basis for further understanding of the function of DHTKD1 and a starting point for selective small molecule inhibitors of the enzyme, which could help tease apart the role of this enzyme in several human pathologies.

biochemistry↗

Integrative Network Analysis of Differentially Methylated and Expressed Genes for Biomarker Identification in Leukemia

Genome-wide DNA methylation and gene expression are commonly altered in pediatric acute lymphoblastic leukemia (PALL). Integrated analysis of cytosine methylation and expression datasets has the potential to provide deeper insights into the complex disease states and their causes than individual disconnected analyses. Studies of protein-protein interaction (PPI) networks of differentially methylated (DMGs) and expressed genes (DEGs) showed that gene expression and methylation consistently targeted the same gene pathways associated with cancer: Pathways in cancer, Ras signaling pathway, PI3K-Akt signaling pathway, and Rap1 signaling pathway, among others. Detected gene hubs and hub sub-networks are integrated by signature loci associated with cancer that include, for example, NOTCH1, RAC1, PIK3CD, BCL2, and EGFR. Statistical analysis disclosed a stochastic deterministic dependence between methylation and gene expression within the set of genes simultaneously identified as DEGs and DMGs, where larger values of gene expression changes are probabilistically associated with larger values of methylation changes. Concordance analysis of the overlap between enriched pathways in DEG and DMG datasets revealed statistically significant agreement between gene expression and methylation changes, reflecting a coordinated response of methylation and gene-expression regulatory systems. These results support the identification of reliable and stable biomarkers for cancer diagnosis and prognosis.

cancer biology↗

DHTKD1 and OGDH display in vivo substrate overlap and form a hybrid ketoacid dehydrogenase complex

Glutaric aciduria type 1 (GA1) is an inborn error of lysine degradation characterized by a specific encephalopathy that is caused by toxic accumulation of lysine degradation intermediates. Substrate reduction through inhibition of DHTKD1, an enzyme upstream of the defective glutaryl-CoA dehydrogenase, has been investigated as a potential therapy, but revealed the existence of an alternative enzymatic source of glutaryl-CoA. Here we show that loss of DHTKD1 in GCDH-deficient HEK-293 cells leads to a 2-fold decrease in the established GA1 clinical biomarker glutarylcarnitine, and demonstrate that OGDH is responsible for this remaining glutarylcarnitine production. We furthermore show that DHTKD1 interacts with OGDH, DLST and DLD to form a hybrid -ketoglutaric and -ketoadipic acid dehydrogenase complex. In summary, -ketoadipic acid is an in vivo substrate for DHTKD1, but also OGDH. The classic -ketoglutaric dehydrogenase complex can exist as a previously undiscovered hybrid containing DHTKD1 displaying improved kinetics towards -ketoadipic acid.

biochemistry↗

Measurement of ocular transmission in living human eyes with a double-pass system

PurposeTo develop a methodology based on a double-pass system to obtain useful information about the transmission of ocular media, performing noninvasive measures in vivo.\n\nMethodsThis noninvasive procedure consists of recording double-pass images at different voltages of a laser diode of 780 nm and the determination of the scattering in an area between 25 and 35 arc minutes of each image.\n\nResultsOcular scattering showed a linear behavior respect to the voltage of the laser and the slope of the linear fit was proportional to the transmittance squared of the media evaluated. The relationship between the ocular light scattering of the images and the transmittance values of several filters located into an artificial eye was used as a calibration function. The measurements performed in a group of ten subjects with ages between 25 and 45 years old presented a mean direct transmittance of the whole eye including retina of 42.7 %, which agrees with the bibliography. No differences between dark eyes and light eyes were found.\n\nConclusionWe have developed a method to determine the transmittance of the human eye in vivo for a wavelength of 780 nm using the double-pass method, commonly used for the determination of the optical quality of an eye.

bioengineering↗

The deadly touch: protein denaturation at the water-air interface and how to prevent it

Electron cryo-microscopy analyzes the structure of proteins and protein complexes in vitrified solution. Proteins tend to adsorb to the air-water interface in unsupported films of aqueous solution, which can result in partial or complete denaturation of the protein. We investigated the structure of yeast fatty acid synthase at the air-water interface by electron cryo-tomography and single-particle image processing. Around 90% of complexes adsorbed to the air-water interface are partly denatured. We show that the unfolded regions are those facing the air-water interface. Denaturation by contact with air may happen at any stage of specimen preparation. Denaturation at the air-water interface is completely avoided when the complex is plunge-frozen on a substrate of hydrophilized graphene.

biophysics↗

Addressing challenges of high spatial resolution, UHF field fMRI for group analysis of higher-order cognitive tasks; an inter-sensory task directing attention between visual and somatosensory domains.

Functional MRI at ultra-high field (UHF, [≥]7T) provides significant increases in BOLD contrast-to-noise ratio (CNR) compared with conventional field strength (3T), and has been exploited for reduced field-of-view, high spatial resolution mapping of primary sensory areas. Applying these high spatial resolution methods to investigate whole brain functional responses to higher-order cognitive tasks leads to a number of challenges, in particular how to perform robust group-level statistical analyses.\n\nThis study addresses these challenges using an inter-sensory cognitive task which modulates top-down attention at graded levels between the visual and somatosensory domains. At the individual level, highly focal functional activation to the task and task difficulty (modulated by attention levels) were detectable due to the high CNR at UHF. However, to assess group level effects, both anatomical and functional variability must be considered during analysis. We demonstrate the importance of surface over volume normalization and the requirement of no spatial smoothing when assessing highly focal activity. Using novel group analysis on anatomically parcellated brain regions, we show that in higher cognitive areas (parietal and dorsal-lateral-prefrontal cortex) fMRI responses to graded attention levels were modulated quadratically, whilst in visual cortex and VIP, responses were modulated linearly. These group fMRI responses were not seen clearly using conventional second-level GLM analyses, illustrating the limitations of a conventional approach when investigating such focal responses in higher cognitive regions which are more anatomically variable. The approaches demonstrated here complement other advanced analysis methods such as multi-variate pattern analysis, allowing UHF to be fully exploited in cognitive neuroscience.

neuroscience↗

Example of Methylome Analysis with MethylIT using Cancer Datasets

Methyl-IT, a novel methylome analysis procedure based on information thermodynamics and signal detection was recently released. Methylation analysis involves a signal detection problem, and the method was designed to discriminate methylation regulatory signal from background noise induced by thermal fluctuations. Methyl-IT enhances the resolution of genome methylation behavior to reveal network-associated responses, offering resolution of gene pathway influences not attainable with previous methods. Herein, an example of MethylIT application to the analysis of breast cancer methylomes is presented.

bioinformatics↗

Enhancing resolution of natural methylome reprogramming behavior in plants

BackgroundNatural methylome reprogramming within chromatin involves changes in local energy landscapes that are subject to thermodynamic principles. Signal detection permits the discrimination of methylation signal from dynamic background noise that is induced by thermal fluctuation. Current genome-wide methylation analysis methods do not incorporate biophysical properties of DNA, and focus largely on DNA methylation density changes, which limits resolution of natural, more subtle methylome behavior in relation to gene activity.\n\nResultsWe present here a novel methylome analysis procedure, Methyl-IT, based on information thermodynamics and signal detection. Methylation analysis involves a signal detection step, and the method was designed to discriminate methylation regulatory signal from background variation. Comparisons with commonly used programs and two publicly available methylome datasets, involving stages of seed development and drought stress effects, were implemented. Information divergence between methylation levels from different groups, measured in terms of Hellinger divergence, provides discrimination power between control and treatment samples. Differentially informative methylation positions (DIMPs) achieved higher sensitivity and accuracy than standard differentially methylated positions (DMPs) identified by other methods. Differentially methylated genes (DMG) that are based on DIMPs were significantly enriched in biologically meaningful networks.\n\nConclusionsMethyl-IT analysis enhanced resolution of natural methylome reprogramming behavior to reveal network-associated responses, offering resolution of gene pathway influences not attainable with previous methods.

genomics↗

An epigenetic breeding system in soybean for increased yield and stability

Epigenetic variation has been associated with a wide range of adaptive phenotypes in plants, but there exist few direct means for exploiting this variation. RNAi suppression of the plant-specific gene, MutS HOMOLOG1 (MSH1), in multiple plant species produces a range of developmental changes accompanied by modulation of defense, phytohormone, and abiotic stress response pathways. This msh1-conditioned developmental reprogramming is retained independent of transgene segregation, giving rise to transgene-null memory effects. An isogenic memory line crossed to wild type produces progeny families displaying increased variation in adaptive traits that respond to selection. This study investigates amenability of the MSH1 system for inducing epigenetic variation in soybean that may be of value agronomically. We developed epi-line populations by crossing with msh1-acquired soybean memory lines. Derived soybean epi-lines showed increase in variance for multiple yield-related traits including pods per plant, seed weight, and maturity time in both greenhouse and field trials. Selected epi-F2:4 and epi-F2:5 lines showed an increase in seed yield over wild type. By epi-F2:6, we observed a return of MSH1-derived enhanced growth back to wild type levels. Epi-populations also showed evidence of reduced epitype-by-environment (e x E) interaction, indicating higher yield stability. Transcript profiling of the soybean epi-lines identified putative signatures of enhanced growth behavior across generations. Genes related to cell cycle, abscisic acid biosynthesis, and auxin-response, particularly SMALL AUXIN UP RNAs (SAURs), were differentially expressed in epi-F2:4 lines that showed increased yield when compared to epi-F2:6. These data support the potential of msh1-derived epigenetic variation in plant breeding for enhanced yield and yield stability.

plant biology↗