Search bioRxiv⌕ Search

bioRxiv · 10.1101/2024.11.21.624719

Loss of neuronal Imp induces seizure behavior through Syndecan function

Abstract

Seizures affect a large proportion of the global population and occur due to abnormal neuronal activity in the brain. Unfortunately, widespread genetic and phenotypic heterogeneity contribute to insufficient treatment options. It is critical to identify the genetic underpinnings of how seizures occur to better understand seizure disorders and improve therapeutic development. We used the Drosophila model to identify that IGF-II mRNA Binding Protein (Imp) is linked to the onset of this phenotype. Specific reduction of Imp in neurons causes seizures after mechanical stimulation. Importantly, gross motor behavior is unaffected, showing Imp loss does not affect general neuronal activity. Developmental loss of Imp is sufficient to cause seizures in adults, thus Imp-modulated neuron development affects mature neuronal function. Since Imp is an RNA-binding protein, we sought to identify the mRNA target that Imp regulates in neurons to ensure proper neuronal activity after mechanical stress. We find that Imp protein binds Syndecan (Sdc) mRNA, and reduction of Sdc also causes mechanically-induced seizures. Expression of Sdc in Imp deficient neurons rescues seizure defects, showing that Sdc is sufficient to restore normal behavior after mechanical stress. We suggest that Imp protein binds Sdc mRNA in neurons, and this functional interaction is important for normal neuronal biology and animal behavior in a mechanically-induced seizure model. Since Imp and Sdc are conserved, our work highlights a neuronal specific pathway that might contribute to seizure disorder when mutated in humans.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Roy, P. R., Link, N.. 2024-11-22. Loss of neuronal Imp induces seizure behavior through Syndecan function. https://doi.org/10.1101/2024.11.21.624719

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

Genetic diversity of Plasmodium falciparum and Plasmodium malariae and its association with infectivity of Anopheles coluzzii in the Mfou Health District, Central Region of Cameroon

Background Malaria remains a major public health challenge in Cameroon, with sustained transmission particularly in forest-savannah transition zones. Although Plasmodium falciparum is the predominant malaria parasite, non-falciparum species such as P. malariae also contribute to the human infectious reservoir and to onward transmission. Parasite genetic diversity and multiplicity of infection (MOI) are recognized determinants of malaria transmission and may influence the prevalence and intensity of infection in mosquito vectors. However, whether parasite genetic diversity and MOI differentially influence the infectivity of P. falciparum and P. malariae to local Anopheles coluzzii populations remains poorly characterized. This knowledge gap is particularly relevant in the Mfou Health District, where malaria transmission persists and both P. falciparum and non-falciparum infections occur. Methods A cross-sectional survey was conducted between September 2022 and November 2023 in twelve primary schools in the Mfou Health District. Finger-prick blood samples were collected from children aged 3-17 years and examined by microscopy to identify Plasmodium infections and gametocyte carriers. Gametocyte-positive participants were enrolled in direct membrane feeding assays (DMFA) using locally reared Anopheles coluzzii. Blood samples were tested under two conditions: whole blood (WB) and replacement with naive AB serum. Mosquito infection outcomes were assessed at the oocyst (day 7) and sporozoite stages (day 14). Parasite species were confirmed by quantitative PCR (qPCR), and genetic diversity was assessed using seven microsatellite loci, together with msp1 and msp2 markers for P. falciparum and pmmsp1 for P. malariae. MOI and expected heterozygosity (He) were calculated, and their associations with mosquito infection prevalence and intensity were evaluated using generalized linear models. Results Among 2,807 children screened, 2,111 (75.2%) were infected with Plasmodium, and 388 (18.4%) carried gametocytes. A total of 169 children aged 4-13 years were selected for membrane feeding assays using Anopheles coluzzii, of whom 68% successfully infected mosquitoes. Among 10,872 dissected mosquitoes, 20.2% were infected at the oocyst stage, with both infection prevalence and intensity being higher in mosquitoes fed on AB serum-reconstituted blood than with whole blood. Sporozoite-stage infections were detected in 5.8% of mosquitoes, predominantly under AB serum conditions. Mosquito infection prevalence and intensity increased with gametocyte density, although submicroscopic gametocyte carriers were also infectious. P. falciparum exhibited high genetic diversity (MOI 2.4 {+/-} 0.8; He 0.72 {+/-} 0.07), while P. malariae showed limited diversity (MOI 0.11-0.21; He {approx} 0). Mixed-species and polyclonal infections were associated with enhanced infection outcomes. Moreover, the msp2 FC27 allelic family in P. falciparum and the 800-bp pmmsp1 allele in P. malariae were associated with oocyst development. Overall, parasite genetic diversity, multiplicity of infection, and species composition were positively associated with mosquito infectivity, with only minor seasonal variation observed. Conclusion Malaria transmission in Mfou is sustained by genetically diverse and multiclonal P. falciparum infections, with P. malariae also contributing to the human infectious reservoir. The association of parasite genetic diversity, MOI, and allele-specific factors with mosquito infectivity underscores the importance of addressing asymptomatic and multiclonal infections in malaria control strategies.

genetics↗

Genetic ancestry influences the relative expression of ancestral haplotypes within admixed individuals

Allele-specific expression (ASE) reflects differences between the two haplotypes a person carries, but most ASE studies have been done in European-descent samples. Admixed individuals carry haplotypes from different ancestral backgrounds within the same cell, which allows ancestry effects on regulation to be measured directly. We integrated phased whole-blood RNA-seq with local ancestry inference in 779 participants from the MAGENTA cohort, including non-Hispanic White, African American, Caribbean Hispanic, and Peruvian individuals. Higher West African (YRI) ancestry proportion was associated with more ASE-positive genes per person, and the association remained after adjusting for age, sex, Alzheimer's disease status, APOE genotype, and the number of heterozygous genes. Peruvian ancestry showed no significant association. A gene-level test of imbalance across population groups found 2,053 of 15,008 genes with significant differences, including the major histocompatibility complex in all four groups. A genome-wide scan of 2,213 1 Mb windows compared people carrying two haplotypes of different ancestries with those carrying two of the same ancestry. It identified 52 non-redundant loci that replicated across all four population groups, containing 201, 60, and 110 ancestry-associated genes under the CEU, YRI, and PEL reference baselines. A haplotype-resolved directional analysis showed no genome-wide advantage for either ancestry. It found locus-specific dominance at 11 loci, and only chr8:2-3 Mb (CSMD1) showed the same direction in more than one population group. Genetic ancestry therefore shapes allelic regulation at global, gene, and locus scales.

genetics↗

Assembly-independent measurement of human Yq12 heterochromatin reveals population-scale variation and Yq12-derived RNA in testis

Despite advances in long-read sequencing and telomere-to-telomere assembly, population-scale analysis of large satellite arrays remains challenging. Human Yq12 is a megabase-scale heterochromatic region composed primarily of DYZ1/HSat3A6 and DYZ2/HSat1B repeats, whose near-equal proportions are maintained despite extensive variation in total array length. Here, using complete Y-chromosome assemblies, we developed k-mer-based tools to estimate Yq12 size directly from short- and long-read sequencing data without requiring sample-specific complete assemblies. Across 1,597 males from the 1000 Genomes Project, Yq12 length ranged from ~1 to 52 Mb (mean 26.5 Mb) and varied substantially within and between Y haplogroups. Phylogenetic analyses supported long-term constraint of total Yq12 length near an equilibrium of 26 Mb and strongly coupled evolution of DYZ1 and DYZ2 around near-parity composition. In 303 father-son pairs, fathers had longer estimated Yq12 regions in 70.6% of pairs, while sons more often showed DYZ1:DYZ2 ratios closer to 1:1. Testis Iso-Seq identified transcripts containing DYZ1 and DYZ2 satellite sequences, while single-cell RNA-seq revealed their expression in haploid spermatids. These results establish a scalable framework for studying Yq12 population variation, intergenerational dynamics, and transcription, providing new opportunities to investigate how extreme satellite-array variation relates to Y-chromosome evolution and male germ-cell biology.

genetics↗