Liu, Z.-Z. | bioRxiv Science

bioRxiv2024

Effect of the SAS chromatin-remodeling complex on chromatin accessibility during flower development

While the role of transcription factors in flower development is well understood, the impact of chromatin remodeling on this process remains largely unclear. We conducted a comprehensive analysis to investigate the coordination of the SAS, BAS, and MAS-type SWI/SNF chromatin-remodeling complexes with transcription factors to regulate chromatin accessibility and gene transcription during flower development in Arabidopsis thaliana. Our findings indicate that the SAS complex binds to numerous genes related to flower development and is responsible for establishing chromatin accessibility of these genes during flower development. In contrast, the BAS and MAS complexes exhibit minimal involvement in regulating the accessibility of these genes. The SAS-bound genomic regions and the SAS-dependent accessible regions are enriched with sites occupied by multiple MADS family transcription factors involved in flower development. Furthermore, we found that the SAS-dependent accessibility is indispensable for the genomic binding of the MADS transcription factor AP1 at these regions. This study highlights the dynamic role of the SAS complex in modulating the genomic binding of transcription factors during plant development. One-sentence summaryThe SAS-type SWI/SNF complex regulates Inflorescence-specific chromatin accessibility at distal promoter and upstream intergenic regions, thereby facilitating the binding of transcription factors involved in flower development.

plant biology↗

bioRxiv2021

Recurrent de novo single point mutation on the gene encoding Na+ /K+ pump results in epilepsy

The etiology of epilepsy remains undefined in two-thirds of patients. Here, we identified a de novo mutation of ATP1A2 (c.2426 T>G, p.Leu809Arg), which encodes the 2 subunit of Na+/K+-ATPase, from a family with idiopathic epilepsy. This mutation caused seizures in the study patients. We generated the point mutation mouse model Atp1a2L809R, which recapitulated the epilepsy observed in the study patients. In Atp1a2L809R/WT mice, convulsions were observed and cognitive and memory function was impaired. This mutation affected the potassium binding function of the protein, disabling its ion transport ability, thereby increasing the frequency of nerve impulses. Our work revealed that ATP1A2L809R mutations cause a predisposition to epilepsy. Moreover, we first provide a point mutation mouse model for epilepsy research and drug screening.

neuroscience↗