The paper identifies distinct cell type-specific functions of two overlapping PAX6 retinal enhancers using live imaging and single-cell RNA sequencing in zebrafish.

bioRxiv · Nov 25, 2022 · PreprintGenetics

Q-STARZ: Quantitative Spatial and Temporal Assessment of Regulatory element activity in Zebrafish

Shipra Bhatia, Dirk Jan Kleinjan, Kirsty Uttley, Anita Mann, Nefeli Dellepiane, Wendy A. Bickmore

Q-STARZ assesses spatial and temporal activity of wild-type and mutant human CRE alleles in zebrafish using live imaging and transgenic reporters.

eLife · Oct 29, 2021Peer-reviewedGenetics

Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R. Louros, Jilly E. Hope, Adam Jackson, James G. D. Prendergast, Liusaidh J. Owen, Magali Naville, Jacqueline K. Rainger, Graeme R. Grimes, Mihail R. Halachev, Laura C. Murphy, Olivera Spasić-Bošković, , David R FitzPatrick

The paper identifies rare CRE variants associated with X-linked intellectual disability by combining sequencing, functional assays in zebrafish and mice, and phenotypic analysis.

bioRxiv · Aug 3, 2020 · PreprintGenetics