Comprehensive mapping of Neurofibromin 1 (NF1) expression in developing mouse brain
Lolam, V.; Roy, A.
Show abstract
Neurofibromin 1 (NF1) is a critical negative regulator of the RAS-RAF-ERK pathway, mutations in which have been clinically implicated in various neurodevelopmental disorders. However, the lack of a high-resolution spatiotemporal map has obscured the understanding of why specific cell populations and developmental processes are uniquely vulnerable to NF1 loss. In this study, we present a comprehensive atlas of NF1 expression in the developing mouse brain. Using in situ hybridization and immunohistochemistry, we characterized NF1 distribution from early embryonic stages through postnatal maturation. We further integrated these findings with single-nuclei RNA-sequencing (snRNA-seq) datasets from adult mouse brain to achieve higher resolution. Our results reveal a previously undocumented graded expression pattern of NF1 across various brain regions and lineages. This comprehensive study will not only help in understanding the fundamental role of NF1 during brain development but will also be pivotal in providing a framework to study NF1-associated brain disorders.
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