Sbds, short for Shwachman-Bodian-Diamond syndrome gene, encodes a ribosome assembly factor. It is involved in ribosome biogenesis, ribosomal RNA metabolism, stabilization of mitotic spindles and cellular stress responses. Mutations in Sbds cause Shwachman-Diamond syndrome (SDS), an autosomal recessive disorder with features like exocrine pancreatic insufficiency and hematological dysfunction [1,4]. Genetic models such as zebrafish and mouse models are valuable for studying Sbds.

In zebrafish, sbds-null zebrafish phenocopy many aspects of SDS. Expression of SBDSR126T in sbds-/-zebrafish rescued survival in a dose-dependent manner, but neutropenia persisted and female sex differentiation was suppressed. Also, inactivation of Tp53 failed to rescue neutropenia or survival in sbds-null zebrafish [2]. In a mouse model with inducible Sbds deletion in hematopoietic and osteolineage cells, SBDS deficiency within BM niches caused poor donor hematopoietic recovery and specifically poor HSC engraftment after myeloablative BMT, along with multiple molecular and cellular defects within niche populations [3].

In conclusion, Sbds is crucial for ribosome-related functions and normal development. The study of Sbds using gene-knockout models in zebrafish and mice has provided insights into the pathogenesis of SDS, especially in terms of hematological aspects and bone marrow niche function, highlighting its importance in understanding the disease mechanisms and potentially developing new therapeutic strategies for SDS.