<i>Sf3b4</i> mutation in <i>Xenopus tropicalis</i> causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development.

ABSTRACT: Nager syndrome is a rare craniofacial and limb disorder characterized by midface retrusion, micrognathia, absent thumbs, and radial hypoplasia. This disorder results from haploinsufficiency of SF3B4 (splicing factor 3b, subunit 4) a component of the pre-mRNA spliceosomal machinery. The spliceosome is a complex of RNA and proteins that function together to remove introns and join exons from transcribed pre-mRNA. While the spliceosome is present and functions in all cells of the body, most spliceosomopathies - including Nager syndrome - are cell/tissue-specific in their pathology. In Nager syndrome patients, it is the neural crest (NC)-derived craniofacial skeletal structures that are primarily affected. To understand the pathomechanism underlying this condition, we generated a Xenopus tr

SUBMITTER: Griffin C 

PROVIDER: S-EPMC10862923 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature