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SANS is essential for the release and transfer of the three snrnps from the Cajal body to the nuclear spot
Human Usher syndrome (USH) is the most common hereditary deafness and blindness
Need to further study how SANS protein promotes the development of blindness
Professor Uwe Wolfham said: "Our goal is to clarify the molecular basis of the degeneration of the photoreceptor cells of the eye in the case of Usher syndrome
It is not clear how SANS promotes the pathogenesis of the eye
SANS regulates splicing of pre-mRNA
Splicing is an important process from coding genes to protein biosynthesis
"We were surprised by our discovery that SANS is not only a component of cilia that is transported to the cell surface, but it is also active in the nucleus and can regulate the splicing process there," Wolfrum said, citing their published results in nucleic acid research
The deletion of SANS and the pathogenic mutation of the USH1G/SANS gene prevented the correct assembly and sequential activation of the spliceosome
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Related Links:
https:// -Wolfham Laboratory, JGU Institute of Molecular Physiology, USA;
https:// Institute of Molecular Physiology
