Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms

Area of Science:

• Genetics
• Developmental Biology
• Molecular Biology

Background:

• Craniofacial spliceosomopathies are genetic disorders affecting spliceosome function.
• These syndromes manifest as facial dysostosis and other developmental abnormalities.
• A key challenge is understanding the tissue-specific effects of ubiquitous spliceosome mutations.

Purpose of the Study:

• To review major craniofacial spliceosomopathies.
• To discuss the application of model systems in studying these disorders.
• To elucidate the underlying mechanisms of craniofacial spliceosomopathies.

Main Methods:

• Review of existing literature on craniofacial spliceosomopathies.
• Discussion of *in vivo* models (mice, zebrafish, frogs).
• Discussion of *in vitro* models (ESCs, iPSCs).

Main Results:

• Model systems successfully recapitulate craniofacial spliceosomopathy phenotypes.
• These models aid in investigating the etiology of spliceosomopathies.
• Recent advances provide insights into disease mechanisms.

Conclusions:

• Model systems are essential for understanding craniofacial spliceosomopathies.
• Research using these models is advancing knowledge of spliceosome-related disorders.
• Further studies with model systems will clarify disease pathogenesis.