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The SWI/SNF Complex in Neural Crest Cell Development and Disease
Daniel M Fountain1, Tatjana Sauka-Spengler1,2
1MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom; email: daniel.fountain@imm.ox.ac.uk, tatjana.sauka-spengler@imm.ox.ac.uk.
Annual Review of Genomics and Human Genetics
|August 25, 2023
Summary
Pathogenic variants in SWI/SNF chromatin-remodeling complexes like BAF and PBAF are linked to neural crest tumors. Mouse models show early Smarb1 variants cause aggressive tumors, while later variants require additional mutations for less aggressive adult neoplasms.
Area of Science:
- Developmental biology
- Cancer biology
- Chromatin remodeling
Background:
- Neural crest cells are multipotent, forming diverse tissues.
- SWI/SNF chromatin-remodeling complexes (BAF and PBAF) are crucial for neural crest development.
- Pathogenic variants in BAF/PBAF components are implicated in neural crest-derived tumors.
Purpose of the Study:
- Investigate the role of Smarb1 variants in neural crest tumor formation.
- Examine the temporal impact of Smarb1 mutations on tumor development and differentiation.
Main Methods:
- Utilized transgenic mouse models.
- Analyzed the effects of pathogenic Smarb1 variants at different developmental stages.
- Assessed tumor characteristics, including differentiation and aggressiveness.
Main Results:
- Early developmental pathogenic Smarb1 variants led to aggressive, poorly differentiated rhabdoid tumors.
- Later developmental homozygous Smarb1 inactivation required additional tumor suppressor gene variants for differentiated adult neural crest neoplasms.
- These adult neoplasms exhibited a comparatively good prognosis in humans.
Conclusions:
- Smarb1 plays a critical, time-dependent role in neural crest tumor pathogenesis.
- The developmental timing of Smarb1 inactivation influences tumor type, aggressiveness, and prognosis.
- Understanding these temporal dynamics is key for developing therapeutic strategies for neural crest tumors.
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