ArticleScience advances2026
Pathogenic variants in the human TONSL protein associated with SPONASTRIME dysplasia impair protein dimerization and DNA repair.
Article in Science advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
TONSL safeguards genome stability by facilitating replication-dependent DNA damage repair and protecting stalled replication forks through homologous recombination. Mutations in TONSL cause SPONASTRIME dysplasia, a rare skeletal disorder. We reveal that TONSL homo-dimerizes via its ubiquitin-like domain (UBL), and two recurrent SPONASTRIME dysplasia causative variants (R934W and G973R) abolish this dimerization. Crystal structures at 1.9 Å resolution show UBL
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