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Article

Unblending of Transcriptional Condensates in Human Repeat Expansion Disease.

Cell - 28 May 2020

Basu Shaon, Mackowiak Sebastian D, Niskanen Henri, Knezevic Dora, Asimi Vahid, Grosswendt Stefanie, Geertsema Hylkje, Ali Salaheddine, Jerković Ivana, Ewers Helge, Mundlos Stefan, Meissner Alexander, Ibrahim Daniel M, Hnisz Denes

Abstract excerpt

Expansions of amino acid repeats occur in >20 inherited human disorders, and many occur in intrinsically disordered regions (IDRs) of transcription factors (TFs). Such diseases are associated with protein aggregation, but the contribution of aggregates to pathology has been controversial. Here, we report that alanine repeat expansions in the HOXD13 TF, which cause hereditary synpolydactyly in humans, alter its...

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Identifiers

PMID: 32386547
DOI: 10.1016/j.cell.2020.04.018
PMCID: PMC7261253

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