The TUDOR domain of SMN is an H3K79me1 histone mark reader.
Life Sci Alliance
; 6(6)2023 06.
Article
em En
| MEDLINE
| ID: mdl-36882285
ABSTRACT
Spinal muscular atrophy is the leading genetic cause of infant mortality and results from depleted levels of functional survival of motor neuron (SMN) protein by either deletion or mutation of the SMN1 gene. SMN is characterized by a central TUDOR domain, which mediates the association of SMN with arginine methylated (Rme) partners, such as coilin, fibrillarin, and RNA pol II (RNA polymerase II). Herein, we biochemically demonstrate that SMN also associates with histone H3 monomethylated on lysine 79 (H3K79me1), defining SMN as not only the first protein known to associate with the H3K79me1 histone modification but also the first histone mark reader to recognize both methylated arginine and lysine residues. Mutational analyzes provide evidence that SMNTUDOR associates with H3 via an aromatic cage. Importantly, most SMNTUDOR mutants found in spinal muscular atrophy patients fail to associate with H3K79me1.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofia Muscular Espinal
/
Código das Histonas
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Proteína 1 de Sobrevivência do Neurônio Motor
Limite:
Humans
/
Infant
Idioma:
En
Revista:
Life Sci Alliance
Ano de publicação:
2023
Tipo de documento:
Article