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1.
J Biol Chem ; 300(4): 107138, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38447794

RESUMEN

Short tandem repeats are inherently unstable during DNA replication depending on repeat length, and the expansion of the repeat length in the human genome is responsible for repeat expansion disorders. Pentanucleotide AAGGG and ACAGG repeat expansions in intron 2 of the gene encoding replication factor C subunit 1 (RFC1) cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and other phenotypes of late-onset cerebellar ataxia. Herein, we reveal the structural polymorphism of the RFC1 repeats associated with CANVAS in vitro. Single-stranded AAGGG repeat DNA formed a hybrid-type G-quadruplex, whereas its RNA formed a parallel-type G-quadruplex with three layers. The RNA of the ACAGG repeat formed hairpin structure comprising C-G and G-C base pairs with A:A and GA:AG mismatched repeats. Furthermore, both pathogenic repeat RNAs formed more rigid structures than those of the nonpathogenic repeat RNAs. These findings provide novel insights into the structural polymorphism of the RFC1 repeats, which may be closely related to the disease mechanism of CANVAS.


Asunto(s)
Ataxia Cerebelosa , Expansión de las Repeticiones de ADN , Enfermedades del Sistema Nervioso Periférico , Proteína de Replicación C , Enfermedades Vestibulares , Humanos , Ataxia Cerebelosa/genética , Ataxia Cerebelosa/metabolismo , G-Cuádruplex , Repeticiones de Microsatélite , Polimorfismo Genético , Proteína de Replicación C/genética , Proteína de Replicación C/metabolismo , Proteína de Replicación C/química , ARN/química , ARN/genética , ARN/metabolismo , Enfermedades del Sistema Nervioso Periférico/genética , Enfermedades del Sistema Nervioso Periférico/metabolismo , Enfermedades Vestibulares/genética , Enfermedades Vestibulares/metabolismo
3.
Biosci Biotechnol Biochem ; 71(8): 1858-64, 2007 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17690472

RESUMEN

Bacillus cereus 809A and Burkholderia sp. 711C were isolated from soil. These strains demonstrate hydrolysis activity towards prochiral 2-phenyl-1,3-propanediol diacetate and accumulated the corresponding chiral monoacetates into the reaction mixture. When 2-phenyl 1,3-propanediol diacetate was used as a substrate, the produced monoacetates with Burkholderia sp. 711C were obtained in a racemic form but that produced by Bacillus cereus 809A showed an excess of the (S)-form. The resting cell reaction revealed that for Bacillus cereus 809A, there was an enrichment of one of the enantiomers of the monoacetate such that the enantiomeric excess (e.e.) of the (S)-form was over 95%. The purified enzyme from Bacillus cereus 809A hydrolyzed diacetate to monoacetate, and the e.e. value of the (S)-form increased by prolonged reaction in a way similar to the resting cell reaction. From N-terminal amino acids, this esterase is conserved in some strains of Bacillus for which the genomic sequences have been reported.


Asunto(s)
Bacillus cereus/enzimología , Burkholderia/enzimología , Esterasas/metabolismo , Glicoles de Propileno/metabolismo , Bacillus cereus/aislamiento & purificación , Burkholderia/aislamiento & purificación , Esterasas/aislamiento & purificación , Hidrólisis , Microbiología del Suelo , Estereoisomerismo
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