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1.
Cereb Cortex ; 23(5): 1190-7, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-22581846

RESUMEN

The motor regions that control movements of the articulators activate during listening to speech and contribute to performance in demanding speech recognition and discrimination tasks. Whether the articulatory motor cortex modulates auditory processing of speech sounds is unknown. Here, we aimed to determine whether the articulatory motor cortex affects the auditory mechanisms underlying discrimination of speech sounds in the absence of demanding speech tasks. Using electroencephalography, we recorded responses to changes in sound sequences, while participants watched a silent video. We also disrupted the lip or the hand representation in left motor cortex using transcranial magnetic stimulation. Disruption of the lip representation suppressed responses to changes in speech sounds, but not piano tones. In contrast, disruption of the hand representation had no effect on responses to changes in speech sounds. These findings show that disruptions within, but not outside, the articulatory motor cortex impair automatic auditory discrimination of speech sounds. The findings provide evidence for the importance of auditory-motor processes in efficient neural analysis of speech sounds.


Asunto(s)
Corteza Auditiva/fisiología , Percepción Auditiva/fisiología , Corteza Motora/fisiología , Red Nerviosa/fisiología , Percepción del Habla/fisiología , Adulto , Mapeo Encefálico , Femenino , Humanos , Masculino , Vías Nerviosas/fisiología , Adulto Joven
2.
Nature ; 477(7364): 326-9, 2011 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-21921916

RESUMEN

Structural variation is widespread in mammalian genomes and is an important cause of disease, but just how abundant and important structural variants (SVs) are in shaping phenotypic variation remains unclear. Without knowing how many SVs there are, and how they arise, it is difficult to discover what they do. Combining experimental with automated analyses, we identified 711,920 SVs at 281,243 sites in the genomes of thirteen classical and four wild-derived inbred mouse strains. The majority of SVs are less than 1 kilobase in size and 98% are deletions or insertions. The breakpoints of 160,000 SVs were mapped to base pair resolution, allowing us to infer that insertion of retrotransposons causes more than half of SVs. Yet, despite their prevalence, SVs are less likely than other sequence variants to cause gene expression or quantitative phenotypic variation. We identified 24 SVs that disrupt coding exons, acting as rare variants of large effect on gene function. One-third of the genes so affected have immunological functions.


Asunto(s)
Variación Genética/genética , Genoma/genética , Ratones Endogámicos/genética , Fenotipo , Animales , Puntos de Rotura del Cromosoma , Exones/genética , Femenino , Expresión Génica , Genómica , Genotipo , Masculino , Ratones , Ratones Endogámicos/inmunología , Mutagénesis Insercional/genética , Sitios de Carácter Cuantitativo/genética , Ratas , Retroelementos/genética , Eliminación de Secuencia/genética
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