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1.
J Bacteriol ; 192(24): 6482-5, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20971908

RESUMEN

An AUG start codon is an important determinant of ribosome binding and expression of leaderless mRNAs in Escherichia coli. Using reporter constructs encoding mRNAs where the AUG start codon is preceded by untranslated leaders of various length and sequence, we find that close proximity of the start codon to the 5' terminus and the leader sequence are strong determinants of both ribosome binding and expression.


Asunto(s)
Codón Iniciador , Escherichia coli/metabolismo , Regulación Bacteriana de la Expresión Génica/fisiología , ARN Mensajero/metabolismo , Ribosomas/metabolismo , Regiones no Traducidas 5' , Escherichia coli/genética , Unión Proteica , ARN Mensajero/genética , Proteínas Ribosómicas/metabolismo
2.
Nat Neurosci ; 20(4): 602-611, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28263302

RESUMEN

We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions and deletions or copy number variations per ASD subject. We identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability (P = 6 × 10-4). In 294 of 2,620 (11.2%) of ASD cases, a molecular basis could be determined and 7.2% of these carried copy number variations and/or chromosomal abnormalities, emphasizing the importance of detecting all forms of genetic variation as diagnostic and therapeutic targets in ASD.


Asunto(s)
Trastorno del Espectro Autista/genética , Bases de Datos Genéticas , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo/métodos , Aberraciones Cromosómicas , Variaciones en el Número de Copia de ADN , Humanos , Mutagénesis Insercional/genética , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Eliminación de Secuencia/genética
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