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ISSN 0016-3813 (Impreso)

2017, Número 2

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Gac Med Mex 2017; 153 (2)


Implicaciones funcionales de los polimorfismos de un solo nucleótido (SNP) en genes codificantes de proteínas y no codificantes en enfermedades multifactoriales

Ramírez-Bello J, Jiménez-Morales M

Idioma: Español
Referencias bibliográficas: 104
Paginas: 238-250
Archivo PDF: 208.82 Kb.


RESUMEN

Los SNP representan las variantes genéticas más comunes del genoma humano. Estas alteraciones de un solo nucleótido, localizadas tanto en genes codificantes como en no codificantes de proteínas, se dividen en neutras y funcionales. Las primeras no tienen impacto biológico, mientras, las segundas afectan diversos procesos y constantemente se asocian con riesgo en enfermedades multifactoriales. Los SNP funcionales de los promotores de ambos tipos de genes, denominados SNP reguladores (rSNP) y rSNP de microRNA (miR-rSNP), respectivamente, afectan la expresión génica. Los SNP funcionales ubicados en la estructura del RNA heterogéneo nuclear (exones e intrones), mRNA maduros (5’ UTR, secuencia codificante y 3’ UTR), y miRNA (pri, pre y miRNA maduros), se denominan SNP RNA estructurales (srSNP) y miR-srSNPs, respectivamente. Los primeros afectan el corte y empalme; los segundos, la traducción, la estabilidad, la secuencia de aminoácidos, la estructura y la función de las proteínas, y la interacción de mRNA/miRNA; y los terceros alteran la estructura, el procesamiento, la interacción miRNA/mRNA y su función. La evaluación del efecto biológico-funcional alélico de los SNP ha contribuido enormemente a un mejor entendimiento de las enfermedades multifactoriales. El objetivo de esta revisión es actualizar al lector acerca del efecto funcional de estas variantes localizadas en algunos genes codificantes y no codificantes de proteínas, y su relación con las enfermedades multifactoriales.


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