Mutación dinámica

En xenética, unha mutación dinámica é un elemento herdable inestable no que a probabilidade de expresión dun fenotipo mutante é función do número de copias da mutación. Isto quere dicir que o produto de replicación (a proxenie) dunha mutación dinámica ten unha probabilidade diferente de mutación que o seu predecesor. Estas mutacións, normalmente curtas secuencias repetidas moitas veces, dan lugar a numerosas doenzas, incluíndo os trastornos de repetición de trinucleótidos.[1]

Robert I. Richards e Grant R. Sutherland chamaron este fenómeno, no marco da xenética dinámica, mutaciós dinámicas. A expansión de tripletes está causada polo escorregamento (slippage) durante a replicación do ADN. Debido á natureza repetitiva da secuencia de ADN nesas rexións poden formanrse estruturas en bucle ('loop out') durante a replicacion de ADN mentres se mantén o apareamento complementario de pares de bases entre a febra parental e a febra filla que esta sendo sintetizada. Se se forma a estrutura en bucle a partir da secuencia na febra filla isto resultará nun incremento do número de repeticións. Porén, se a estrutura loop out está formada na febra parental ocorre unha diminución no número de repeticións. Parece que a expansión destas repeticións é máis común que a redución. Xeralmente, canto maior é a expansión máís probable é que causen unha doenza ou se incremente a gravidade da doenza. Esta propiedade resulta na característica anticipación vista en trastornos de repetición de trinucleótidos. A anticipación describe a tendencia a diminuír a idade de comezo e a aumentar a gravidade dos síntomas ao longo das sucesivas xeracións dunha familia afectada debido á expansión destas repeticións.[1]

Características comúns

  • A m aioría desta doenzas teñen síntomas neurolóxicos.
  • A anticipación/o paradoxo de Sherman refírese a unha expresión progresivamente máis temperá ou máis grave da doenza en xeracións máis recentes.
  • As repeticións son usualmente polimórficas en número de copias, con inestabilidade mitótica e meiótica.
  • O número de copias está relacionado coa gravidade e/ou idade de comezo
  • Efectos de impresión
  • Mutación inversa. A mutación pode reverter ao normal ou a un estado portador de premutación.

Exemplos

Notas

  1. ↑ 1,0 1,1 Richards RI (2001). "Dynamic mutations: a decade of unstable expanded repeats in human genetic disease". Hum. Mol. Genet. 10 (20): 2187–94. PMID 11673400. doi:10.1093/hmg/10.20.2187. 
Este artigo tan só é un bosquexo
 Este artigo sobre bioloxía é, polo de agora, só un bosquexo. Traballa nel para axudar a contribuír a que a Galipedia mellore e medre.
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