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Módulo cis-regulador ensamblado evolutivamente en un locus de ciliopatía humana.

Jeong Ho Lee1, Jennifer L Silhavy, Ji Eun Lee

  • 1Neurogenetics Laboratory, Howard Hughes Medical Institute (HHMI), Department of Neurosciences, University of California, San Diego, CA, USA.

Science (New York, N.Y.)
|January 28, 2012
PubMed
Resumen

Los genes no paralelos TMEM138 y TMEM216, a pesar de carecer de homología de secuencia, forman un grupo funcional que causa el síndrome de Joubert. Su expresión coordinada es crucial para la función celular en el desarrollo de los cilios primarios.

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Área de la Ciencia:

  • Genética La genética.
  • Biología del desarrollo Biología del desarrollo.
  • Biología evolutiva Biología evolutiva.

Sus antecedentes:

  • Los genes no paralelos rara vez comparten funciones en los mamíferos.
  • El síndrome de Joubert es una ciliopatía humana con diversas causas genéticas.

Objetivo del estudio:

  • Para investigar la relación funcional entre TMEM138 y TMEM216 en el síndrome de Joubert.
  • Explorar el arreglo evolutivo y los mecanismos reguladores de estos genes.

Principales métodos:

  • Análisis de mutación genética en pacientes humanos.
  • Genómica comparativa para estudiar la disposición génica y los elementos reguladores.
  • Análisis celulares para evaluar la función de las proteínas en el transporte vesicular.

Principales resultados:

  • Las mutaciones en TMEM138 o TMEM216 causan fenótipos indistinguibles del síndrome de Joubert.
  • TMEM138 y TMEM216, a pesar de carecer de homología, están dispuestos de cabeza a cola y co-regulados.
  • Un elemento regulador intergénico conservado controla su expresión coordinada.
  • Estos genes juegan roles interdependientes en el transporte vesicular a los cilios primarios.

Conclusiones:

  • Los genes no paralelos pueden formar grupos funcionales con elementos reguladores compartidos durante la evolución.
  • La expresión coordinada de TMEM138 y TMEM216 es esencial para la ciliogénesis y la prevención del síndrome de Joubert.