A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Valerio Conti; Aurelie Carabalona; Emilie Pallesi-Pocachard; Richard J. Leventer; Fabienne Schaller; Elena Parrini; Agathe A. Deparis; Fran&#231;oise Watrin; Emmanuelle Buhler; Francesca Novara; Stefano Lise; Alistair T. Pagnamenta; Usha Kini; Jenny C. Taylor; Orsetta Zuffardi; Alfonso Represa; David Antony Keays; Renzo Guerrini; Antonio Falace; Carlos Cardoso

doi:10.3791/53570

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En roman-strategien kombinere Array-CGH, hele-exome sekvensering og In Utero elektroporation i gnavere for at identificere sygdomsfremkaldende gener for hjernens misdannelser

JoVE Journal
Neuroscienze

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JoVE Journal Neuroscienze

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

En roman-strategien kombinere Array-CGH, hele-exome sekvensering og In Utero elektroporation i gnavere for at identificere sygdomsfremkaldende gener for hjernens misdannelser

DOI:

10.3791/53570-v

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08:22 min

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December 01, 2017

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¹University of Florence, ²INSERM INMED, ³Aix-Marseille University, ⁴Plateforme Biologie Moléculaire et Cellulaire INMED, ⁵Royal Children’s Hospital, ⁶Murdoch Children’s Research Institute, ⁷University of Melbourne, ⁸Plateforme postgenomique INMED, ⁹University of Pavia, ¹⁰Wellcome Trust Centre for Human Genetics, ¹¹Oxford Radcliffe NHS Trust, ¹²IRCCS Casimiro Mondino Foundation, ¹³Research Institute of Molecular Pathology, ¹⁴IRCCS Stella Maris, ¹⁵Columbia University

Capitoli

00:05Titolo
01:07In Utero Electroporation
03:46Brain Sectioning
05:12Confocal Imaging and Quantitative Analysis
06:35Results: C6orf-70-knockdown Alters Radial Migration of Cortical Neurons
07:46Conclusion

Summary

Traduzione automatica

Periventricular nodulær heterotopia (PNH) er den mest almindelige form for misdannelser af kortikale udvikling (MCD) i voksenalderen, men dens genetiske grundlag forbliver ukendt i de fleste sporadiske tilfælde. Vi har for nylig udviklet en strategi til at identificere nye kandidat gener for MCDs og direkte bekræfte deres forårsagende rolle in vivo.

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