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Royal Children's Hospital

2 ARTICLES PUBLISHED IN JoVE

Biology

Quantitation of γH2AX Foci in Tissue Samples

Michelle M. Tang^1,2, Li-Jeen Mah^1,3, Raja S. Vasireddy^1,2,3, George T. Georgiadis¹, Assam El-Osta^2,3, Simon G. Royce^3,4,5, Tom C. Karagiannis^1,3

¹Epigenomic Medicine, Baker IDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct, ²Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct, ³Department of Pathology, The University of Melbourne, ⁴Department of Allergy and Immunology, Murdoch Children's Research Institute, Royal Children's Hospital, ⁵Department of Pediatrics, The University of Melbourne

Quantitation of DNA double-strand breaks on the basis of γH2AX foci has become an invaluable tool, particularly in radiation biology, for the evaluation of tissue radiosensitivity and effects of radiation modifying compounds. Here we demonstrate the use of an immunofluorescence assay for quantitation of γH2AX foci in tissue samples.

Neuroscience

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

Valerio Conti^*1, Aurelie Carabalona^*2,3,15, Emilie Pallesi-Pocachard^2,3,4, Richard J. Leventer^5,6,7, Fabienne Schaller^2,3,8, Elena Parrini¹, Agathe A. Deparis^2,3, Françoise Watrin^2,3, Emmanuelle Buhler^2,3,8, Francesca Novara⁹, Stefano Lise¹⁰, Alistair T. Pagnamenta¹⁰, Usha Kini¹¹, Jenny C. Taylor¹⁰, Orsetta Zuffardi^9,12, Alfonso Represa^2,3, David Antony Keays¹³, Renzo Guerrini^1,14, Antonio Falace^2,3, Carlos Cardoso^2,3

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

Periventricular nodular heterotopia (PNH) is the most common form of malformation of cortical development (MCD) in adulthood but its genetic basis remains unknown in most sporadic cases. We have recently developed a strategy to identify novel candidate genes for MCDs and to directly confirm their causative role in vivo.