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Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency by Rachel Emma Dickinson, Helen Griffin,

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Presentation on theme: "Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency by Rachel Emma Dickinson, Helen Griffin,"— Presentation transcript:

1 Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency by Rachel Emma Dickinson, Helen Griffin, Venetia Bigley, Louise N. Reynard, Rafiqul Hussain, Muzlifah Haniffa, Jeremy H. Lakey, Thahira Rahman, Xiao-Nong Wang, Naomi McGovern, Sarah Pagan, Sharon Cookson, David McDonald, Ignatius Chua, Jonathan Wallis, Andrew Cant, Michael Wright, Bernard Keavney, Patrick F. Chinnery, John Loughlin, Sophie Hambleton, Mauro Santibanez-Koref, and Matthew Collin Blood Volume 118(10): September 8, 2011 ©2011 by American Society of Hematology

2 Mutations in GATA zinc finger domain.
Mutations in GATA zinc finger domain. GATA zinc finger domains bind DNA in 2 conformations the adjacent and opposite forms. Here, we use the adjacent structure (3DFV).10 (A) Illustrated view of single GATA zinc finger (green) bound to DNA with adjacent GATA molecule in gray. R398 (cyan), T354 (magenta), and zinc ion (yellow) shown in space filling representation. (B) Wild-type R398 shown inserting into minor groove and possible H bonds with DNA bases. (C) R398W mutation modeled. (D) Wild-type T354. (E) T354M mutation modeled showing increased side chain size. Rachel Emma Dickinson et al. Blood 2011;118: ©2011 by American Society of Hematology


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