Ontology highlight
ABSTRACT:
SUBMITTER: Voss AK
PROVIDER: S-EPMC3442180 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Voss Anne K AK Vanyai Hannah K HK Collin Caitlin C Dixon Mathew P MP McLennan Tamara J TJ Sheikh Bilal N BN Scambler Peter P Thomas Tim T
Developmental cell 20120823 3
DiGeorge syndrome, caused by a 22q11 microdeletion or mutation of the TBX1 gene, varies in severity greatly, even among monozygotic twins. Epigenetic phenomena have been invoked to explain phenotypic differences in individuals of identical genetic composition, although specific chromatin modifications relevant to DiGeorge syndrome are elusive. Here we show that lack of the histone acetyltransferase MOZ (MYST3/KAT6A) phenocopies DiGeorge syndrome, and the MOZ complex occupies the Tbx1 locus, prom ...[more]