PLX039416

GSE89010: Haploinsufficiency of Ehmt1 or Ehmt2 is associated with an unexpected increase in H3k9 methylation

• Organsim mouse
• Type RNASEQ
• Target gene
• Project ARCHS4

Kleefstra syndrome is human intellectual disability (ID) syndrome caused by haploinsufficiency of the gene Ehmt1. The core features of this disease include severe mental retardation, autistic-like behavioral problems, developmental delay, childhood hypotonia and craniofacial abnormalities. Here, we profiled the epigenome of wild-type, Ehmt1+/- and Ehmt2+/- adult hippocampus, the main control hub for learning and memory, according to the IHEC (international human epigenome consortium) reference standards. As a result, comparative analysis of Ehmt1+/- and Ehmt2+/- epigenomes led us to hypothesize that kleefstra syndrome could belong to a novel, larger class of developmental ID disorders caused by aberrant repression of protocadherins. SOURCE: giovanni iaconoHolger Heyn CNAG,Centro Nacional de Análisis Genómico