AJHG publication: Mutations in CTCF

Oti _Kouwenhoven

De Novo mutations in the genome organizer CTCF cause intellectual disability

In the coming issue of American Journal of Human Genetics, Dr. Jo H. Zhou's Group (Martin Oti and Evelyn N. Kouwenhoven), together with Dr. Zweier's group in Erlanger, reported the first mutations in the genome organizer CTCF associated with human diseases. CCCTC-binding factor CTCF is an important chromatin organizer involved in a wide range of gene regulation processes such as maintaining three-dimensional chromatin structure, imprinting, X-inactivation and nucleosome positioning. Trio exome sequencing and subsequent mutational screening identified two de novo frameshift mutations and one de novo missense mutation in the CTCF gene in individuals with intellectual disability, microcephaly and growth retardation. Transcriptome analyses in all three patients with point mutations revealed deregulation of highly expressed genes involved in signal transduction and emphasized the role of CTCF in enhancer-driven expression of genes. PMID:23746550 http://www.ncbi.nlm.nih.gov/pubmed/23746550



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