Rubinstein-Taybi Syndrome and Epigenetic Alterations

Advances in Experimental Medicine and Biology
Edward Korzus

Abstract

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to severe mental retardation (Rubinstein and Taybi, Am J Dis Child 105:588-608, 1963, Hennekam et al., Am J Med Genet Suppl 6:56-64, 1990). RSTS is caused by de novo mutations in epigenetics-associated genes, including the cAMP response element-binding protein (CREBBP), the gene-encoding protein referred to as CBP, and the EP300 gene, which encodes the p300 protein, a CBP homologue. Recent studies of the epigenetic mechanisms underlying cognitive functions in mice provide direct evidence for the involvement of nuclear factors (e.g., CBP) in the control of higher cognitive functions. In fact, a role for CBP in higher cognitive function is suggested by the finding that RSTS is caused by heterozygous mutations at the CBP locus (Petrij et al., Nature 376:348-351, 1995). CBP was demonstrated to possess an intrinsic histone acetyltransferase activity (Ogryzko et al., Cell 87:953-959, 1996) that is required for CREB-mediated gene expression (Korzus et al., Science 279:703-707, 1998). The intrinsic protein acetyltransferase activity in CBP might directly destabilize promoter-bound nucleos...Continue Reading

Citations

Aug 17, 2019·Learning & Memory·Ashley A Keiser, Marcelo A Wood
Oct 1, 2019·Molecular Genetics & Genomic Medicine·Virginia Pérez-GrijalbaElena Domínguez-Garrido
Dec 25, 2019·Signal Transduction and Targeted Therapy·Yuan ChengXiawei Wei
Jan 31, 2019·Nature Reviews. Neuroscience·Rianne R Campbell, Marcelo A Wood
Dec 17, 2020·Signal Transduction and Targeted Therapy·Yuan ChengXiawei Wei
Jun 15, 2020·Current Opinion in Genetics & Development·Thomas Gonatopoulos-Pournatzis, Benjamin J Blencowe
Aug 25, 2021·Molecular Genetics & Genomic Medicine·Naye ChoiJung Min Ko
Jan 27, 2020·Developmental Neuroscience·Santosh R D'Mello

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