title: When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.
abstract: Floating-Harbor syndrome (FHS) is a rare human disease characterised by delayed bone mineralisation and growth deficiency, often associated with mental retardation and skeletal and craniofacial abnormalities. FHS was first described at Boston's Floating Hospital 42 years ago, but the causative gene, called Srcap, was identified only recently. Truncated SRCAP protein variants have been implicated in the mechanism of FHS, but the molecular bases underlying the disease must still be elucidated and investigating the molecular defects leading to the onset of FHS remains a challenge. Here we comprehensively review recent work and provide alterative hypotheses to explain how the Srcap truncating mutations lead to the onset of FHS.
authors.affiliation: Istituto Pasteur Italia-Fondazione Cenci Bolognetti, Dipartimento di Biologia e Biotecnologie "Charles Darwin", Sapienza Università di Roma, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Messina
authors.affiliation: Istituto Pasteur Italia-Fondazione Cenci Bolognetti, Dipartimento di Biologia e Biotecnologie "Charles Darwin", Sapienza Università di Roma, Italy.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Atterrato
authors.affiliation: Istituto Pasteur Italia-Fondazione Cenci Bolognetti, Dipartimento di Biologia e Biotecnologie "Charles Darwin", Sapienza Università di Roma, Italy.
authors.forename: Patrizio
authors.initials: P
authors.lastname: Dimitri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism*; D000251:Adenosine Triphosphatases / Q000235:genetics*; D042002:Chromatin Assembly and Disassembly; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000378:metabolism*; D006130:Growth Disorders / Q000235:genetics / Q000378:metabolism*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D009154:Mutation
chemical_list: D000251:Adenosine Triphosphatases; C119652:SRCAP protein, human
keywords: Chromatin organization; Epigenetics; Genetic diseases; SRCAP chromatin-remodelling complex