Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome
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چکیده
منابع مشابه
CBP histone acetyltransferase activity regulates embryonic neural differentiation in the normal and Rubinstein-Taybi syndrome brain.
Increasing evidence indicates that epigenetic changes regulate cell genesis. Here, we ask about neural precursors, focusing on CREB binding protein (CBP), a histone acetyltransferase that, when haploinsufficient, causes Rubinstein-Taybi syndrome (RTS), a genetic disorder with cognitive dysfunction. We show that neonatal cbp(+/-) mice are behaviorally impaired, displaying perturbed vocalization ...
متن کاملNew CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.
To the Editor : Rubinstein–Taybi syndrome (RTS) is a rare autosomal dominant disease (OMIM 180849), characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency (1). RTSs has been associated with creb binding protein (CBP ) mutations and less frequently with EP300 mutations (2). CBP and p300 have high homology and are critical for many signaling pathways, espe...
متن کاملThe Rubinstein-Taybi syndrome.
The Rubinstein-Taybi syndrome was first described in 1963. The main clinical features are mental retardation, broad thumbs and great toes, a characteristic facies, and a high-arched palate. Rubinstein and Taybi (1963) described 7 cases in the United States. Since then, small groups of patients and single examples of this syndrome have been reported in the United States (Coffin, 1964; Taybi and ...
متن کاملRubinstein Taybi syndrome.
Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by facial dysmorphism, growth retardation and mental deficiency. A ten-year-old boy who had come to the Department of Pedodontics, Ragas Dental College, Chennai, with the chief complaint of unaesthetic appearance with extra teeth revealed delay in the developmental milestones. The patien...
متن کاملRubinstein-Taybi syndrome.
This is a rare cause of mental handicap. Case finding studies in several English speaking countries have found about one case per 300 institutionalised subjects.3 Assuming that at that time about 1 per 1000 of the general population required institutionalisation the population frequency would be about 1 in 300 000. Sex ratio, j3arental ages, pregnancy history, and birth weights have been unrema...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2001
ISSN: 1460-2083
DOI: 10.1093/hmg/10.10.1071