Brain & development · 2001
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis M L, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, Macdonald F, Kerr A, Dhanjal S, Hulten M
Аннотация
Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to be the most common genetic cause of profound combined intellectual and physical disability in Caucasian females. This syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of unknown target genes. We report a detailed mutational analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted us to produce a hot spot map of the mutations identified. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors.
Предметные рубрики MeSH
AdolescentAdultAmino Acid SequenceBase SequenceChildChild, PreschoolChromosomal Proteins, Non-HistoneChromosome MappingComputational BiologyDNA Mutational AnalysisDNA-Binding ProteinsFemaleForkhead Transcription FactorsHumansInfantInfant, NewbornItalyMethyl-CpG-Binding Protein 2Molecular Sequence DataMutationNuclear ProteinsProtein Structure, TertiaryRepressor ProteinsRett SyndromeTranscription FactorsUnited Kingdom