| Автор | Lalande, M. |
| Дата выпуска | 1996 |
| dc.description | ▪ Abstract Parental imprinting is a process that results in allele-specific differences in transcription, DNA methylation, and DNA replication timing. Imprinting plays an important role in development, and its deregulation can cause certain defined disease states. Absence of a paternal contribution to chromosome 15q11–q13, due to hemizygous deletion or uniparental disomy, results in the Prader-Willi syndrome. The absence of a normal maternal copy of the same region causes Angelman syndrome. The Beckwith-Wiedemann syndrome is associated with the failure of normal biparental inheritance of chromosome 11p15, and loss of imprinting is observed in several cancers including Wilms' tumor. The study of the molecular basis of abnormal imprinting in these disorders will facilitate the identification and characterization of other imprinted human disease loci. |
| Формат | application.pdf |
| Издатель | Annual Reviews |
| Копирайт | Annual Reviews |
| Название | PARENTAL IMPRINTING AND HUMAN DISEASE |
| DOI | 10.1146/annurev.genet.30.1.173 |
| Print ISSN | 0066-4197 |
| Журнал | Annual Review of Genetics |
| Том | 30 |
| Первая страница | 173 |
| Последняя страница | 195 |
| Аффилиация | Lalande, M.; Howard Hughes Medical Institute, Genetics Division, Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115 lalande@rascal.med.harvard.edu |
