| Автор | Inoue, Ken |
| Автор | Lupski, James R. |
| Дата выпуска | 2002 |
| dc.description | ▪ Abstract Genomic rearrangements play a major role in the pathogenesis of human genetic diseases. Nonallelic homologous recombination (NAHR) between low-copy repeats (LCRs) that flank unique genomic segments results in changes of genome organization and can cause a loss or gain of genomic segments. These LCRs appear to have arisen recently during primate speciation via paralogous segmental duplication, thus making the human species particularly susceptible to genomic rearrangements. Genomic disorders are defined as a group of diseases that result from genomic rearrangements, mostly mediated by NAHR. Molecular investigations of genomic disorders have revealed genome architectural features associated with susceptibility to rearrangements and the recombination mechanisms responsible for such rearrangements. The human genome sequence project reveals that LCRs may account for 5% of the genome, suggesting that many novel genomic disorders might still remain to be recognized. |
| Формат | application.pdf |
| Издатель | Annual Reviews |
| Копирайт | Annual Reviews |
| Название | MOLECULAR MECHANISMS FOR GENOMIC DISORDERS |
| DOI | 10.1146/annurev.genom.3.032802.120023 |
| Print ISSN | 1527-8204 |
| Журнал | Annual Review of Genomics and Human Genetics |
| Том | 3 |
| Первая страница | 199 |
| Последняя страница | 242 |
| Аффилиация | Inoue, Ken; Departments of Molecular and Human Genetics1, Baylor College of Medicine, Houston, Texas 77030; email: kinoue@bcm.tmc.edu |
