Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
| العنوان: | Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome |
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| المؤلفون: | James R. Lupski, Claudia M.B. Carvalho, Marjorie Withers, Ping Fang, Rosemarie Smith, Sansan Lee, P. J. Hastings, Alanna E. McCall, Claudia Gonzaga-Jauregui, Huda Y. Zoghbi, Luis M. Franco, Linda Friehling, Sau Wai Cheung, Stacy Hines-Dowell, Pengfei Liu, Davut Pehlivan, Melissa B. Ramocki, Daniela del Gaudio, Laurie H. Seaver, John W. Belmont, Eniko K. Pivnick |
| المصدر: | Nature genetics |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | congenital, hereditary, and neonatal diseases and abnormalities, Inverted repeat, Methyl-CpG-Binding Protein 2, Biology, Genome, Polymorphism, Single Nucleotide, Article, complex rearrangements, Structural variation, 03 medical and health sciences, inversion, PLP1, Gene duplication, Genetics, Humans, 030304 developmental biology, Genomic organization, Repetitive Sequences, Nucleic Acid, Gene Rearrangement, 0303 health sciences, Genome, Human, 030305 genetics & heredity, Breakpoint, BIR, Gene rearrangement, MMBIR, MECP2, duplication, Phenotype, Human genome |
| الوصف: | We identified complex genomic rearrangements consisting of intermixed duplications and triplications of genomic segments at both the MECP2 and PLP1 loci. These complex rearrangements were characterized by a triplicated segment embedded within a duplication in 12 unrelated subjects. Interestingly, only two novel breakpoint junctions were generated during each rearrangement formation. Remarkably, all the complex rearrangement products share the common genomic organization duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) wherein the triplicated segment is inverted and located between directly oriented duplicated genomic segments. We provide evidence that the DUP-TRP/INV-DUP structures are mediated by inverted repeats that can be separated by over 300 kb; a genomic architecture that apparently leads to susceptibility to such complex rearrangements. A similar inverted repeat mediated mechanism may underlie structural variation in many other regions of the human genome. We propose a mechanism that involves both homology driven, via inverted repeats, and microhomologous/nonhomologous events. |
| اللغة: | English |
| تدمد: | 1546-1718 1061-4036 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74413a8726ee5086f0a13f12ee2ac0fb http://europepmc.org/articles/PMC3235474 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....74413a8726ee5086f0a13f12ee2ac0fb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15461718 10614036 |
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