Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2015 |
| Outros Autores: | , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/12447 |
Resumo: | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, United States of America |
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Beck, Christine R.Carvalho, Claudia Márcia Benedetto deBanser, LindaGambin, TomaszStubbolo, DanielleYuan, BoSperle, KarenMcCahan, Suzanne M.Henneke, MarcoSeeman, PavelGarbern, James Y.Hobson, Grace M.Lupski, James R.2015-12-18T17:42:09Z2015-12-18T17:42:09Z2015BECK, Christine R. et al. Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication. PLoS Genet., vol.11, n. 3. p. e1005050, 20151553-7390https://www.arca.fiocruz.br/handle/icict/1244710.1371/journal.pgen.1005050. eCollection 2015.engPublic Library of ScienceComplex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplicationinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleBaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, United States of AmericaBaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, United States of America/Fundação Oswaldo Cruz. Centro de Pesquisa Rene Rachou. Belo Horizonte, MG, BrasilAlfred I. duPont Hospital for Children. Nemours Biomedical Research. Wilmington, DE, United States of AmericaBaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, United States of AmericaAlfred I. duPont Hospital for Children. Nemours Biomedical Research. Wilmington, DE, United States of AmericaBaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, United States of AmericaAlfred I. duPont Hospital for Children. Nemours Biomedical Research. Wilmington, DE, United States of AmericaAlfred I. duPont Hospital for Children. Nemours Biomedical Research. Wilmington, DE, United States of America/Thomas Jefferson University. Jefferson Medical College. Philadelphia, PA, United States of AmericaGeorg August University. University Medical Center Göttingen. Division of Pediatric Neurology. Department of Pediatrics and Adolescent Medicine. Göttingen, GermanyCharles University and Motol University Hospital. 2nd Faculty of Medicine. Department of Pediatric Neurology. DNA Laboratory. Prague, Czech RepublicUniversity of Rochester Medical Center. Rochester, NY, United States of AmericaAlfred I. duPont Hospital for Children. Nemours Biomedical Research. Wilmington, DE, United States of America/Thomas Jefferson University. Jefferson Medical College. Philadelphia, PA, United States of America/University of Delaware.Department of Biological Sciences. Newark, DA, United States of AmericaBaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, United States of America/Baylor College of Medicine. Department of Pediatrics and Human Genome Sequencing Center. Houston, TX, United States of America/Texas Children ’s Hospital, Houston. TX, United States of AmericaInverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication—inverted triplication—duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently associated with both MECP2 duplication syndrome (MIM#300260) and Pelizaeus-Merzbacher disease (PMD, MIM#312080). We investigated 17 unrelated PMD subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific genomic intervals—16/17 were found to have a DUP-TRP/INV-DUP rearrangement product. An IR distal to PLP1 facilitates DUP-TRP/INV-DUP formation as well as an inversion structural variation found frequently amongst normal individuals. We show that a homology—or homeology—driven replicative mechanism of DNA repair can apparently mediate template switches within stretches of microhomology. Moreover, we provide evidence that quadruplication and potentially higher order amplification of a genomic interval can occur in a manner consistent with rolling circle amplification as predicted by the microhomology-mediated break induced replication (MMBIR)Polymerase chain reactionHaplotypesSouthern blotHuman genomicsCloningGenomic librariesGenotypingX chromosomesinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/12447/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALComplex genomic rearrangements at the PLP1 locus include triplication and quadruplication.pdfComplex genomic rearrangements at the PLP1 locus include triplication and quadruplication.pdfapplication/pdf10586124https://www.arca.fiocruz.br/bitstream/icict/12447/2/Complex%20genomic%20rearrangements%20at%20the%20PLP1%20locus%20include%20triplication%20and%20quadruplication.pdf81d908113b1816f6f5429908832dd4f3MD52TEXTComplex genomic rearrangements at the PLP1 locus include triplication and quadruplication.pdf.txtComplex genomic rearrangements at the PLP1 locus include triplication and quadruplication.pdf.txtExtracted texttext/plain1084https://www.arca.fiocruz.br/bitstream/icict/12447/3/Complex%20genomic%20rearrangements%20at%20the%20PLP1%20locus%20include%20triplication%20and%20quadruplication.pdf.txtc944c20ceefe3e147ea188fe1ed880bcMD53icict/124472019-06-19 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| dc.title.pt_BR.fl_str_mv |
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication |
| title |
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication |
| spellingShingle |
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication Beck, Christine R. Polymerase chain reaction Haplotypes Southern blot Human genomics Cloning Genomic libraries Genotyping X chromosomes |
| title_short |
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication |
| title_full |
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication |
| title_fullStr |
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication |
| title_full_unstemmed |
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication |
| title_sort |
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication |
| author |
Beck, Christine R. |
| author_facet |
Beck, Christine R. Carvalho, Claudia Márcia Benedetto de Banser, Linda Gambin, Tomasz Stubbolo, Danielle Yuan, Bo Sperle, Karen McCahan, Suzanne M. Henneke, Marco Seeman, Pavel Garbern, James Y. Hobson, Grace M. Lupski, James R. |
| author_role |
author |
| author2 |
Carvalho, Claudia Márcia Benedetto de Banser, Linda Gambin, Tomasz Stubbolo, Danielle Yuan, Bo Sperle, Karen McCahan, Suzanne M. Henneke, Marco Seeman, Pavel Garbern, James Y. Hobson, Grace M. Lupski, James R. |
| author2_role |
author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Beck, Christine R. Carvalho, Claudia Márcia Benedetto de Banser, Linda Gambin, Tomasz Stubbolo, Danielle Yuan, Bo Sperle, Karen McCahan, Suzanne M. Henneke, Marco Seeman, Pavel Garbern, James Y. Hobson, Grace M. Lupski, James R. |
| dc.subject.en.pt_BR.fl_str_mv |
Polymerase chain reaction Haplotypes Southern blot Human genomics Cloning Genomic libraries Genotyping X chromosomes |
| topic |
Polymerase chain reaction Haplotypes Southern blot Human genomics Cloning Genomic libraries Genotyping X chromosomes |
| description |
Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, United States of America |
| publishDate |
2015 |
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2015-12-18T17:42:09Z |
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2015-12-18T17:42:09Z |
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2015 |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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BECK, Christine R. et al. Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication. PLoS Genet., vol.11, n. 3. p. e1005050, 2015 |
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https://www.arca.fiocruz.br/handle/icict/12447 |
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1553-7390 |
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10.1371/journal.pgen.1005050. eCollection 2015. |
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BECK, Christine R. et al. Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication. PLoS Genet., vol.11, n. 3. p. e1005050, 2015 1553-7390 10.1371/journal.pgen.1005050. eCollection 2015. |
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