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AutorBeck, Christine R.
AutorCarvalho, Claudia Márcia Benedetto de
AutorBanser, Linda
AutorGambin, Tomasz
AutorStubbolo, Danielle
AutorYuan, Bo
AutorSperle, Karen
AutorMcCahan, Suzanne M.
AutorHenneke, Marco
AutorSeeman, Pavel
AutorGarbern, James Y.
AutorHobson, Grace M.
AutorLupski, James R.
Data de acesso2015-12-18T17:42:09Z
Data de disponibilização2015-12-18T17:42:09Z
Data do publicação2015
CitaçãoBECK, Christine R. et al. Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication. PLoS Genet., vol.11, n. 3. p. e1005050, 2015pt_BR
ISSN1553-7390
URIhttps://www.arca.fiocruz.br/handle/icict/12447
Idiomaengpt_BR
EditorPublic Library of Sciencept_BR
Direito Autoralopen accesspt_BR
TítuloComplex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplicationpt_BR
Tipo do documentoArticlept_BR
DOI10.1371/journal.pgen.1005050. eCollection 2015.
Resumo em InglêsInverted 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)pt_BR
AfiliaçãoBaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, United States of Americapt_BR
AfiliaçãoBaylor 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, Brasilpt_BR
AfiliaçãoAlfred I. duPont Hospital for Children. Nemours Biomedical Research. Wilmington, DE, United States of Americapt_BR
AfiliaçãoBaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, United States of Americapt_BR
AfiliaçãoAlfred I. duPont Hospital for Children. Nemours Biomedical Research. Wilmington, DE, United States of Americapt_BR
AfiliaçãoBaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, United States of Americapt_BR
AfiliaçãoAlfred I. duPont Hospital for Children. Nemours Biomedical Research. Wilmington, DE, United States of Americapt_BR
AfiliaçãoAlfred 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 Americapt_BR
AfiliaçãoGeorg August University. University Medical Center Göttingen. Division of Pediatric Neurology. Department of Pediatrics and Adolescent Medicine. Göttingen, Germanypt_BR
AfiliaçãoCharles University and Motol University Hospital. 2nd Faculty of Medicine. Department of Pediatric Neurology. DNA Laboratory. Prague, Czech Republicpt_BR
AfiliaçãoUniversity of Rochester Medical Center. Rochester, NY, United States of Americapt_BR
AfiliaçãoAlfred 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 Americapt_BR
AfiliaçãoBaylor 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 Americapt_BR
Palavras-chave em inglêsPolymerase chain reactionpt_BR
Palavras-chave em inglêsHaplotypespt_BR
Palavras-chave em inglêsSouthern blotpt_BR
Palavras-chave em inglêsHuman genomicspt_BR
Palavras-chave em inglêsCloningpt_BR
Palavras-chave em inglêsGenomic librariespt_BR
Palavras-chave em inglêsGenotypingpt_BR
Palavras-chave em inglêsX chromosomespt_BR


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