Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.

dc.creatorCarvalho, Claudia Márcia Benedetto de
dc.creatorPfundt, Rolph
dc.creatorKing, Daniel A.
dc.creatorLindsay, Sarah J
dc.creatorZuccherato, Luciana W
dc.creatorMacville, Merryn V E
dc.creatorPengfei, Liu
dc.creatorJohnson, Diana
dc.creatorStankiewicz, Pawel
dc.creatorBrown, Chester W
dc.creatorShaw, Chad A.
dc.creatorHurles, Matthew E.
dc.creatorGrzegorz, Ira
dc.creatorHastings, PJ
dc.creatorBrunner, Han G
dc.creatorLupski, James R.
dc.date2015-12-17T12:29:16Z
dc.date2015-12-17T12:29:16Z
dc.date2015
dc.date.accessioned2023-09-26T22:07:38Z
dc.date.available2023-09-26T22:07:38Z
dc.identifierCARVALHO, Claudia Márcia Benedetto et al. Absence of Heterozygosity due to Template Switching during Replicative Rearrangements. Am J Hum Genet., vol. 96, n. 4, p. 555-64, 2015.
dc.identifier0002-9297
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/12438
dc.identifier10.1016/j.ajhg.2015.01.021
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8875108
dc.descriptionWe investigated complex genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by extended regions of copy-number-neutral absence of heterozygosity (AOH) in subjects with multiple congenital abnormalities. Molecular analyses provided observational evidence that in humans, post-zygotically generated CGRs can lead to regional uniparental disomy (UPD) due to template switches between homologs versus sister chromatids by using microhomology to prime DNA replication—a prediction of the replicative repair model, MMBIR. Our findings suggest that replication-based mechanisms might underlie the formation of diverse types of genomic alterations (CGRs and AOH) implicated in constitutional disorders
dc.formatapplication/pdf
dc.languageeng
dc.publisherAmerican Society of Human Genetics
dc.rightsopen access
dc.subjectDNA Copy Number Variations/genetics
dc.subjectModels, Genetic
dc.subjectPolymorphism, Single Nucleotide/genetics
dc.subjectSequence Analysis, DNA
dc.titleAbsence of Heterozygosity due to Template Switching during Replicative Rearrangements.
dc.typeArticle


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