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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.

Cláudia M B CarvalhoZeynep Coban-AkdemirHadia HijaziBo YuanMatthew PendletonEoghan HarringtonJohn BeaulaurierSissel JuulDaniel J TurnerRupa S KanchiShalini N JhangianiDonna M MuznyRichard A Gibbsnull nullPawel StankiewiczJohn W BelmontChad A ShawSau Wai CheungNeil A HanchardV Reid SuttonPatricia I BaderJames R Lupski
Published in: Genome medicine (2019)
These data provide experimental evidence that, in humans, triplication can lead to segmental UPD and imprinting disease. Importantly, genotype/phenotype analyses further reveal how a post-zygotically generated complex structural variant, resulting from a replication-based mutational mechanism, contributes to expanding the clinical phenotype of known genetic syndromes. Mechanistically, such events can distort transmission genetics resulting in homozygosity at a locus for which only one parent is a carrier as well as cause imprinting diseases.
Keyphrases
  • genome wide
  • electronic health record
  • single cell
  • big data
  • case report
  • dna methylation
  • data analysis