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

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

Abstract Background Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copy-number neutral genomic intervals with runs of homozygosity (...

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Bibliographic Details
Main Authors: Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski
Format: Article
Language:English
Published: BMC 2019-04-01
Series:Genome Medicine
Subjects:
Triplication
DUP-TRP/INV-DUP
Complex genomic rearrangement
MMBIR
Replicative-based mechanism
Inter-homologous chromosomal template switch
Online Access:http://link.springer.com/article/10.1186/s13073-019-0633-y

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http://link.springer.com/article/10.1186/s13073-019-0633-y

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