Absence of heterozygosity due to template switching during replicative rearrangements

Authors :: Carvalho, C.M.
Pfundt, R.
King, D.A.
Lindsay, S.J.
Zuccherato, L.W.
Macville, M.V.
Liu, P.
Johnson, D.
Stankiewicz, P.
Brown, C.W.
Shaw, C.A.
Hurles, M.E.
Ira, G.
Hastings, P.J.
Brunner, H.G.
Lupski, J.R.
Carvalho, C.M.
Pfundt, R.
King, D.A.
Lindsay, S.J.
Zuccherato, L.W.
Macville, M.V.
Liu, P.
Johnson, D.
Stankiewicz, P.
Brown, C.W.
Shaw, C.A.
Hurles, M.E.
Ira, G.
Hastings, P.J.
Brunner, H.G.
Lupski, J.R.
Source :: American Journal of Human Genetics; 555; 564; 0002-9297; 4; 96; ~American Journal of Human Genetics~555~564~~~0002-9297~4~96~~
Publication Year :: 2015
Abstract: Item does not contain fulltext<br />We 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.

Database :: OAIster
Journal :: American Journal of Human Genetics; 555; 564; 0002-9297; 4; 96; ~American Journal of Human Genetics~555~564~~~0002-9297~4~96~~
Publication Type :: Electronic Resource
Accession number :: edsoai.on1284065677
Document Type :: Electronic Resource

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