Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements | Zendy

Claudia M.B. Carvalho | Zendy; Rolph Pfundt | Zendy; Daniel A. King | Zendy; Sarah Lindsay | Zendy; Luciana W. Zuccherato | Zendy; Merryn Macville | Zendy; Pengfei Liu | Zendy; Diana Johnson | Zendy; Paweł Stankiewicz | Zendy; Chester Brown | Zendy; Chad A. Shaw | Zendy; Matthew E. Hurles | Zendy; Grzegorz Ira | Zendy; P. J. Hastings | Zendy; Han G. Brunner | Zendy; James R. Lupski | Zendy

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Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

Author(s) -

Claudia M.B. Carvalho,

Rolph Pfundt,

Daniel A. King,

Sarah Lindsay,

Luciana W. Zuccherato,

Merryn Macville,

Pengfei Liu,

Diana Johnson,

Paweł Stankiewicz,

Chester Brown,

Chad A. Shaw,

Matthew E. Hurles,

Grzegorz Ira,

P. J. Hastings,

Han G. Brunner,

James R. Lupski

Publication year - 2015

Publication title -

the american journal of human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.661

H-Index - 302

eISSN - 1537-6605

pISSN - 0002-9297

DOI - 10.1016/j.ajhg.2015.01.021

Subject(s) - loss of heterozygosity , sister chromatids , uniparental disomy , biology , genetics , chromothripsis , dna replication , computational biology , genome instability , dna , dna damage , gene , chromosome , karyotype , allele

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.

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