Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

被引：43

作者：

Carvalho, Claudia M. B. ^{[1
,2
]}

Pfundt, Rolph ^{[3
]}

King, Daniel A. ^{[4
]}

Lindsay, Sarah J. ^{[4
]}

Zuccherato, Luciana W. ^{[1
]}

Macville, Merryn V. E. ^{[5
]}

Liu, Pengfei ^{[1
]}

Johnson, Diana ^{[6
]}

Stankiewicz, Pawel ^{[1
]}

Brown, Chester W. ^{[1
,7
,8
]}

Shaw, Chad A. ^{[1
]}

Hurles, Matthew E. ^{[4
]}

Ira, Grzegorz ^{[1
]}

Hastings, P. J. ^{[1
]}

Brunner, Han G. ^{[3
,5
]}

Lupski, James R. ^{[1
,7
,8
,9
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Fiocruz MS, Ctr Pesquisas Rene Rachou, BR-30190002 Belo Horizonte, MG, Brazil

[3] Radboud Univ Nijmegen, Inst Mol Life Sci, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands

[4] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[5] Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands

[6] Sheffield Childrens NHS Fdn Trust, Sheffield Genet Serv, Sheffield S10 2TH, S Yorkshire, England

[7] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[8] Texas Childrens Hosp, Houston, TX 77030 USA

[9] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2015年 / 96卷 / 04期

基金：

英国惠康基金;

关键词：

BREAK-INDUCED REPLICATION; LOW-COPY REPEATS; UNIPARENTAL DISOMY; DNA-REPLICATION; NONRECURRENT REARRANGEMENTS; GENOMIC REARRANGEMENTS; INVERTED REPEATS; MECHANISM; TRIPLICATION; RECOMBINATION;

D O I：

10.1016/j.ajhg.2015.01.021

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：555 / 564

页数：10

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