期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 96, 期 4, 页码 555-564出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2015.01.021
关键词
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资金
- US National Institute of Neurological Disorders and Stroke [R01NS058529]
- National Institute of General Medical Sciences [RO1GM106373, R01GM080600]
- National Human Genome Research Institute/National Heart Blood Lung Institute - Baylor Hopkins Center for Mendelian Genomics [U54HG006542, 402520/2012-2]
- National Human Genome Research Institute/National Heart Blood Lung Institute - Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) [U54HG006542, 402520/2012-2]
- Health Innovation Challenge Fund [HICF-1009-003]
- Wellcome Trust
- Department of Health
- Cambridge South REC [10/H0305/83]
- National Institute for Health Research, through the Comprehensive Clinical Research Network
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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