Literature DB >> 25799105

Absence of heterozygosity due to template switching during replicative rearrangements.

Claudia M B Carvalho1, Rolph Pfundt2, Daniel A King3, Sarah J Lindsay3, Luciana W Zuccherato4, Merryn V E Macville5, Pengfei Liu4, Diana Johnson6, Pawel Stankiewicz4, Chester W Brown7, Chad A Shaw4, Matthew E Hurles3, Grzegorz Ira4, P J Hastings4, Han G Brunner8, James R Lupski9.   

Abstract

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.
Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2015        PMID： 25799105      PMCID： PMC4385179          DOI： 10.1016/j.ajhg.2015.01.021

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  36 in total

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3.  Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

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4.  Defective break-induced replication leads to half-crossovers in Saccharomyces cerevisiae.

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Journal:  Genetics       Date:  2008-08-09       Impact factor: 4.562

5.  Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

Authors:  Pengfei Liu; Violet Gelowani; Feng Zhang; Vivian E Drory; Shay Ben-Shachar; Erin Roney; Adam C Medeiros; Rebecca J Moore; Christina DiVincenzo; William B Burnette; Joseph J Higgins; Jun Li; Avi Orr-Urtreger; James R Lupski
Journal:  Am J Hum Genet       Date:  2014-02-13       Impact factor: 11.025

6.  The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

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Journal:  Nat Genet       Date:  2009-06-21       Impact factor: 38.330

7.  Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Authors:  Claudia M B Carvalho; Melissa B Ramocki; Davut Pehlivan; Luis M Franco; Claudia Gonzaga-Jauregui; Ping Fang; Alanna McCall; Eniko Karman Pivnick; Stacy Hines-Dowell; Laurie H Seaver; Linda Friehling; Sansan Lee; Rosemarie Smith; Daniela Del Gaudio; Marjorie Withers; Pengfei Liu; Sau Wai Cheung; John W Belmont; Huda Y Zoghbi; P J Hastings; James R Lupski
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8.  On the mechanism of gene amplification induced under stress in Escherichia coli.

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9.  A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.

Authors:  Daniel A King; Tomas W Fitzgerald; Ray Miller; Natalie Canham; Jill Clayton-Smith; Diana Johnson; Sahar Mansour; Fiona Stewart; Pradeep Vasudevan; Matthew E Hurles
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  27 in total

1.  2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

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Journal:  Am J Hum Genet       Date:  2019-03-07       Impact factor: 11.025

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Journal:  Crit Rev Biochem Mol Biol       Date:  2017-04-21       Impact factor: 8.250

Review 3.  Mechanisms underlying structural variant formation in genomic disorders.

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Review 5.  Structural variation mutagenesis of the human genome: Impact on disease and evolution.

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Journal:  Environ Mol Mutagen       Date:  2015-04-17       Impact factor: 3.216

6.  Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.

Authors:  Ling Zhang; Jingmin Wang; Cheng Zhang; Dongxiao Li; Claudia M B Carvalho; Haoran Ji; Jianqiu Xiao; Ye Wu; Weichen Zhou; Hongyan Wang; Li Jin; Yang Luo; Xiru Wu; James R Lupski; Feng Zhang; Yuwu Jiang
Journal:  Hum Mol Genet       Date:  2017-05-15       Impact factor: 6.150

7.  Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

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Journal:  Cell       Date:  2019-02-28       Impact factor: 41.582

8.  The Cyclically Seasonal Drosophila subobscura Inversion O7 Originated From Fragile Genomic Sites and Relocated Immunity and Metabolic Genes.

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Review 9.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors:  Martin Poot; Thomas Haaf
Journal:  Mol Syndromol       Date:  2015-08-15

10.  Replication stress at microsatellites causes DNA double-strand breaks and break-induced replication.

Authors:  Rujuta Yashodhan Gadgil; Eric J Romer; Caitlin C Goodman; S Dean Rider; French J Damewood; Joanna R Barthelemy; Kazuo Shin-Ya; Helmut Hanenberg; Michael Leffak
Journal:  J Biol Chem       Date:  2020-09-01       Impact factor: 5.157
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