Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

A germline chromothripsis event stably segregating in 11 individuals through three generations

(2015) Birgitte Bertelsen et al.   GENETICS IN MEDICINE

Chromothripsis from DNA damage in micronuclei

(2015) Cheng-Zhong Zhang et al.   NATURE

Genomics of uterine leiomyomas: insights from high-throughput sequencing

(2014) Miika Mehine et al.   FERTILITY AND STERILITY

Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing

(2014) E. Helman et al.   GENOME RESEARCH

Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

(2014) J. M. C. Tubio et al.   SCIENCE

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

(2014) Julia Vogt et al.   GENOME BIOLOGY

Endogenous Retrotransposition Activates Oncogenic Pathways in Hepatocellular Carcinoma

(2013) Ruchi Shukla et al.   CELL

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

(2013) Lusine Nazaryan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms

(2013) A. Malhotra et al.   GENOME RESEARCH

Characterization of two deletions of the CTRC locus

(2013) Emmanuelle Masson et al.   MOLECULAR GENETICS AND METABOLISM

Alu elements: an intrinsic source of human genome instability

(2013) Catherine Ade et al.   Current Opinion in Virology

Human Genomic Deletions Generated by SVA-Associated Events

(2012) Jungnam Lee et al.   COMPARATIVE AND FUNCTIONAL GENOMICS

Active human retrotransposons: variation and disease

(2012) Dustin C Hancks et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Extensive somatic L1 retrotransposition in colorectal tumors

(2012) S. Solyom et al.   GENOME RESEARCH

Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene

(2012) Ana Peixoto et al.   JOURNAL OF HUMAN GENETICS

DNA breaks and chromosome pulverization from errors in mitosis

(2012) Karen Crasta et al.   NATURE

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(2012) Colby Chiang et al.   NATURE GENETICS

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Landscape of Somatic Retrotransposition in Human Cancers

(2012) E. Lee et al.   SCIENCE

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

(2012) Wigard P. Kloosterman et al.   Cell Reports

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

(2011) Wigard P. Kloosterman et al.   HUMAN MOLECULAR GENETICS

Retrotransposition of marked SVA elements by human L1s in cultured cells

(2011) Dustin C. Hancks et al.   HUMAN MOLECULAR GENETICS

The non-autonomous retrotransposon SVA is trans -mobilized by the human LINE-1 protein machinery

(2011) Julija Raiz et al.   NUCLEIC ACIDS RESEARCH

Similarities between long interspersed element-1 (LINE-1) reverse transcriptase and telomerase

(2011) H. C. Kopera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans

(2011) Chip Stewart et al.   PLoS Genetics

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

(2011) Wigard P Kloosterman et al.   GENOME BIOLOGY

The Mechanism of Double-Strand DNA Break Repair by the Nonhomologous DNA End-Joining Pathway

(2010) Michael R. Lieber   Annual Review of Biochemistry

Mobile element scanning (ME-Scan) by targeted high-throughput sequencing

(2010) David J Witherspoon et al.   BMC GENOMICS

LINE-1 Retrotransposition Activity in Human Genomes

(2010) Christine R. Beck et al.   CELL

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

(2010) Cheng Ran Lisa Huang et al.   CELL

Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons

(2010) Rebecca C. Iskow et al.   CELL

Whole-genome resequencing allows detection of many rare LINE-1 insertion alleles in humans

(2010) A. D. Ewing et al.   GENOME RESEARCH

High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes

(2010) A. D. Ewing et al.   GENOME RESEARCH

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

(2010) Naoya Morisada et al.   PEDIATRIC NEPHROLOGY

Internal priming: An opportunistic pathway for L1 and Alu retrotransposition in hominins

(2009) Deepa Srikanta et al.   GENE

L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism

(2009) H. Kano et al.   GENES & DEVELOPMENT

Mobile elements create structural variation: Analysis of a complete human genome

(2009) J. Xing et al.   GENOME RESEARCH

Retrotransposon RNA expression and evidence for retrotransposition events in human oocytes

(2009) I. Georgiou et al.   HUMAN MOLECULAR GENETICS

Homologous recombination in DNA repair and DNA damage tolerance

(2008) Xuan Li et al.   CELL RESEARCH

Chromosomal Inversions between Human and Chimpanzee Lineages Caused by Retrotransposons

(2008) Jungnam Lee et al.   PLoS One

MMEJ repair of double-strand breaks (director’s cut): deleted sequences and alternative endings

(2008) Mitch McVey et al.   TRENDS IN GENETICS