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

Vogt, Julia; Bengesser, Kathrin; Claes, Kathleen Bm; Wimmer, Katharina; Mautner, Victor-Felix; van Minkelen, Rick; Legius, Eric; Brems, Hilde; Upadhyaya, Meena; Högel, Josef; Lazaro, Conxi; Rosenbaum, Thorsten; Bammert, Simone; Messiaen, Ludwine; Cooper, David N; Kehrer-Sawatzki, Hildegard

doi:10.1186/gb-2014-15-6-r80

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

Author:

Vogt, Julia

Bengesser, Kathrin ; Claes, Kathleen Bm ; Wimmer, Katharina ; Mautner, Victor-Felix ; van Minkelen, Rick ; Legius, Eric ; Brems, Hilde ; Upadhyaya, Meena ; Högel, Josef ; Lazaro, Conxi ; Rosenbaum, Thorsten ; Bammert, Simone ; Messiaen, Ludwine ; Cooper, David N ; Kehrer-Sawatzki, Hildegard

Keywords:

Science & Technology, Life Sciences & Biomedicine, Biotechnology & Applied Microbiology, Genetics & Heredity, NONALLELIC HOMOLOGOUS RECOMBINATION, DOUBLE-STRAND BREAKS, B DNA CONFORMATIONS, LARGE NF1 DELETIONS, L1 RETROTRANSPOSITION, NEUROFIBROMATOSIS TYPE-1, INVERTED REPEATS, SOMATIC RETROTRANSPOSITION, LINE-1 RETROTRANSPOSITION, COMPLEX REARRANGEMENTS, Base Sequence, Chromosome Breakpoints, Comparative Genomic Hybridization, DNA Copy Number Variations, Genome, Human, Humans, Mutagenesis, Insertional, Neoplasm Proteins, Neurofibromatosis 1, Neurofibromin 1, Polycomb Repressive Complex 2, Retroelements, Sequence Deletion, Telomere, Transcription Factors, 05 Environmental Sciences, 06 Biological Sciences, 08 Information and Computing Sciences, Bioinformatics

Abstract:

Genomic disorders are caused by copy number changes that may exhibit recurrent breakpoints processed by nonallelic homologous recombination. However, region-specific disease-associated copy number changes have also been observed which exhibit non-recurrent breakpoints. The mechanisms underlying these non-recurrent copy number changes have not yet been fully elucidated.