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

@article{Kloosterman2011ChromothripsisAA,
  title={Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.},
  author={W. Kloosterman and V. Guryev and M. van Roosmalen and K. Dur{\'a}n and E. de Bruijn and S. Bakker and T. Letteboer and B. V. van Nesselrooij and R. Hochstenbach and M. Poot and E. Cuppen},
  journal={Human molecular genetics},
  year={2011},
  volume={20 10},
  pages={
          1916-24
        }
}
A variety of mutational mechanisms shape the dynamic architecture of human genomes and occasionally result in congenital defects and disease. Here, we used genome-wide long mate-pair sequencing to systematically screen for inherited and de novo structural variation in a trio including a child with severe congenital abnormalities. We identified 4321 inherited structural variants and 17 de novo rearrangements. We characterized the de novo structural changes to the base-pair level revealing a… Expand
236 Citations
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
  • 175
  • PDF
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome
  • 8
  • Highly Influenced
Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis
  • 15
Chromothripsis: A New Mechanism for Rapid Karyotype Evolution.
  • 118
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2
  • 25
  • PDF
A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains
  • 23
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 46 REFERENCES
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
  • 152
  • PDF
A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
  • 84
A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
  • 679
  • Highly Influential
  • PDF
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
  • 294
Mapping translocation breakpoints by next-generation sequencing.
  • 129
  • PDF
A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders
  • 792
  • Highly Influential
  • PDF
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
  • 234
...
1
2
3
4
5
...