23 research outputs found
Complex Reorganization and Predominant Non-Homologous Repair Following Chromosomal Breakage in Karyotypically Balanced Germline Rearrangements and Transgenic Integration
We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically-interpreted translocations and inversions. We confirm that the recently described phenomenon of “chromothripsis” (massive chromosomal shattering and reorganization) is not unique to cancer cells but also occurs in the germline where it can resolve to a karyotypically balanced state with frequent inversions. We detected a high incidence of complex rearrangements (19.2%) and substantially less reliance on microhomology (31%) than previously observed in benign CNVs. We compared these results to experimentally-generated DNA breakage-repair by sequencing seven transgenic animals, and revealed extensive rearrangement of the transgene and host genome with similar complexity to human germline alterations. Inversion is the most common rearrangement, suggesting that a combined mechanism involving template switching and non-homologous repair mediates the formation of balanced complex rearrangements that are viable, stably replicated and transmitted unaltered to subsequent generations
Recommended from our members
Us and Them: Archaeology and Ethnicity in the Andes
This volume brings together a corpus of scholars whose work collectively represents a significant advancement in the study of prehistoric ethnicity in the Andean region. The assembled research represents an outstanding collection of theoretical and methodological approaches, and conveys recent discoveries in several subfields of prehistoric Andean anthropology, including spatial archaeology, mortuary archaeology, textile studies, ceramic analysis, and biological anthropology. Many of the authors in this volume apply novel research techniques, while others wield more established approaches in original ways. Although the research presented in this volume has occurred in the Andean region, many of the novel methods applied will be applicable to other geographic regions, and it is hoped that this research will stimulate others to pursue future innovative work in the prehistoric study of ethnic identification
Recommended from our members
Us and Them: Archaeology and Ethnicity in the Andes
This volume brings together a corpus of scholars whose work collectively represents a significant advancement in the study of prehistoric ethnicity in the Andean region. The assembled research represents an outstanding collection of theoretical and methodological approaches, and conveys recent discoveries in several subfields of prehistoric Andean anthropology, including spatial archaeology, mortuary archaeology, textile studies, ceramic analysis, and biological anthropology. Many of the authors in this volume apply novel research techniques, while others wield more established approaches in original ways. Although the research presented in this volume has occurred in the Andean region, many of the novel methods applied will be applicable to other geographic regions, and it is hoped that this research will stimulate others to pursue future innovative work in the prehistoric study of ethnic identification