Nature Genetics
- 38, 1419 - 1423 (2006)
Published online: 19 November 2006; | doi:10.1038/ng1920
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletionThomas De Raedt1, Matthew Stephens2, Ine Heyns1, Hilde Brems1, Daisy Thijs1, Ludwine Messiaen3, Karen Stephens4, Conxi Lazaro5, Katharina Wimmer6, Hildegard Kehrer-Sawatzki7, Dominique Vidaud8, Lan Kluwe9, Peter Marynen1 & Eric Legius11
Department of Human Genetics, Catholic University Leuven, Leuven, Belgium. 2
Department of Statistics, University of Washington, Seattle, Washington, USA. 3
Laboratory Medical Genetics, Department of Genetics, University of Alabama, Birmingham, Alabama, USA. 4
Department of Medicine, University of Washington, Seattle, Washington, USA. 5
Institut Catala d'Oncologia–Instituto de Investigación Biomédica de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain. 6
Department of Human Genetics, Medical University of Vienna, Vienna, Austria. 7
Department of Human Genetics, University of Ulm, Ulm, Germany. 8
Laboratoire de Génétique Moléculaire, Institut National de la Santé et de la Recherche Médicale U745, Université Paris 5, Paris, France. 9
Laboratory for Tumor Biology and Development and Malformation, University Hospital Eppendorf, Hamburg, Germany.
Correspondence should be addressed to Eric Legius Eric.Legius@uz.kuleuven.ac.be Several large-scale studies of human genetic variation have provided insights into processes such as recombination that have shaped human diversity. However, regions such as low-copy repeats (LCRs) have proven difficult to characterize, hindering efforts to understand the processes operating in these regions. We present a detailed study of genetic variation and underlying recombination processes in two copies of an LCR (NF1REPa and NF1REPc) on chromosome 17 involved in the generation of NF1 microdeletions and in a third copy (REP19) on chromosome 19 from which the others originated over 6.7 million years ago. We find evidence for shared hotspots of recombination among the LCRs. REP19 seems to contain hotspots in the same place as the nonallelic recombination hotspots in NF1REPa and NF1REPc. This apparent conservation of patterns of recombination hotspots in moderately diverged paralogous regions contrasts with recent evidence that these patterns are not conserved in less-diverged orthologous regions of chimpanzees.
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