Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.
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Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. / Raedt, Thomas De; Stephens, Matthew; Heyns, Ine; Brems, Hilde; Thijs, Daisy; Messiaen, Ludwine; Stephens, Karen; Lazaro, Conxi; Wimmer, Katharina; Kehrer-Sawatzki, Hildegard; Vidaud, Dominique; Kluwe, Lan; Marynen, Peter; Legius, Eric.
in: NAT GENET, Jahrgang 38, Nr. 12, 12, 2006, S. 1419-1423.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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T1 - Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.
AU - Raedt, Thomas De
AU - Stephens, Matthew
AU - Heyns, Ine
AU - Brems, Hilde
AU - Thijs, Daisy
AU - Messiaen, Ludwine
AU - Stephens, Karen
AU - Lazaro, Conxi
AU - Wimmer, Katharina
AU - Kehrer-Sawatzki, Hildegard
AU - Vidaud, Dominique
AU - Kluwe, Lan
AU - Marynen, Peter
AU - Legius, Eric
PY - 2006
Y1 - 2006
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 38
SP - 1419
EP - 1423
JO - NAT GENET
JF - NAT GENET
SN - 1061-4036
IS - 12
M1 - 12
ER -