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Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.

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Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. / Zickler, Antje M; Hampp, Stephanie; Messiaen, Ludwine; Bengesser, Kathrin; Mussotter, Tanja; Roehl, Angelika C; Wimmer, Katharina; Mautner, Viktor Felix; Kluwe, Lan; Upadhyaya, Meena; Pasmant, Eric; Chuzhanova, Nadia; Kestler, Hans A; Högel, Josef; Legius, Eric; Claes, Kathleen; Cooper, David N; Kehrer-Sawatzki, Hildegard.

in: HUM MUTAT, Jahrgang 33, Nr. 2, 2, 2012, S. 372-383.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Zickler, AM, Hampp, S, Messiaen, L, Bengesser, K, Mussotter, T, Roehl, AC, Wimmer, K, Mautner, VF, Kluwe, L, Upadhyaya, M, Pasmant, E, Chuzhanova, N, Kestler, HA, Högel, J, Legius, E, Claes, K, Cooper, DN & Kehrer-Sawatzki, H 2012, 'Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.', HUM MUTAT, Jg. 33, Nr. 2, 2, S. 372-383. <http://www.ncbi.nlm.nih.gov/pubmed/22045503?dopt=Citation>

APA

Zickler, A. M., Hampp, S., Messiaen, L., Bengesser, K., Mussotter, T., Roehl, A. C., Wimmer, K., Mautner, V. F., Kluwe, L., Upadhyaya, M., Pasmant, E., Chuzhanova, N., Kestler, H. A., Högel, J., Legius, E., Claes, K., Cooper, D. N., & Kehrer-Sawatzki, H. (2012). Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. HUM MUTAT, 33(2), 372-383. [2]. http://www.ncbi.nlm.nih.gov/pubmed/22045503?dopt=Citation

Vancouver

Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC et al. Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. HUM MUTAT. 2012;33(2):372-383. 2.

Bibtex

@article{652a515f75e44bd28834652f7a795c11,
title = "Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.",
abstract = "Nonallelic homologous recombination (NAHR) is the major mechanism underlying recurrent genomic rearrangements, including the large deletions at 17q11.2 that cause neurofibromatosis type 1 (NF1). Here, we identify a novel NAHR hotspot, responsible for type-3 NF1 deletions that span 1.0 Mb. Breakpoint clustering within this 1-kb hotspot, termed PRS3, was noted in 10 of 11 known type-3 NF1 deletions. PRS3 is located within the LRRC37B pseudogene of the NF1-REPb and NF1-REPc low-copy repeats. In contrast to other previously characterized NAHR hotspots, PRS3 has not developed on a preexisting allelic homologous recombination hotspot. Furthermore, the variation pattern of PRS3 and its flanking regions is unusual since only NF1-REPc (and not NF1-REPb) is characterized by a high single nucleotide polymorphism (SNP) frequency, suggestive of unidirectional sequence transfer via nonallelic homologous gene conversion (NAHGC). By contrast, the previously described intense NAHR hotspots within the CMT1A-REPs, and the PRS1 and PRS2 hotspots underlying type-1 NF1 deletions, experience frequent bidirectional sequence transfer. PRS3 within NF1-REPc was also found to be involved in NAHGC with the LRRC37B gene, the progenitor locus of the LRRC37B-P duplicons, as indicated by the presence of shared SNPs between these loci. PRS3 therefore represents a weak (and probably evolutionarily rather young) NAHR hotspot with unique properties.",
keywords = "Humans, Base Sequence, Polymorphism, Single Nucleotide, *Gene Deletion, Gene Order, Carrier Proteins/genetics, Chromosome Breakpoints, Gene Conversion, *Genes, Neurofibromatosis 1, *Homologous Recombination, Mosaicism, Neurofibromatosis 1/*genetics, Nucleotide Motifs, Humans, Base Sequence, Polymorphism, Single Nucleotide, *Gene Deletion, Gene Order, Carrier Proteins/genetics, Chromosome Breakpoints, Gene Conversion, *Genes, Neurofibromatosis 1, *Homologous Recombination, Mosaicism, Neurofibromatosis 1/*genetics, Nucleotide Motifs",
author = "Zickler, {Antje M} and Stephanie Hampp and Ludwine Messiaen and Kathrin Bengesser and Tanja Mussotter and Roehl, {Angelika C} and Katharina Wimmer and Mautner, {Viktor Felix} and Lan Kluwe and Meena Upadhyaya and Eric Pasmant and Nadia Chuzhanova and Kestler, {Hans A} and Josef H{\"o}gel and Eric Legius and Kathleen Claes and Cooper, {David N} and Hildegard Kehrer-Sawatzki",
year = "2012",
language = "English",
volume = "33",
pages = "372--383",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "2",

}

RIS

TY - JOUR

T1 - Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.

AU - Zickler, Antje M

AU - Hampp, Stephanie

AU - Messiaen, Ludwine

AU - Bengesser, Kathrin

AU - Mussotter, Tanja

AU - Roehl, Angelika C

AU - Wimmer, Katharina

AU - Mautner, Viktor Felix

AU - Kluwe, Lan

AU - Upadhyaya, Meena

AU - Pasmant, Eric

AU - Chuzhanova, Nadia

AU - Kestler, Hans A

AU - Högel, Josef

AU - Legius, Eric

AU - Claes, Kathleen

AU - Cooper, David N

AU - Kehrer-Sawatzki, Hildegard

PY - 2012

Y1 - 2012

N2 - Nonallelic homologous recombination (NAHR) is the major mechanism underlying recurrent genomic rearrangements, including the large deletions at 17q11.2 that cause neurofibromatosis type 1 (NF1). Here, we identify a novel NAHR hotspot, responsible for type-3 NF1 deletions that span 1.0 Mb. Breakpoint clustering within this 1-kb hotspot, termed PRS3, was noted in 10 of 11 known type-3 NF1 deletions. PRS3 is located within the LRRC37B pseudogene of the NF1-REPb and NF1-REPc low-copy repeats. In contrast to other previously characterized NAHR hotspots, PRS3 has not developed on a preexisting allelic homologous recombination hotspot. Furthermore, the variation pattern of PRS3 and its flanking regions is unusual since only NF1-REPc (and not NF1-REPb) is characterized by a high single nucleotide polymorphism (SNP) frequency, suggestive of unidirectional sequence transfer via nonallelic homologous gene conversion (NAHGC). By contrast, the previously described intense NAHR hotspots within the CMT1A-REPs, and the PRS1 and PRS2 hotspots underlying type-1 NF1 deletions, experience frequent bidirectional sequence transfer. PRS3 within NF1-REPc was also found to be involved in NAHGC with the LRRC37B gene, the progenitor locus of the LRRC37B-P duplicons, as indicated by the presence of shared SNPs between these loci. PRS3 therefore represents a weak (and probably evolutionarily rather young) NAHR hotspot with unique properties.

AB - Nonallelic homologous recombination (NAHR) is the major mechanism underlying recurrent genomic rearrangements, including the large deletions at 17q11.2 that cause neurofibromatosis type 1 (NF1). Here, we identify a novel NAHR hotspot, responsible for type-3 NF1 deletions that span 1.0 Mb. Breakpoint clustering within this 1-kb hotspot, termed PRS3, was noted in 10 of 11 known type-3 NF1 deletions. PRS3 is located within the LRRC37B pseudogene of the NF1-REPb and NF1-REPc low-copy repeats. In contrast to other previously characterized NAHR hotspots, PRS3 has not developed on a preexisting allelic homologous recombination hotspot. Furthermore, the variation pattern of PRS3 and its flanking regions is unusual since only NF1-REPc (and not NF1-REPb) is characterized by a high single nucleotide polymorphism (SNP) frequency, suggestive of unidirectional sequence transfer via nonallelic homologous gene conversion (NAHGC). By contrast, the previously described intense NAHR hotspots within the CMT1A-REPs, and the PRS1 and PRS2 hotspots underlying type-1 NF1 deletions, experience frequent bidirectional sequence transfer. PRS3 within NF1-REPc was also found to be involved in NAHGC with the LRRC37B gene, the progenitor locus of the LRRC37B-P duplicons, as indicated by the presence of shared SNPs between these loci. PRS3 therefore represents a weak (and probably evolutionarily rather young) NAHR hotspot with unique properties.

KW - Humans

KW - Base Sequence

KW - Polymorphism, Single Nucleotide

KW - Gene Deletion

KW - Gene Order

KW - Carrier Proteins/genetics

KW - Chromosome Breakpoints

KW - Gene Conversion

KW - Genes, Neurofibromatosis 1

KW - Homologous Recombination

KW - Mosaicism

KW - Neurofibromatosis 1/genetics

KW - Nucleotide Motifs

KW - Humans

KW - Base Sequence

KW - Polymorphism, Single Nucleotide

KW - Gene Deletion

KW - Gene Order

KW - Carrier Proteins/genetics

KW - Chromosome Breakpoints

KW - Gene Conversion

KW - Genes, Neurofibromatosis 1

KW - Homologous Recombination

KW - Mosaicism

KW - Neurofibromatosis 1/genetics

KW - Nucleotide Motifs

M3 - SCORING: Journal article

VL - 33

SP - 372

EP - 383

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 2

M1 - 2

ER -