scholarly journals Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination

2007 ◽  
Vol 81 (6) ◽  
pp. 1201-1220 ◽  
Author(s):  
Katharina Steinmann ◽  
David N. Cooper ◽  
Lan Kluwe ◽  
Nadia A. Chuzhanova ◽  
Cornelia Senger ◽  
...  
2010 ◽  
Vol 31 (10) ◽  
pp. 1163-1173 ◽  
Author(s):  
Angelika C. Roehl ◽  
Julia Vogt ◽  
Tanja Mussotter ◽  
Antje N. Zickler ◽  
Helene Spöti ◽  
...  

2017 ◽  
Vol 38 (12) ◽  
pp. 1711-1722 ◽  
Author(s):  
Morten Hillmer ◽  
Anna Summerer ◽  
Victor-Felix Mautner ◽  
Josef Högel ◽  
David N. Cooper ◽  
...  

Genetics ◽  
1998 ◽  
Vol 149 (3) ◽  
pp. 1191-1204 ◽  
Author(s):  
Jeffrey B Virgin ◽  
Jeffrey P Bailey

Abstract Homologous recombination is increased during meiosis between DNA sequences at the same chromosomal position (allelic recombination) and at different chromosomal positions (ectopic recombination). Recombination hotspots are important elements in controlling meiotic allelic recombination. We have used artificially dispersed copies of the ade6 gene in Schizosaccharomyces pombe to study hotspot activity in meiotic ectopic recombination. Ectopic recombination was reduced 10–1000-fold relative to allelic recombination, and was similar to the low frequency of ectopic recombination between naturally repeated sequences in S. pombe. The M26 hotspot was active in ectopic recombination in some, but not all, integration sites, with the same pattern of activity and inactivity in ectopic and allelic recombination. Crossing over in ectopic recombination, resulting in chromosomal rearrangements, was associated with 35–60% of recombination events and was stimulated 12-fold by M26. These results suggest overlap in the mechanisms of ectopic and allelic recombination and indicate that hotspots can stimulate chromosomal rearrangements.


Author(s):  
Zhibin Zhang ◽  
Xiaowan Gou ◽  
Hongwei Xun ◽  
Yao Bian ◽  
Xintong Ma ◽  
...  

Recombination between homeologous chromosomes, also known as homeologous exchange (HE), plays a significant role in shaping genome structure and gene expression in interspecific hybrids and allopolyploids of several plant species. However, the molecular mechanisms that govern HEs are not well understood. Here, we studied HE events in the progeny of a nascent allotetraploid (genome AADD) derived from two diploid progenitors of hexaploid bread wheat using cytological and whole-genome sequence analyses. In total, 37 HEs were identified and HE junctions were mapped precisely. HEs exhibit typical patterns of homologous recombination hotspots, being biased toward low-copy, subtelomeric regions of chromosome arms and showing association with known recombination hotspot motifs. But, strikingly, while homologous recombination preferentially takes place upstream and downstream of coding regions, HEs are highly enriched within gene bodies, giving rise to novel recombinant transcripts, which in turn are predicted to generate new protein fusion variants. To test whether this is a widespread phenomenon, a dataset of high-resolution HE junctions was analyzed for allopolyploid Brassica, rice, Arabidopsis suecica, banana, and peanut. Intragenic recombination and formation of chimeric genes was detected in HEs of all species and was prominent in most of them. HE thus provides a mechanism for evolutionary novelty in transcript and protein sequences in nascent allopolyploids.


2019 ◽  
Vol 9 (11) ◽  
pp. 3631-3644
Author(s):  
Alberto Bellido ◽  
Toni Ciudad ◽  
Belén Hermosa ◽  
Encarnación Andaluz ◽  
Anja Forche ◽  
...  

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Adrian Mc Cormack ◽  
Juliet Taylor ◽  
Leah Te Weehi ◽  
Donald R. Love ◽  
Alice M. George

Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses theCRHR1, MAPT,andKANSL1genes, as well as a microdeletion in chromosome 7q31.33 that is localised within theGRM8gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.


2012 ◽  
Vol 21 (16) ◽  
pp. 3695-3702 ◽  
Author(s):  
Elias ElInati ◽  
Paul Kuentz ◽  
Claire Redin ◽  
Sara Jaber ◽  
Frauke Vanden Meerschaut ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document