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• W2028520571 abstract "<b>Background:</b> Sotos syndrome (SoS) is a disorder characterised by excessive growth, typical craniofacial features, and developmental retardation. It is caused by haploinsuffiency of <i>NSD1</i> at 5q35. There is a 3.0 kb recombination hotspot in which the breakpoints of around 80% of SoS patients with a common deletion can be mapped. <b>Objective:</b> To identify deletion breakpoints located outside the SoS recombination hotspot. <b>Methods:</b> A screening system for the directly orientated segments of the SoS LCRs was developed for 10 SoS patients with a common deletion who were negative for the SoS hotspot. Deletion-junction fragments were analysed for DNA duplex stability and their relation to scaffold/matrix attachment regions (S/MARs). These features were compared with the SoS hotspot and recombination hotspots of other genomic disorders. <b>Results:</b> The breakpoint was mapped in four SoS patients, two with a deletion in the maternally derived chromosome. These breakpoint regions were located ∼2.5 kb, ∼9.6 kb, ∼27.2, and ∼27.7 kb telomeric to the SoS hotspot and were confined to 164 bp, 46 bp, 256 bp, and 124 bp, respectively. Two of the regions were mapped within <i>Alu</i> elements. All crossover events were found to have occurred within or adjacent to a highly destabilised DNA duplex with a high S/MAR probability. In contrast, the SoS hotspot and other genomic disorders’ recombination hotspots were mapped to stabilised DNA helix regions, flanked by destabilised regions with high probability of containing S/MAR elements. <b>Conclusions:</b> The data suggest that a specific chromatin structure may increase susceptibility for recurrent crossover events and thus predispose to recombination hotspots in genomic disorders." @default.
• W2028520571 created "2016-06-24" @default.
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• W2028520571 date "2005-06-15" @default.
• W2028520571 modified "2023-09-27" @default.
• W2028520571 title "Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions" @default.
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• W2028520571 doi "https://doi.org/10.1136/jmg.2005.034355" @default.
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