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Gene : 106029311 Homo sapiens

Description  This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the Williams-Beuren syndrome medial block B recombination region (WBS medial block B recombination region), which is located about 1.55 Mb downstream of this region. These recombination regions are part of much larger low-copy repeat regions that are composed of three blocks; A, B, and C. Another similar low-copy repeat region, the Williams-Beuren syndrome telomeric low-copy repeat region is found in reverse orientation, further downstream. The region represented here is composed of multiple sub-regions that have been identified as NAHR exchange sites in different individuals. The sub-regions were identified using site-specific nucleotide (SSN) assays, and are named SSN1-SSN3, SSN3-SSN6, SSN6-SSN7, SSN7-SSN9, SSN9-SSN11 (PMID:12796854). This region also contains two meiotic recombination hotspots, one overlapping SSN1-SSN3 and the other overlapping SSN3-SSN6. NAHR between the centromeric and medial recombination regions can result in either deletions or duplications of the intervening sequences, leading to either Williams-Beuren syndrome (WBS) or 7q11.23 duplication syndrome, respectively. While the 1.55 Mb deletion resulting from NAHR between the centromeric and medial B blocks is most commonly observed in individuals with WBS, inversions and other deletions have also been reported. WBS is characterized by distinct facial features, cognitive deficits together with high verbal ability, poor visuospatial abilities, and heart defects. In contrast, individuals with duplications of the same region exhibit delayed speech and strong visuospatial abilities. NAHR events have been observed from both maternal and paternal origins, and from both inter- and intrachromosomal recombination events. [provided by RefSeq, Sep 2015]
  • identifiers:
  • 106029311

Genome feature

Region: gene ?
Location: No location information in HumanMine

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