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Gene : 106029312 Homo sapiens

Description  This region is known to undergo non-allelic homologous recombination (NAHR) with similar low-copy repeat regions, the Williams-Beuren syndrome medial and telomeric block B recombination regions (WBS medial and telomeric block B recombination regions). These recombination regions are part of much larger low-copy repeat regions that are composed of three blocks; A, B, and C. The centromeric and medial low-copy repeats are in direct orientation, while the telomeric low-copy repeat is in reverse orientation. The centromeric low-copy repeat is located about 1.55 Mb upstream of this region, while the telomeric low-copy repeat is about 200 kb downstream of this region. 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' and SSN11-13 (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 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. NAHR has also been observed with the downstream WBS telomeric block B recombination region, in reverse orientation. Inversion events between this region and the telomeric region have been observed in about one-third of the progenitors who transmit the WBS chromosome. 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:
  • 106029312

Genome feature

Region: gene ?
Location: No location information in HumanMine


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