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Gene : 106029313 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). These recombination regions are part of much larger low-copy repeat regions that are composed of three blocks; A, B, and C. There are three WBS low-copy repeat regions on chromosome 7, the WBS centromeric, medial, and telomeric low copy repeats. The centromeric and medial low-copy repeats are both in reverse orientation relative to this region, and are located about 1.75 and 1.55 Mb upstream, respectively. The region represented here contains sequences recognized as an NAHR exchange site, identified using a site-specific nucleotide (SSN) assays as well as an overlapping meiotic recombination hotspot. The NAHR exchange site is named SSN11'-SSN13' (PMID:12796854). 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 between this region and the WBS medial block B recombination region, leading to inversions. Inversion events between this region and the medial 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:
  • 106029313

Genome feature

Region: gene ?
Location: No location information in HumanMine


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