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Gene : LOC106020709 Homo sapiens

Name  ? distal SMS-REP block C recombination region Cytological Location  17p11.2
description  This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat (LCR) region, the proximal SMS-REP recombination block C region, which is located about 3.7 Mb centromere-proximal to this region. A third LCR, middle SMS-REP is located in reverse orientation, between the distal and proximal SMS-REPs. The majority of NAHR events occur between the proximal and distal SMS-REPs, and result in the 'common' 3.7 Mb deletion or duplication. Other NAHR events have also been described, resulting in genomic deletions and duplications ranging in size from 1.3 to 15.2 Mb. This recombination region is contained within a large LCR of about 176 kb in which there are 4 homology blocks, named A-D. This recombination region is contained within block C and is composed of multiple sub-regions that have been identified as NAHR exchange sites in different individuals, and also contains two overlapping meiotic recombination hotspots. The NAHR exchange sub-regions are named 1-4, and the majority of NAHR events have been observed in sub-region 2. These recombination events are the result of unequal crossing over (both inter- and intra-chromosomal) during meiotic recombination events, with no apparent bias for parental origin. NAHR between the proximal and distal SMS-REP recombination regions can result in either duplications or deletions of the intervening sequence, including the retinoic acid induced 1 (RAI1) gene. Deletion events are the cause of the autosomal dominant Smith-Magenis syndrome (SMS), while the reciprocal duplication is associated with Potocki-Lupski syndrome (PTLS), also an autosomal dominant disease. NAHR events involving another recombination region, the distal SMS-REP block A recombination region, about 30 kb centromere-distal to this region can also cause a similar sized duplication or deletion. A recurring, but less frequent duplication/deletion that is larger in size, but also causes PTLS/SMS has also been described (see the LCR17pA and LCR17pD recombination regions). [provided by RefSeq, Sep 2016]
  • identifiers:
  • 106020709,
  • LOC106020709

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 17p11.2


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