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Gene : LOC105980006 Homo sapiens

Name  ? PLCR-B recombination region Cytological Location  5q35
description  This region is known to undergo non-allelic homologous recombination (NAHR) with a similar region, the DLCR-2B (distal low-copy repeat 2B) recombination region, which is located a little over 1.9 Mb downstream of this region. NAHR between these regions can result in deletions of the intervening sequence, including the NSD1 (nuclear receptor binding SET domain protein 1) gene. This region is contained within a larger 390 kb low-copy repeat region, PLCR (proximal low-copy repeat, also known as Sos-PREP, for Sotos proximal repeat), that shares over 98% sequence identity to the downstream DLCR (also known as Sos-DREP) region. While the DLCR and PLCR large repeat regions are in reverse orientation, the small sub-regions, PLCR-B and DLCR-2B, of the repeats in which recombination is observed are found in direct orientation. The 1.9 Mb deletion that can occur as a result of NAHR between the PLCR-B and DLCR-2B recombination regions has been observed in some individuals with Sotos syndrome (Sos, also known as cerebral gigantism). Sotos syndrome is an autosomal dominant syndrome characterized by excessive growth, distinct craniofacial features, including macrocephaly a prominent forehead, pointed chin, large hands and feet, as well as variable degrees of intellectual disability. Gene dosage differences of NSD1 (nuclear receptor binding SET domain protein 1), a gene that resides between the PLCR-B and DLCR-2B recombination hotspots, is thought to be the major cause of Sos in those individuals bearing the 1.9 Mb deletion. Point mutations within NSD1 have also been identified as a cause of Sos. Those Sos individuals with the 1.9 Mb microdeletion display a more severe phenotype relative to those with point mutations in NSD1, including anomalies of the central nervous system, cardiovascular, and urinary systems. The 1.9 Mb microdeletion has been observed in about 50% of individuals with Sos amongst Japanese populations, but in only about 9% of Sos individuals of European ancestry. Studies have shown that the microdeletion between repeat units occurs more frequently on the paternally-derived chromosome, and can be the result of either inter- or intra-chromosomal rearrangements. [provided by RefSeq, Jul 2017]
  • identifiers:
  • 105980006,
  • LOC105980006

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 5q35

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3 Data Sets

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