LOC105943586 distal CMT1A-REP [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC105943586
Gene description: distal CMT1A-REP
Gene type: biological region
Feature type(s): misc_feature: nucleotide_motif
misc_recomb: meiotic, non_allelic_homologous
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the proximal CMT1A-REP region, which is located about 1.4 Mb centromere-proximal to this region. NAHR between these regions can result in either duplications or deletions of the intervening sequence, including the peripheral myelin protein 22 (PMP22) gene. The region represented here is composed of multiple sub-regions, named Zones 1-4, that have been identified as NAHR exchange sites in different individuals. The majority of NAHR events have been mapped to a small segment within Zone 1, named the Zone 1 hotspot, which overlaps a region known to be a meiotic recombination hotspot in some males bearing either the A or B alleles of PRDM9. Duplication events are the cause of the autosomal dominant Charcot-Marie-Tooth disease typeIA (CMT1A), while the reciprocal deletion is associated with the clinically distinct, hereditary neuropathy with liability to pressure palsies (HNPP), also an autosomal dominant disease. Gene dosage differences of PMP22, a gene that resides between the CMT1A-REP loci, is thought to be the major cause of both disease phenotypes. The majority of de novo recombination events have been shown to occur during male gametogenesis, and are thought to be the result of unequal crossover events between homologous chromosomes. A few HNPP deletions resulting from intrachromosomal exchange events during female gametogenesis have also been documented. [provided by RefSeq, Sep 2016]
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Genomic context

Location:: chromosome: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (14170534..14194724)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (14078335..14102519)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (14073851..14098041)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

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General gene information

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Other Names

distal Charcot-Marie-Tooth type 1A repeat

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.