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LOC107457601 meiotic recombination hotspot Q [ Homo sapiens (human) ]

Gene ID: 107457601, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107457601
Gene description
meiotic recombination hotspot Q
Gene type
biological region
Feature type(s)
misc_feature: nucleotide_motif
misc_recomb: meiotic
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 located within an intron of the olfactomedin 3 (OLFM3) gene, and has been identified as a meiotic recombination hotspot by sperm typing assays, molecular assays in male germ cells to identify meiotic double strand breaks, and linkage disequilibrium studies. This meiotic recombination hotspot tends to have a higher recombination frequency in individuals with a PRDM9 A allele, with little to no meiotic recombination activity observed in some individuals with other PRDM9 alleles. Meiotic hotspot activity can vary widely amongst individuals and can be influenced by both the nucleotide sequence at the meiotic recombination hotspot and the specific alleles present at the PR domain 9 (PRDM9) locus. [provided by RefSeq, Apr 2016]
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Genomic context

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Location:
1p22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (101922189..101925357)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (101771380..101774548)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (102387745..102390913)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene olfactomedin 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:102334091-102334592 Neighboring gene RNA, U6 small nuclear 352, pseudogene Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 5 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:102372718-102373384 Neighboring gene uncharacterized LOC107985095 Neighboring gene uncharacterized LOC124904645

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Berg IL, et al. Nat Genet, 2010 Oct. PMID 20818382, Free PMC Article
  2. Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association. Webb AJ, et al. Proc Natl Acad Sci U S A, 2008 Jul 29. PMID 18650392, Free PMC Article
  3. Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations. Berg IL, et al. Proc Natl Acad Sci U S A, 2011 Jul 26. PMID 21750151, Free PMC Article
  4. A common sequence motif associated with recombination hot spots and genome instability in humans. Myers S, et al. Nat Genet, 2008 Sep. PMID 19165926
  5. Fine-scale recombination rate differences between sexes, populations and individuals. Kong A, et al. Nature, 2010 Oct 28. PMID 20981099

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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

See Variation Viewer (GRCh37.p13)

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.

Genomic

  1. NG_046840.1 

    Range
    101..3269
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    101922189..101925357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    101771380..101774548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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