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LOC107758904 meiotic recombination hotspot 5A [ Homo sapiens (human) ]

Gene ID: 107758904, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107758904
Gene description
meiotic recombination hotspot 5A
Gene type
biological region
Feature type(s)
misc_feature: nucleotide_motif, sequence_alteration
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 on the p arm of chromosome 5, 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 recombination hotspot is specific to individuals with C-type PRDM9 alleles, more prevalent in African populations. Little to no meiotic recombination hotspot activity is observed in some individuals with other PRDM9 alleles. While this region does not contain an exact match to the PRDM9 C-type consensus motif, CCNCNNTNNNCNTNNC, there are two sequences near the center of the hotspot region that share similarity to the consensus motif, found in an inverted orientation. Biased gene conversion of the single nucleotide polymorphism, rs116141470, found within the sequence containing a close match to one of the PRDM9 C-type consensus motifs has been observed. 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, Oct 2016]
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Genomic context

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See LOC107758904 in Genome Data Viewer
Location:
5p15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (1934510..1936573)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (1850498..1852567)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1934624..1936687)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1883903-1884755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1885305-1885838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1889419-1890219 Neighboring gene IRX4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1919083-1919896 Neighboring gene iroquois homeobox 4 Neighboring gene keratin-associated protein 5-5-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1930660-1931240 Neighboring gene uncharacterized LOC105374618 Neighboring gene NANOG hESC enhancer GRCh37_chr5:1944459-1944980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1945776-1946394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1948847-1949348 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:1950332-1951531 Neighboring gene Sharpr-MPRA regulatory region 501 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1961828-1962566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1964219-1964719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1973793-1974292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:2067819-2068402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:2068403-2068984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:2075638-2076138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:2077789-2078290 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83860 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83872 Neighboring gene VISTA enhancer hs633 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:2136525-2137724 Neighboring gene NANOG hESC enhancer GRCh37_chr5:2144015-2144548 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:2145193-2145694 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:2145695-2146194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:2146889-2147388 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:2157739-2158239 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:2175812-2176312 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:2191782-2192282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:2192283-2192783 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83970 Neighboring gene VISTA enhancer hs1327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:2212387-2213238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:2260271-2261061 Neighboring gene uncharacterized LOC124901166 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:2269269-2269796 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:2269797-2270323 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:2299803-2300482 Neighboring gene uncharacterized LOC100506858

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. 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
  2. Fine-scale recombination rate differences between sexes, populations and individuals. Kong A, et al. Nature, 2010 Oct 28. PMID 20981099
  3. DNA recombination. Recombination initiation maps of individual human genomes. Pratto F, et al. Science, 2014 Nov 14. PMID 25395542, Free PMC Article

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 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_046986.1 

    Range
    101..2164
    Download
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    1934510..1936573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    1850498..1852567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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