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LOC106144556 AZFb P5.1 recombination region [ Homo sapiens (human) ]

Gene ID: 106144556, updated on 10-Dec-2024

Summary

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Gene symbol
LOC106144556
Gene description
AZFb P5.1 recombination region
Gene type
biological region
Feature type(s)
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 another region, the AZFb P1.2 recombination region, located about 6.2 Mb centromere-distal of this region. NAHR between these regions can result in a deletion of the large intervening sequence, and is known as a P5/proximal-P1 deletion, causing azoospermia. This region is contained within a very large palindromic region known as P5 (palindrome 5). AZFa, AZFb, and AZFc have been defined as regions on chromosome Yq11, each containing multiple genes. Deletions in any of these regions can cause spermatogenic defects. NAHR between this region and the AZFb P1.2 recombination region removes the AZFb region. This region contains two NAHR exchange regions named AMC0110 and WHT4396, and also contains a meiotic recombination hotspot. Nearby NAHR regions and non-homologous recombination exchange regions have also been identified. [provided by RefSeq, Oct 2016]
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Genomic context

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See LOC106144556 in Genome Data Viewer
Location:
Yq11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (17923022..17925790)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (18829607..18832346)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (20034902..20037670)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene USP9Y pseudogene 7 Neighboring gene USP9Y pseudogene 6 Neighboring gene chromodomain Y-linked 7 pseudogene Neighboring gene AZFb P5.2 recombination region Neighboring gene USP9Y pseudogene 34

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. AZF gene microdeletions: case series and literature review. Gallego A, et al. Actas Urol Esp, 2014 Dec. PMID 24954841
  2. The frequency of Yq microdeletion in azoospermic and oligospermic Iranian infertile men. Zaimy MA, et al. Iran J Reprod Med, 2013 Jun. PMID 24639778, Free PMC Article
  3. The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. Ferlin A, et al. J Med Genet, 2003 Jan. PMID 12525536, Free PMC Article
  4. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Brandell RA, et al. Hum Reprod, 1998 Oct. PMID 9804236
  5. Microdeletions in the Y chromosome of infertile men. Pryor JL, et al. N Engl J Med, 1997 Feb 20. PMID 9023089

See all (15) 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)

General gene information

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Other Names

  • azoospermia factor b palindrome 5.1 recombination region

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_042792.1 

    Range
    101..2869
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

    Range
    17923022..17925790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060948.1 Alternate T2T-CHM13v2.0

    Range
    18829607..18832346
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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