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LOC108868752 AZFb P4.1 recombination region [ Homo sapiens (human) ]

Gene ID: 108868752, updated on 17-Sep-2024

Summary

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Gene symbol
LOC108868752
Gene description
AZFb P4.1 recombination region
Gene type
biological region
Feature type(s)
misc_recomb: recombination_hotspot
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 recombination with another region, the AZFc P1.1b recombination region, located about 7 Mb centromere-distal of this region. Recombination between these regions can result in a deletion of the large intervening sequence, and is known as a P4/distal-P1 deletion, causing azoospermia. Recombination is not thought to occur as a result of homologous recombination, since these regions do not share high sequence identity. This region is contained within a large palindromic region known as P4 (palindrome 4). 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. Recombination between this region and the AZFc P1.1b recombination region removes AZFb and part of the AZFc region. [provided by RefSeq, Oct 2016]
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Genomic context

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See LOC108868752 in Genome Data Viewer
Location:
Yq11.222
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (18591399..18592152)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (19497853..19498606)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (20753285..20754038)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene heat shock transcription factor Y-linked 1 Neighboring gene glycoprotein M6B pseudogene 1 Neighboring gene testis expressed transcript, Y-linked 9B Neighboring gene OFD1 pseudogene 5 Y-linked Neighboring gene trafficking protein particle complex 2 pseudogene 7 Neighboring gene RAB9A, member RAS oncogene family pseudogene 4 Neighboring gene OFD1 pseudogene 6 Y-linked Neighboring gene testis expressed transcript, Y-linked 9A Neighboring gene heat shock transcription factor Y-linked 2

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. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Krausz C, et al. Andrology, 2014 Jan. PMID 24357628, Free PMC Article
  2. The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994-2010). Kleiman SE, et al. Fertil Steril, 2011 May. PMID 21367410
  3. Structural variation of the human genome: mechanisms, assays, and role in male infertility. Carvalho CM, et al. Syst Biol Reprod Med, 2011 Feb. PMID 21210740, Free PMC Article
  4. Screening for Y-chromosome microdeletions in infertile Indian males: utility of simplified multiplex PCR. Mitra A, et al. Indian J Med Res, 2008 Feb. PMID 18403789
  5. Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. Yang Y, et al. Int J Androl, 2008 Dec. PMID 17877719

See all (7) 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 4.1 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_051798.1 

    Range
    101..854
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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
    18591399..18592152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060948.1 Alternate T2T-CHM13v2.0

    Range
    19497853..19498606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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