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FLASH GENE
Symbol SPO11 contributors: mct - updated : 03-02-2015
HGNC name SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)
HGNC id 11250
Location 20q13.31      Physical location : 55.904.830 - 55.919.048
Synonym symbol(s) CT35, TOPVIA, SPATA43
DNA
TYPE functioning gene
STRUCTURE 14.22 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 1826 44 396 - 1999 10534401
isoform a
12 splicing 1712 - 358 - 1999 10534401
variant 2 lacks an alternate in-frame exon compared to variant 1, resulting in isoform b lacking an internal segment, compared to isoform a
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus    
Reproductivemale systemtestis  highly
 male systemprostate   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
cell lineage
cell lines carcinoma cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a putative active site tyrosine (region J)
  • a Toprim (topoisomerase and primase) domain
  • HOMOLOGY
    interspecies homolog to yeast meiosis specific gene
    ortholog to murine Spo11
    Homologene
    FAMILY TOP6A family
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,telomere
    basic FUNCTION
  • DNA topoisomerase activity, required for double strand break formation
  • required for initiation of recombination in S.cerevisiae
  • meiotic recombination is initiated by programmed DNA double-strand break (DSB) formation mediated by SPO11
  • must be removed for the DNA double-strand breaks to be repaired
  • generates programmed DNA double-strand breaks (DSBs) that initiate meiotic recombination (pMID: 19799184)
  • SPO11-accessory proteins link double-strand break sites to the chromosome axis in early meiotic recombination
  • initial steps in repair of SPO11-induced DNA double-strand breaks (DSBs) are required to obtain stable homologous chromosome pairing and synapsis
  • SPO11-independent DNA repair foci contribute to the meiotic silencing of unsynapsed chromatin (MSUC) response in oocytes
  • DNA double-strand breaks (DSBs) are induced by SPO11 during meiosis to initiate recombination-mediated pairing and synapsis of homologous chromosomes
  • repair of SPO11-dependent DNA double-strand breaks (DSBs) via homologous recombination (HR) is essential for stable homologous chromosome pairing and synapsis during meiotic prophase
  • CELLULAR PROCESS nucleotide, recombination
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule nucleotide,
    ATP binding
    protein
  • POLB is critical for the repair of SPO11-induced double-strand breaks (DSBs)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to azoospermia and oligozoospermia male infertility
    Variant & Polymorphism SNP
  • polymorphism in SPO11 gene may be linked to the susceptibility of azoospermia and oligozoospermia male infertility
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    disruption of mouse Spo11 led to severe gonadal abnormalities from defective meiosis