SPO11 (SPO11 initiator of meiotic double stranded breaks)
- symbol:
- SPO11
- locus group:
- protein-coding gene
- location:
- 20q13.31
- gene_family:
- alias symbol:
- CT35|SPATA43|TOPVIA|TOPOVIA
- alias name:
- cancer/testis antigen 35|spermatog…
- entrez id:
- 23626
- ensembl gene id:
- ENSG00000054796
- ucsc gene id:
- uc002xye.4
- refseq accession:
- NM_012444
- hgnc_id:
- HGNC:11250
- approved reserved:
- 1999-12-02
SPO11是一种关键的基因，编码一种拓扑异构酶样蛋白（topoisomerase-like protein），主要参与减数分裂（meiosis）过程中DNA双链断裂（double-strand breaks, DSBs）的起始，这是同源染色体重组（homologous recombination）的必要步骤。其表达产物SPO11蛋白通过切割DNA双链，引发重组修复机制，确保遗传多样性并维持基因组稳定性。SPO11的作用位点集中在减数分裂前期I的染色体上，特别是在重组热点区域（recombination hotspots）。若SPO11发生功能丧失突变（loss-of-function mutation），会导致减数分裂异常，表现为染色体无法正确配对和分离，最终引发不育（sterility）。此外，SPO11异常可能与某些癌症相关，因为其功能紊乱可能影响基因组稳定性。SPO11属于SPO11基因家族，该家族成员在真核生物中保守存在，均具有诱导DNA断裂的能力，并参与减数分裂或DNA修复过程。当SPO11过表达时，可能导致过多的DNA损伤，增加基因组不稳定性风险；而降低表达则可能阻碍减数分裂进程，影响生殖细胞发育。SPO11的功能与其他减数分裂相关基因（如DMC1、RAD51）紧密关联，其表达异常可能干扰这些基因的协同作用，进一步破坏减数分裂的准确性。
Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of SPO11 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for SPO11:
| Interacting Gene | Interaction | Source/Score |
| Disease | Score | NofPmids | NofSnps | Source |
| Male infertility | 0.002909916 | 3 | 1 | BeFree_GAD |
| Azoospermia | 0.002638474 | 2 | 0 | BeFree_GAD |
| Ovarian Failure, Premature | 0.002638474 | 1 | 0 | BeFree_GAD |
| Oligospermia | 0.002638474 | 2 | 0 | BeFree_GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
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