Spo11 SPO11 initiator of meiotic double stranded breaks [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spo11provided by MGI
Official Full Name: SPO11 initiator of meiotic double stranded breaksprovided by MGI
Primary source: MGI:MGI:1349669
See related: Ensembl:ENSMUSG00000005883 AllianceGenome:MGI:1349669
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Spo11a; Spo11b
Summary: Predicted to enable DNA binding activity. Acts upstream of or within several processes, including germ cell development; meiosis I; and ovarian follicle development. Located in chromosome, telomeric region. Is expressed in several structures, including genitourinary system; hemolymphoid system gland; liver; oral epithelium; and skin. Orthologous to human SPO11 (SPO11 initiator of meiotic double strand breaks). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in thymus adult (RPKM 21.9) and testis adult (RPKM 15.7) See more
Orthologs: human all
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Genomic context

Location:: 2 H3; 2 95.64 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (172819172..172835369)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (172977379..172993576)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Differential phosphorylation of two serine clusters in mouse HORMAD1 during meiotic prophase I progression.
Title: Differential phosphorylation of two serine clusters in mouse HORMAD1 during meiotic prophase I progression.
The proper interplay between the expression of Spo11 splice isoforms and the structure of the pseudoautosomal region promotes XY chromosomes recombination.
Title: The proper interplay between the expression of Spo11 splice isoforms and the structure of the pseudoautosomal region promotes XY chromosomes recombination.
NBS1 is required for SPO11-linked DNA double-strand break repair in male meiosis.
Title: NBS1 is required for SPO11-linked DNA double-strand break repair in male meiosis.
Combinatorial control of Spo11 alternative splicing by modulation of RNA polymerase II dynamics and splicing factor recruitment during meiosis.
Title: Combinatorial control of Spo11 alternative splicing by modulation of RNA polymerase II dynamics and splicing factor recruitment during meiosis.
A segregating human allele of SPO11 modeled in mice disrupts timing and amounts of meiotic recombination, causing oligospermia and a decreased ovarian reservedagger.
Title: A segregating human allele of SPO11 modeled in mice disrupts timing and amounts of meiotic recombination, causing oligospermia and a decreased ovarian reserve†.
ATM and PRDM9 regulate SPO11-bound recombination intermediates during meiosis.
Title: ATM and PRDM9 regulate SPO11-bound recombination intermediates during meiosis.
These data suggest that Tex19.1 and Ubr2 are required for mouse spermatocytes to accumulate sufficient Spo11-dependent recombination to ensure that the homology search is consistently successful, and reveal a hitherto unknown genetic pathway promoting meiotic recombination in mammals.
Title: Tex19.1 promotes Spo11-dependent meiotic recombination in mouse spermatocytes.
If SPO11 expression is reduced and DNA double-strand breaks at zygonema are decreased (approximately 40 % below wild-type level), meiotic chromosome pairing is normal.
Title: A surge of late-occurring meiotic double-strand breaks rescues synapsis abnormalities in spermatocytes of mice with hypomorphic expression of SPO11.
suppression of genetic recombination in the pseudoautosomal region and at subtelomeres in mice with a hypomorphic Spo11 allele
Title: Suppression of genetic recombination in the pseudoautosomal region and at subtelomeres in mice with a hypomorphic Spo11 allele.
our results indicate that in addition to asynapsis, persistent SPO11-induced DSBs are important for the initiation of MSCI and MSUC, and that SPO11-independent DNA repair foci contribute to the MSUC response in oocytes.
Title: SPO11-independent DNA repair foci and their role in meiotic silencing.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Targeted (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI449549 (e-PCR)
- UniSTS:159081

Spo11 (e-PCR), detects polymorphism
- UniSTS:230795

Spo11 (e-PCR), detects polymorphism
- UniSTS:230796

Spo11 (e-PCR), detects polymorphism
- UniSTS:230797

Spo11 (e-PCR), detects polymorphism
- UniSTS:525723

D2Mit528 (e-PCR), detects polymorphism
- UniSTS:129446

D2Mit528.2 (e-PCR), detects polymorphism
- UniSTS:129447

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA negative supercoiling activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within double-strand break repair involved in meiotic recombination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within homologous chromosome pairing at meiosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within leptotene	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male meiosis I	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in meiotic DNA double-strand break formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in meiotic DNA double-strand break formation	IEA Inferred from Electronic Annotation more info
involved_in meiotic DNA double-strand break processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within meiotic telomere clustering	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ovarian follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to chromosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reciprocal meiotic recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within reciprocal meiotic recombination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synaptonemal complex assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within synaptonemal complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
is_active_in nuclear chromosome	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: meiotic recombination protein SPO11

Names: SPO11 meiotic protein covalently bound to DSB homolog; sporulation protein, meiosis-specific, SPO11 homolog (S. cervisiae)

NP_001077428.1

EC 5.6.2.2

NP_001077429.1

EC 5.6.2.2

NP_001292363.1

EC 5.6.2.2

NP_001399399.1

EC 5.6.2.2

NP_036176.1

EC 5.6.2.2

XP_006499680.1

EC 5.6.2.2

XP_006499681.1

EC 5.6.2.2

XP_006499682.1

EC 5.6.2.2

XP_006499683.1

EC 5.6.2.2

XP_006499685.1

EC 5.6.2.2

XP_036018140.1

EC 5.6.2.2

XP_036018141.1

EC 5.6.2.2

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.

mRNA and Protein(s)

NM_001083959.2 → NP_001077428.1 meiotic recombination protein SPO11 isoform c

See identical proteins and their annotated locations for NP_001077428.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in an internal exon compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AL928599, AL929140

Consensus CDS

CCDS50811.1

UniProtKB/Swiss-Prot

Q9WTK8

Related

ENSMUSP00000104754.4, ENSMUST00000109126.5

Conserved Domains (3) summary

cd00223
Location:193 → 355

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

pfam03533
Location:2 → 43

SPO11_like; SPO11 homologue

pfam04406
Location:69 → 145

TP6A_N; Type IIB DNA topoisomerase
NM_001083960.2 → NP_001077429.1 meiotic recombination protein SPO11 isoform b

See identical proteins and their annotated locations for NP_001077429.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AL928599, AL929140

Consensus CDS

CCDS50812.1

UniProtKB/Swiss-Prot

Q9WTK8

Related

ENSMUSP00000104753.2, ENSMUST00000109125.8

Conserved Domains (3) summary

cd00223
Location:180 → 342

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

pfam03533
Location:2 → 43

SPO11_like; SPO11 homologue

pfam04406
Location:69 → 132

TP6A_N; Type IIB DNA topoisomerase
NM_001305434.2 → NP_001292363.1 meiotic recombination protein SPO11 isoform d

See identical proteins and their annotated locations for NP_001292363.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site at an internal exon compared to variant 1. It encodes isoform d, which is shorter than isoform a.

Source sequence(s)

AL928599, AL929140

UniProtKB/Swiss-Prot

Q9WTK8

Conserved Domains (3) summary

cd00223
Location:176 → 338

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

pfam03533
Location:2 → 43

SPO11_like; SPO11 homologue

pfam04406
Location:69 → 132

TP6A_N; Type IIB DNA topoisomerase
NM_001412470.1 → NP_001399399.1 meiotic recombination protein SPO11 isoform e

Status: VALIDATED

Source sequence(s)

AL928599, AL929140
NM_012046.3 → NP_036176.1 meiotic recombination protein SPO11 isoform a

See identical proteins and their annotated locations for NP_036176.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AL928599, AL929140

Consensus CDS

CCDS17137.1

UniProtKB/Swiss-Prot

Q8VIH6, Q9QUK2, Q9QY57, Q9QZS1, Q9WTK8

Related

ENSMUSP00000059056.10, ENSMUST00000050442.15

Conserved Domains (4) summary

cd00223
Location:218 → 380

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

PRK04342
Location:42 → 396

PRK04342; DNA topoisomerase VI subunit A; Provisional

pfam03533
Location:2 → 44

SPO11_like; SPO11 homologue

pfam04406
Location:107 → 170

TP6A_N; Type IIB DNA topoisomerase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

172819172..172835369

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006499620.4 → XP_006499683.1 meiotic recombination protein SPO11 isoform X4

Conserved Domains (1) summary

PRK04342
Location:16 → 376

PRK04342; DNA topoisomerase IV subunit A
XM_036162248.1 → XP_036018141.1 meiotic recombination protein SPO11 isoform X7

Conserved Domains (1) summary

cd00223
Location:34 → 196

TOPRIM_TopoIIB_SPO; topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) and Saccharomyces ...
XM_006499618.4 → XP_006499681.1 meiotic recombination protein SPO11 isoform X2

Conserved Domains (2) summary

PRK04342
Location:42 → 462

PRK04342; DNA topoisomerase IV subunit A

pfam03533
Location:2 → 44

SPO11_like; SPO11 homolog
XM_006499617.4 → XP_006499680.1 meiotic recombination protein SPO11 isoform X1

Conserved Domains (2) summary

PRK04342
Location:42 → 466

PRK04342; DNA topoisomerase IV subunit A

pfam03533
Location:2 → 44

SPO11_like; SPO11 homolog
XM_006499619.4 → XP_006499682.1 meiotic recombination protein SPO11 isoform X3

Conserved Domains (2) summary

PRK04342
Location:68 → 428

PRK04342; DNA topoisomerase IV subunit A

pfam03533
Location:2 → 43

SPO11_like; SPO11 homolog
XM_036162247.1 → XP_036018140.1 meiotic recombination protein SPO11 isoform X6

Conserved Domains (1) summary

cd00223
Location:34 → 266

TOPRIM_TopoIIB_SPO; topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) and Saccharomyces ...
XM_006499622.3 → XP_006499685.1 meiotic recombination protein SPO11 isoform X5

Conserved Domains (1) summary

cd00223
Location:59 → 291

TOPRIM_TopoIIB_SPO; topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) and Saccharomyces ...