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PMID:22011390

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Citation

La Salle, S, Palmer, K, O'Brien, M, Schimenti, JC, Eppig, J and Handel, MA (2012) Spata22, a novel vertebrate-specific gene, is required for meiotic progress in mouse germ cells. Biol. Reprod. 86:45

Abstract

The N-ethyl-N-nitrosourea-induced repro42 mutation, identified by a forward genetics strategy, causes both male and female infertility, with no other apparent phenotypes. Positional cloning led to the discovery of a nonsense mutation in Spata22, a hitherto uncharacterized gene conserved among bony vertebrates. Expression of both transcript and protein is restricted predominantly to germ cells of both sexes. Germ cells of repro42 mutant mice express Spata22 transcript, but not SPATA22 protein. Gametogenesis is profoundly affected by the mutation, and germ cells in repro42 mutant mice do not progress beyond early meiotic prophase, with subsequent germ cell loss in both males and females. The Spata22 gene is essential for one or more key events of early meiotic prophase, as homologous chromosomes of mutant germ cells do not achieve normal synapsis or repair meiotic DNA double-strand breaks. The repro42 mutation thus identifies a novel mammalian germ cell-specific gene required for meiotic progression.

Links

PubMed PMC3290669 Online version:10.1095/biolreprod.111.095752

Keywords

Amino Acid Sequence; Animals; Cell Cycle Proteins/analysis; Cell Cycle Proteins/genetics; Cell Cycle Proteins/physiology; Codon, Nonsense/genetics; Female; Infertility, Female/genetics; Infertility, Female/physiopathology; Infertility, Male/genetics; Infertility, Male/physiopathology; Male; Meiosis/physiology; Mice; Mice, Inbred C3H; Mice, Inbred C57BL; Mice, Mutant Strains; Molecular Sequence Data; Oocytes/physiology; Oogenesis/genetics; Oogenesis/physiology; Phenotype; Proteins/analysis; Proteins/genetics; Proteins/physiology; Spermatocytes/physiology; Spermatogenesis/genetics; Spermatogenesis/physiology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:SYCP3

located_in

GO:0000800: lateral element

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:SPT22

acts_upstream_of_or_within

GO:0007129: homologous chromosome pairing at meiosis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5314540

P

Seeded From UniProt

complete

MOUSE:SYCP1

located_in

GO:0000795: synaptonemal complex

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:SYCP2

located_in

GO:0000800: lateral element

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:SYCP1

part_of

GO:0000795: synaptonemal complex

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:SPT22

acts_upstream_of_or_within

GO:0009566: fertilization

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5314540

P

Seeded From UniProt

complete

MOUSE:SPT22

acts_upstream_of_or_within

GO:0007276: gamete generation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5314540

P

Seeded From UniProt

complete

MOUSE:SPT22

acts_upstream_of_or_within

GO:0007129: synapsis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5314540

P

Seeded From UniProt

complete

MOUSE:SPT22

acts_upstream_of_or_within

GO:0000711: meiotic DNA repair synthesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5314540

P

Seeded From UniProt

complete

MOUSE:SPT22

acts_upstream_of_or_within

GO:0051445: regulation of meiotic cell cycle

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5314540

P

Seeded From UniProt

complete

MOUSE:SPT22

acts_upstream_of_or_within

GO:0061458: reproductive system development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5314540

P

Seeded From UniProt

complete

See also

References

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