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PMID:23133398

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Citation

Berkowitz, KM, Sowash, AR, Koenig, LR, Urcuyo, D, Khan, F, Yang, F, Wang, PJ, Jongens, TA and Kaestner, KH (2012) Disruption of CHTF18 causes defective meiotic recombination in male mice. PLoS Genet. 8:e1002996

Abstract

CHTF18 (chromosome transmission fidelity factor 18) is an evolutionarily conserved subunit of the Replication Factor C-like complex, CTF18-RLC. CHTF18 is necessary for the faithful passage of chromosomes from one daughter cell to the next during mitosis in yeast, and it is crucial for germline development in the fruitfly. Previously, we showed that mouse Chtf18 is expressed throughout the germline, suggesting a role for CHTF18 in mammalian gametogenesis. To determine the role of CHTF18 in mammalian germ cell development, we derived mice carrying null and conditional mutations in the Chtf18 gene. Chtf18-null males exhibit 5-fold decreased sperm concentrations compared to wild-type controls, resulting in subfertility. Loss of Chtf18 results in impaired spermatogenesis; spermatogenic cells display abnormal morphology, and the stereotypical arrangement of cells within seminiferous tubules is perturbed. Meiotic recombination is defective and homologous chromosomes separate prematurely during prophase I. Repair of DNA double-strand breaks is delayed and incomplete; both RAD51 and γH2AX persist in prophase I. In addition, MLH1 foci are decreased in pachynema. These findings demonstrate essential roles for CHTF18 in mammalian spermatogenesis and meiosis, and suggest that CHTF18 may function during the double-strand break repair pathway to promote the formation of crossovers.

Links

PubMed PMC3486840 Online version:10.1371/journal.pgen.1002996

Keywords

Animals; Carrier Proteins/genetics; DNA Breaks, Double-Stranded; Germ Cells/metabolism; Histones/metabolism; Humans; Infertility/genetics; Male; Meiosis/genetics; Meiotic Prophase I; Mice; Rad51 Recombinase/metabolism; Recombination, Genetic/genetics; Spermatogenesis/genetics; Spermatozoa/pathology

Significance

Annotations

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

MOUSE:H2AX

located_in

GO:0001741: XY body

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:H2AX

located_in

GO:0035861: site of double-strand break

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000017)

Seeded From UniProt

complete

MOUSE:SYCP3

located_in

GO:0000800: lateral element

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000017)

Seeded From UniProt

complete

MOUSE:RAD51

located_in

GO:0005634: nucleus

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000017)

Seeded From UniProt

complete

MOUSE:SYCP1

located_in

GO:0000801: central element

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000017)

Seeded From UniProt

complete

MOUSE:CTF18

acts_upstream_of_or_within

GO:0007140: male meiotic nuclear division

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2177588

P

Seeded From UniProt

complete

MOUSE:CTF18

acts_upstream_of_or_within

GO:0007131: reciprocal meiotic recombination

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2177588

P

  • occurs_in:(CL:0000017)

Seeded From UniProt

complete

MOUSE:CTF18

acts_upstream_of_or_within

GO:0051985: negative regulation of chromosome segregation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2177588

P

  • regulates_o_occurs_in:(CL:0000017)
  • happens_during:(GO:0000240)

Seeded From UniProt

complete

MOUSE:CTF18

acts_upstream_of_or_within

GO:0048468: cell development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2177588

P

  • results_in_development_of:(CL:0000020)

Seeded From UniProt

complete

MOUSE:SYCP2

located_in

GO:0000800: lateral element

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000017)

Seeded From UniProt

complete

MOUSE:SYCP1

part_of

GO:0000801: central element

ECO:0000314: direct assay evidence used in manual assertion

C

part_of:(CL:0000017)

Seeded From UniProt

complete

MOUSE:H2AX

part_of

GO:0001741: XY body

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:H2AX

part_of

GO:0035861: site of double-strand break

ECO:0000314: direct assay evidence used in manual assertion

C

part_of:(CL:0000017)

Seeded From UniProt

complete

Notes

See also

References

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