Disruption of CHTF18 causes defective meiotic recombination in male mice.

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 devel...

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Main Authors: Karen M Berkowitz, Aislinn R Sowash, Lydia R Koenig, Dawnette Urcuyo, Fahmida Khan, Fang Yang, P Jeremy Wang, Thomas A Jongens, Klaus H Kaestner
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002996&type=printable
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author Karen M Berkowitz
Aislinn R Sowash
Lydia R Koenig
Dawnette Urcuyo
Fahmida Khan
Fang Yang
P Jeremy Wang
Thomas A Jongens
Klaus H Kaestner
author_facet Karen M Berkowitz
Aislinn R Sowash
Lydia R Koenig
Dawnette Urcuyo
Fahmida Khan
Fang Yang
P Jeremy Wang
Thomas A Jongens
Klaus H Kaestner
author_sort Karen M Berkowitz
collection DOAJ
description 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.
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spelling doaj-art-a4f828a58af14df78693ac71a8bbb9b72025-08-20T03:11:58ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042012-01-01811e100299610.1371/journal.pgen.1002996Disruption of CHTF18 causes defective meiotic recombination in male mice.Karen M BerkowitzAislinn R SowashLydia R KoenigDawnette UrcuyoFahmida KhanFang YangP Jeremy WangThomas A JongensKlaus H KaestnerCHTF18 (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.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002996&type=printable
spellingShingle Karen M Berkowitz
Aislinn R Sowash
Lydia R Koenig
Dawnette Urcuyo
Fahmida Khan
Fang Yang
P Jeremy Wang
Thomas A Jongens
Klaus H Kaestner
Disruption of CHTF18 causes defective meiotic recombination in male mice.
PLoS Genetics
title Disruption of CHTF18 causes defective meiotic recombination in male mice.
title_full Disruption of CHTF18 causes defective meiotic recombination in male mice.
title_fullStr Disruption of CHTF18 causes defective meiotic recombination in male mice.
title_full_unstemmed Disruption of CHTF18 causes defective meiotic recombination in male mice.
title_short Disruption of CHTF18 causes defective meiotic recombination in male mice.
title_sort disruption of chtf18 causes defective meiotic recombination in male mice
url https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002996&type=printable
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