FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice
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- 作者：Xianfei Sun ; Miguel A. Brieño-Enríquez ; Alyssa Cornelius…
- 关键词：Gametogenesis ; Fanconi anemia ; MLH1 ; Meiotic prophase I ; BRIP1 ; BACH1
- 刊名：Chromosoma
- 出版年：2016
- 出版时间：June 2016
- 年：2016
- 卷：125
- 期：2
- 页码：237-252
- 全文大小：1,627 KB
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Miguel A. Brieño-Enríquez (1)
Alyssa Cornelius (1)
Andrew J. Modzelewski (2)
Tyler T. Maley (1)
Kadeine M. Campbell-Peterson (1)
J. Kim Holloway (1)
Paula E. Cohen (1)
1. Department of Biomedical Sciences and Center for Reproductive Genomics, Cornell University, Tower Road, Ithaca, NY, 14853, USA
2. Department of Molecular and Cellular Biology, University of California, Berkeley, Berkeley, CA, USA - 刊物类别：Biomedical and Life Sciences
- 刊物主题：Life Sciences
Cell Biology
Developmental Biology
Biochemistry
Human Genetics
Animal Genetics and Genomics
Eukaryotic Microbiology - 出版者：Springer Berlin / Heidelberg
- ISSN：1432-0886
文摘
Fancj, the gene associated with Fanconi anemia (FA) Complementation Group J, encodes a DNA helicase involved in homologous recombination repair and the cellular response to replication stress. FANCJ functions in part through its interaction with key DNA repair proteins, including MutL homolog-1 (MLH1), Breast Cancer Associated gene-1 (BRCA1), and Bloom syndrome helicase (BLM). All three of these proteins are involved in a variety of events that ensure genome stability, including the events of DNA double strand break (DSB) repair during prophase I of meiosis. Meiotic DSBs are repaired through homologous recombination resulting in non-crossovers (NCO) or crossovers (CO). The frequency and placement of COs are stringently regulated to ensure that each chromosome receives at least one CO event, and that longer chromosomes receive at least one additional CO, thus facilitating the accurate segregation of homologous chromosomes at the first meiotic division. In the present study, we investigated the role of Fancj during prophase I using a gene trap mutant allele. Fancj GT/GT mutants are fertile, but their testes are very much smaller than wild-type littermates, predominantly as a result of impeded spermatogonial proliferation and mildly increased apoptosis during testis development in the fetus. This defect in spermatogonial proliferation is consistent with mutations in other FA genes. During prophase I, early events of synapsis and DSB induction/repair appear mostly normal in Fancj GT/GT males, and the FANCJ-interacting protein BRCA1 assembles normally on meiotic chromosome cores. However, MLH1 focus frequency is increased in Fancj GT/GT males, indicative of increased DSB repair via CO, and is concomitant with increased chiasmata at diakinesis. This increase in COs in the absence of FANCJ is associated with increased localization of BLM helicase protein, indicating that BLM may facilitate the increased rate of crossing over in Fancj GT/GT males. Taken together, these results demonstrate a critical role for FANCJ in spermatogenesis at two stages: firstly in the proliferative activity that gives rise to the full complement of testicular spermatogonia and secondly in the establishment of appropriate CO numbers during prophase I.