4.8 Article

FAAP100 is required for the resolution of transcription-replication conflicts in primordial germ cells

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

DNA repair protein FANCD2 has both ubiquitination- dependent and ubiquitination-independent functions during germ cell development

Simin Zhao et al.

Summary: When DNA interstrand crosslink lesions occur, a core complex of Fanconi anemia proteins promotes the ubiquitination of FANCD2 and FANCI, which recruit downstream factors to repair the lesion. FANCD2 maintains genome stability through both its ubiquitination-dependent and ubiquitination-independent functions. This study analyzed germ cell development in Fancd2 KO and ubiquitination-deficient mutant mice, and found that the ubiquitination-dependent and ubiquitination-independent functions of FANCD2 were required for different aspects of germ cell development.

JOURNAL OF BIOLOGICAL CHEMISTRY (2023)

Review Obstetrics & Gynecology

The neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction

Valeria Stella Vanni et al.

Summary: Biallelic FA mutations can cause premature ovarian insufficiency in women and primary non-obstructive azoospermia in men. Hypogonadism in FA patients is mainly associated with a defect in primordial germ cell proliferation. The prevalence and mechanisms of occult FA mutations in infertility and recurrent miscarriage need further exploration through state-of-the-art genetic sequencing methods.

HUMAN REPRODUCTION UPDATE (2022)

Article Multidisciplinary Sciences

Transcription-replication conflicts in primordial germ cells necessitate the Fanconi anemia pathway to safeguard genome stability

Yajuan Yang et al.

Summary: This study reveals that mouse PGCs experience a high frequency of transcription-replication conflicts, leading to replication stress and DNA damage. The FA pathway is found to play a crucial role in PGC proliferation, and disabling this pathway results in severe cell loss and sterility.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)

Review Cell Biology

Animal models of Fanconi anemia: A developmental and therapeutic perspective on a multifaceted disease

Laure Guitton-Sert et al.

Summary: Fanconi anemia (FA) is a genetic disorder characterized by developmental abnormalities, bone marrow failure, and susceptibility to cancer. Zebrafish and mouse models have been developed to simulate FA, showing phenotypes such as bone defects, sterility, and marrow failure. Studies highlight the role of aldehydes in FA pathogenesis and potential therapeutic agents like aldehyde scavengers, TGFβ inhibitors, and gene therapy have been discussed for FA treatment. The diversity of FA animal models contributes to understanding the disease etiology and developing new therapies.

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2021)

Article Multidisciplinary Sciences

Cell-fate transition and determination analysis of mouse male germ cells throughout development

Jiexiang Zhao et al.

Summary: Through single-cell sequencing, the study investigates the transcriptome landscapes of mouse male germ cells throughout development and identifies critical regulators for prenatal cell-fate determination.

NATURE COMMUNICATIONS (2021)

Article Multidisciplinary Sciences

Genetic insights into biological mechanisms governing human ovarian ageing

Katherine S. Ruth et al.

Summary: A study identified 290 genetic determinants of ovarian aging, associated with DNA damage response processes and loss-of-function variants in key DDR-associated genes. Experimental models showed that these DDR processes act across the life-course to shape ovarian reserve and its rate of depletion. Extending reproductive life in women may improve bone health and reduce the risk of type 2 diabetes, but it could increase the risk of hormone-sensitive cancers.

NATURE (2021)

Review Oncology

Hypertranscription and replication stress in cancer

Akhil Bowry et al.

Summary: Studies have shown that oncogenic signaling and targeted cancer treatments can increase global transcription activity, leading to replication stress. However, research on this hypertranscription phenomenon is often neglected compared to other causes of replication stress in cancer.

TRENDS IN CANCER (2021)

Article Biochemistry & Molecular Biology

SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations

A. Takedachi et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2020)

Article Developmental Biology

FANCD2 is required for the repression of germline transposable elements

Yan Nie et al.

REPRODUCTION (2020)

Article Cell Biology

Sexually dimorphic DNA damage responses and mutation avoidance in the mouse germline

Jordana C. Bloom et al.

GENES & DEVELOPMENT (2020)

Review Genetics & Heredity

The Fanconi Anemia Pathway and Fertility

Vanessa Tsui et al.

TRENDS IN GENETICS (2019)

Review Cell Biology

Transcription-mediated replication hindrance: a major driver of genome instability

Belen Gomez-Gonzalez et al.

GENES & DEVELOPMENT (2019)

Review Biochemistry & Molecular Biology

R Loops: From Physiological to Pathological Roles

Tatiana Garcia-Muse et al.

Article Multidisciplinary Sciences

Structure of the Fanconi anaemia monoubiquitin ligase complex

Shabih Shakeel et al.

NATURE (2019)

Article Multidisciplinary Sciences

MRE11-RAD50-NBS1 promotes Fanconi Anemia R-loop suppression at transcription-replication conflicts

Emily Yun-Chia Chang et al.

NATURE COMMUNICATIONS (2019)

Article Multidisciplinary Sciences

Staged developmental mapping and X chromosome transcriptional dynamics during mouse spermatogenesis

Christina Ernst et al.

NATURE COMMUNICATIONS (2019)

Review Genetics & Heredity

Multifaceted Fanconi Anemia Signaling

Raymond Che et al.

TRENDS IN GENETICS (2018)

Article Multidisciplinary Sciences

Alcohol and endogenous aldehydes damage chromosomes and mutate stem cells

Juan I. Garaycoechea et al.

NATURE (2018)

Review Oncology

Fanconi anaemia and cancer: an intricate relationship

Grzegorz Nalepa et al.

NATURE REVIEWS CANCER (2018)

Article Medicine, Research & Experimental

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

Kerstin Knies et al.

JOURNAL OF CLINICAL INVESTIGATION (2017)

Article Biochemistry & Molecular Biology

Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway

Sylvie van Twest et al.

MOLECULAR CELL (2017)

Review Genetics & Heredity

The impact of replication stress on replication dynamics and DNA damage in vertebrate cells

Herve Techer et al.

NATURE REVIEWS GENETICS (2017)

Review Biochemistry & Molecular Biology

Maintenance of genome stability by Fanconi anemia proteins

Anna Palovcak et al.

CELL AND BIOSCIENCE (2017)

Review Hematology

How I manage patients with Fanconi anaemia

Carlo Dufour

BRITISH JOURNAL OF HAEMATOLOGY (2017)

Review Cell & Tissue Engineering

Gametogenesis from Pluripotent Stem Cells

Mitinori Saitou et al.

CELL STEM CELL (2016)

Article Biochemical Research Methods

The DNA fibre technique - tracking helicases at work

Jadwiga Nieminuszczy et al.

METHODS (2016)

Review Cell Biology

Transcription-replication conflicts: how they occur and how they are resolved

Tatiana Garcia-Muse et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2016)

Review Cell Biology

The Fanconi anaemia pathway: newyplayers and new functions

Raphael Ceccaldi et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2016)

Review Biochemistry & Molecular Biology

The pol II CTD: new twists in the tail

Justyna Zaborowska et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2016)

Article Biochemistry & Molecular Biology

FANCD2 limits replication stress and genome instability in cells lacking BRCA2

Johanna Michl et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2016)

Review Biochemistry & Molecular Biology

The pol II CTD: new twists in the tail

Justyna Zaborowska et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2016)

Article Biochemistry & Molecular Biology

FANCD2 limits replication stress and genome instability in cells lacking BRCA2

Johanna Michl et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2016)

Review Reproductive Biology

How Is the Number of Primordial Follicles in the Ovarian Reserve Established?

John K. Findlay et al.

BIOLOGY OF REPRODUCTION (2015)

Article Biochemistry & Molecular Biology

FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis

Yasuko Kato et al.

HUMAN MOLECULAR GENETICS (2015)

Article Biochemistry & Molecular Biology

The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription

Rebekka A. Schwab et al.

MOLECULAR CELL (2015)

Article Biochemistry & Molecular Biology

BOD1L Is Required to Suppress Deleterious Resection of Stressed Replication Forks

Martin R. Higgs et al.

MOLECULAR CELL (2015)

Article Genetics & Heredity

The Fanconi Anemia Pathway Protects Genome Integrity from R-loops

Mara L. Garcia-Rubio et al.

PLOS GENETICS (2015)

Review Genetics & Heredity

Update of the human and mouse Fanconi anemia genes

Hongbin Dong et al.

HUMAN GENOMICS (2015)

Article Biochemistry & Molecular Biology

The Genetic and Biochemical Basis of FANCD2 Monoubiquitination

Eeson Rajendra et al.

MOLECULAR CELL (2014)

Review Cell Biology

Causes and consequences of replication stress

Michelle K. Zeman et al.

NATURE CELL BIOLOGY (2014)

Article Cell Biology

Modularized Functions of the Fanconi Anemia Core Complex

Yaling Huang et al.

CELL REPORTS (2014)

Review Oncology

DNA interstrand crosslink repair and cancer

Andrew J. Deans et al.

NATURE REVIEWS CANCER (2011)

Review Biochemistry & Molecular Biology

Blinded by the Light: The Growing Complexity of p53

Karen H. Vousden et al.

Review Biochemistry & Molecular Biology

Ribonuclease H: the enzymes in eukaryotes

Susana M. Cerritelli et al.

FEBS JOURNAL (2009)

Article Multidisciplinary Sciences

The Fanconi Anemia Pathway Promotes Replication-Dependent DNA Interstrand Cross-Link Repair

Puck Knipscheer et al.

SCIENCE (2009)

Article Biochemistry & Molecular Biology

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair

Agata Smogorzewska et al.

Article Biochemistry & Molecular Biology

FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway

Chen Ling et al.

EMBO JOURNAL (2007)

Review Multidisciplinary Sciences

The DNA damage response: putting checkpoints in perspective

BBS Zhou et al.

NATURE (2000)