Cooperation of Blm and Mus81 in development, fertility, genomic integrity and cancer suppression

Ghamrasni, Samah El; Cardoso, Renato; Halaby, Marie-Jo; Zeegers, Dimphy; Harding, Shane M.; Kumareswaran, Ramanan; Yavorska, Tetyana; Chami, N; Jurisicova, Andrea; Sánchez, Otto; Hande, M. Prakash; Bristow, Robert G.; Hakem, Razqallah; Hakem, Anne

doi:10.1038/onc.2014.121

Cited by 16 publications

(12 citation statements)

References 55 publications

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“…The study has demonstrated that infertile men with various semen parameters exhibited a significantly high level of mean SCE (Papachristou et al, ); however, nonsmokers were not included. An elevated level of SCE frequency and infertility is also involved in the pathophysiology of Bloom syndrome which is an autosomal recessive disorder (El Ghamrasni et al, ). Studies mentioned above have demonstrated that SCE is associated with smoking and malefactor infertility; therefore, smoking‐induced SCE may be one of the reasons of infertility in men.…”

Section: Cigarette Smoking and Genetic Alterationsmentioning

confidence: 99%

Smoking-induced genetic and epigenetic alterations in infertile men

et al. 2018

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Male fertility rates have shown a progressive decrease in both developing and industrialised countries in the past 50 years. Clinical and epidemiological studies have demonstrated controversial results about the harmful effects of cigarette smoking on seminal parameters. Some studies could not establish a negative effect by tobacco smoking on sperm quality and function, whereas others have found a significant reduction in sperm quality and function. This study reviews the components in cigarette smoke and discusses the effects of smoking on male fertility by focusing extensively on smoking-induced genetic and epigenetic alterations in infertile men. Chromosomal aneuploidies, sperm DNA fragmentation and gene mutations are discussed in the first section, while changes in DNA methylation, chromatin remodelling and noncoding RNAs are discussed in the second section as part of epigenetic alterations.

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Section: Cigarette Smoking and Genetic Alterationsmentioning

confidence: 99%

Smoking-induced genetic and epigenetic alterations in infertile men

et al. 2018

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“…In mice, the requirements of HSP90AA1, MAPK1 and PRMT5 for spermatogenesis have been shown, and the absence of one of these genes leads to germ cell reduction or inhibition of proliferation (Grad et al, ; Thuillier et al, ; Wang et al, ). However, studies on some p53‐related genes, such as BLM and SUMO3, have demonstrated that a deficiency in one gene does not cause infertility (El Ghamrasni et al, ; Wang et al, ). These genes are necessary factors whose deficiency sensitises germ cells to DNA damage rather than exerting direct effects.…”

Section: Discussionmentioning

confidence: 99%

“…These genes are necessary factors whose deficiency sensitises germ cells to DNA damage rather than exerting direct effects. Blm −/− or Mus81 −/− single‐mutant mice do not exhibit sterility, but Blm −/− Mus81 −/− double‐mutant mice show a severe reduction in spermatogonial germ cells (El Ghamrasni et al, ). Sumo3 −/− mice also appear to have no defect in fertility (Wang et al, ).…”

Section: Discussionmentioning

confidence: 99%

Microarray meta‐analysis identifies candidate genes for human spermatogenic arrest

Fang

Chen

et al. 2019

Andrologia

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Male infertility affects approximately half of couples who have difficulty becoming pregnant, and its prevalence is continuously rising. Many studies have been performed using animal testes to reveal the mechanisms of male infertility, but few studies have investigated human testes due to various limitations. The aim of this study was to investigate the gene expression profile of impaired human testes through a meta‐analysis of microarray data sets, which was accomplished by using 178 human testis samples and 7 microarray data sets. Impaired testes were categorised into four pathological phenotypes or the normal phenotype based on their Johnsen score. Then, a meta‐analysis was performed to screen out the differentially expressed genes (DEGs) in each phenotype. The DEGs were used in a subsequent bioinformatics analysis. Our results identified several novel hub genes and pathways and suggested that G1 mitotic cell cycle arrest was a remarkable feature in pre‐meiotic arrest. Furthermore, fifteen p53‐interacting proteins, such as ABL1 and HDAC2, whose roles in spermatogenesis have not been well characterised, were selected from the DEGs through a strict screening procedure.

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“…Joint molecule structures that may differ from Holliday junctions are formed during replication restart [84]. Holliday junctions have to be resolved before anaphase; otherwise, chromatid nondisjunction or breakage will occur [84][85][86]. There are four evolutionarily conserved pathways that deal with Holliday junctions or similar joint molecules (illustrated in Figure 1a and reviewed in [87]).…”

Section: Resolution Of Holliday Junctionsmentioning

confidence: 99%

Genomic Instability in Fungal Plant Pathogens

Covo

2020

Genes

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Fungi and fungal-like organisms (oomycetes) that cause diseases in plants have impacted human communities for centuries and probably from the dawn of agriculture. In modern agriculture, there is a constant race between new strategies to manage fungal plant pathogens and their ability to adapt. An important component in this race is fungal genetic diversity. Mechanisms such as sexual and parasexual recombination that contribute to the creation of novel allele combinations in fungal plant pathogens are briefly discussed in the first part of this review. Advances in genomics have enabled the investigation of chromosomal aberrations of agriculturally important fungal isolates at the nucleotide level. Some of these cases are summarized in the second part of this review; it is claimed that the effect of chromosomal aberrations on pathogenicity should be studied mechanistically. More data on the effect of gene copy number variations on phenotypes that are relevant to agriculture are especially needed. Genome rearrangements through translocations have shaped the genome of fungal plant pathogens by creating lineage-specific chromosome territories encoding for genes participating in plant diseases. Pathogenicity chromosomes are unique cases of such lineage-specific genetic elements, interestingly these chromosomes can be transferred horizontally and thus transforming a non-pathogenic strain to a pathogenic one. The third part of this review describes our attempts to reveal mutators in fungal plant pathogens by identifying fungi that lack important DNA repair genes or respond to DNA damage in an unconventional way. We found that a group of fungal plant pathogens lack conserved genes that are needed for an important Holliday junction resolution pathway. In addition, in Fusarium oxysporum, the rate-limiting step in dNTP production is not induced under DNA replication stress. This is very different from organisms from bacteria to humans. It remains to be seen if these mechanisms promote genetic instability in fungal plant pathogens.

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Cooperation of Blm and Mus81 in development, fertility, genomic integrity and cancer suppression

Cited by 16 publications

References 55 publications

Smoking-induced genetic and epigenetic alterations in infertile men

Smoking-induced genetic and epigenetic alterations in infertile men

Microarray meta‐analysis identifies candidate genes for human spermatogenic arrest

Genomic Instability in Fungal Plant Pathogens

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