Topology of chromosome centromeres in human sperm nuclei with high levels of DNA damage

Wiland, Ewa; Frączek, Monika; Olszewska, Marta; Kurpisz, Maciej

doi:10.1038/srep31614

Cited by 13 publications

(14 citation statements)

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“…Additionally, in most RCT males analysed in this study, repositioning of sex chromosomes was observed (X – 10/13; Y – 11/13), clearly suggesting their vulnerability to repositioning. This finding also strongly confirms previous data showing that the repositioning of sex chromosomes towards the sperm nuclear periphery accompanies disturbances in spermatogenesis in males with reproductive failure [21–25, 27, 28, 55]. In control spermatozoa, preferential X chromosome localization was observed in the acrosomal area, which is the first region that interacts with the ooplasm during fertilization [6, 13, 22–24, 52, 55, 56].…”

Section: Discussionsupporting

confidence: 91%

“…The topology of chromosomes 4, 7, 8, 9, 10, 11, 18, X and Y was estimated in linear and radial measurement patterns, explained in Fig. 1, as developed by Zalenskaya and Zalensky [52] and successfully used in our previous topology studies [22–25]. In the case of chromosomes involved in RCT, in addition to centromere-specific FISH probes, probes specific for subtelomeric regions were also used (colour combinations described previously [45, 47, 48]).…”

Section: Methodsmentioning

confidence: 99%

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Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of reciprocal chromosome translocation (RCT)

et al. 2019

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BackgroundNon-random chromosome positioning has been observed in the nuclei of several different tissue types, including human spermatozoa. The nuclear arrangement of chromosomes can be altered in men with decreased semen parameters or increased DNA fragmentation and in males with chromosomal numerical or structural aberrations. An aim of this study was to determine whether and how the positioning of nine chromosome centromeres was (re)arranged in the spermatozoa of fathers and sons – carriers of the same reciprocal chromosome translocation (RCT).MethodsFluorescence in situ hybridization (FISH) was applied to analyse the positioning of sperm chromosomes in a group of 13 carriers of 11 RCTs, including two familial RCT cases: t(4;5) and t(7;10), followed by analysis of eight control individuals. Additionally, sperm chromatin integrity was evaluated using TUNEL and Aniline Blue techniques.ResultsIn the analysed familial RCT cases, repositioning of the chromosomes occurred in a similar way when compared to the data generated in healthy controls, even if some differences between father and son were further observed. These differences might have arisen from various statuses of sperm chromatin disintegration.ConclusionsNuclear topology appears as another aspect of epigenetic genomic regulation that may influence DNA functioning. We have re-documented that chromosomal positioning is defined in control males and that a particular RCT is reflected in the individual pattern of chromosomal topology. The present study examining the collected RCT group, including two familial cases, additionally showed that chromosomal factors (karyotype and hyperhaploidy) have superior effects, strongly influencing the chromosomal topology, when confronted with sperm chromatin integrity components (DNA fragmentation or chromatin deprotamination).Electronic supplementary materialThe online version of this article (10.1186/s12920-018-0470-7) contains supplementary material, which is available to authorized users.

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Section: Discussionsupporting

confidence: 91%

Section: Methodsmentioning

confidence: 99%

Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of reciprocal chromosome translocation (RCT)

et al. 2019

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“…A study by Simon et al [62] , identified a positive correlation between the Comet and TUNEL assays ( r 2 = 0.126; P < 0.001) in couples undergoing ART. The TUNEL and SCSA assays exhibited similar results for SDF in infertile patients compared with a control population [63] and there was a strong correlation for the TUNEL and SCSA assays [64] .…”

Section: Correlation Amongst Different Sdf Assaysmentioning

confidence: 68%

A systematic review on sperm DNA fragmentation in male factor infertility: Laboratory assessment

Selvam

Agarwal

2018

Arab Journal of Urology

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ObjectiveTo review sperm DNA fragmentation (SDF) testing as an important sperm function test in addition to conventional semen analysis. High SDF is negatively associated with semen quality, the fertilisation process, embryo quality, and pregnancy outcome. Over recent decades, different SDF assays have been developed and reviewed extensively to assess their applicability and accuracy as advanced sperm function tests. Amongst them, the standardisation of the terminal deoxynucleotidyl transferased UTP nick-end labelling (TUNEL) assay with a bench top flow cytometer in clinical practice deserves special mention with a threshold value of 16.8% to differentiate infertile men with DNA damage from fertile men.Materials and methodsA systematic literature search was performed through the PubMed, Medline, and ScienceDirect databases using the keywords ‘sperm DNA fragmentation’ and ‘laboratory assessment’. Non-English articles were excluded and studies related to humans were only included.ResultsOf the 618 identified, 87 studies (original research and reviews) and in addition eight book chapters meeting the selection criteria were included in this review. In all, 366 articles were rejected in the preliminary screening and a further 165 articles related to non-human subjects were excluded.ConclusionThere are pros and cons to all the available SDF assays. TUNEL is a reliable technique with greater accuracy and as an additional diagnostic test in Andrology laboratories along with basic semen analysis can predict fertility outcome, and thus direct the choice of an assisted reproductive technology procedure for infertile couples. Also, the TUNEL assay can be used as a prognostic test and results are beneficial in deciding personalised treatment for infertile men.

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“…This is supported by the fact that we did not record significant differences in the distribution of the chromosomes, in the four arbitrarily defined regions, when comparing WT and transgenic sperm ( Table 1 ). However, a recent study did show that high levels of DNA damage in human sperm (such as significant DNA fragmentation) could disrupt the position of the centromeres [ 68 ]. This suggested that chromosome 3D organization may be impacted depending on the level of sperm DNA damage.…”

Section: Discussionmentioning

confidence: 99%

Nuclear Integrity but Not Topology of Mouse Sperm Chromosome is Affected by Oxidative DNA Damage

Champroux

Damon-Soubeyrand

Goubely

et al. 2018

Genes

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Recent studies have revealed a well-defined higher order of chromosome architecture, named chromosome territories, in the human sperm nuclei. The purpose of this work was, first, to investigate the topology of a selected number of chromosomes in murine sperm; second, to evaluate whether sperm DNA damage has any consequence on chromosome architecture. Using fluorescence in situ hybridization, confocal microscopy, and 3D-reconstruction approaches we demonstrate that chromosome positioning in the mouse sperm nucleus is not random. Some chromosomes tend to occupy preferentially discrete positions, while others, such as chromosome 2 in the mouse sperm nucleus are less defined. Using a mouse transgenic model (Gpx5−/−) of sperm nuclear oxidation, we show that oxidative DNA damage does not disrupt chromosome organization. However, when looking at specific nuclear 3D-parameters, we observed that they were significantly affected in the transgenic sperm, compared to the wild-type. Mild reductive DNA challenge confirmed the fragility of the organization of the oxidized sperm nucleus, which may have unforeseen consequences during post-fertilization events. These data suggest that in addition to the sperm DNA fragmentation, which is already known to modify sperm nucleus organization, the more frequent and, to date, the less highly-regarded phenomenon of sperm DNA oxidation also affects sperm chromatin packaging.

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Topology of chromosome centromeres in human sperm nuclei with high levels of DNA damage

Cited by 13 publications

References 56 publications

Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of reciprocal chromosome translocation (RCT)

Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of reciprocal chromosome translocation (RCT)

A systematic review on sperm DNA fragmentation in male factor infertility: Laboratory assessment

Nuclear Integrity but Not Topology of Mouse Sperm Chromosome is Affected by Oxidative DNA Damage

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