Apoptosis and meiotic segregation in ejaculated sperm from Robertsonian translocation carrier patients

Brugnon, Florence; Janny, L.; Communal, Y; Darcha, Claude; Szczepaniak, Claire; Pellestor, Franck; Vago, Philippe; Pons-Rejraji, Hanae; Artonne, Christine; Grizard, G.

doi:10.1093/humrep/deq113

Cited by 37 publications

(43 citation statements)

References 48 publications

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“…Eaker et al [9] showed increased apoptosis markers and asynapsis in unbalanced sperm in the mouse. Increased apoptosis markers were shown in humans as well [6,7]. The nature of the rearrangement, i.e.…”

Section: Discussionmentioning

confidence: 99%

“…It can be argued that this association between chromosomal imbalance and DNA fragmentation has only been shown in ten patients so far (four by Perrin et al in [18], and six in the present study). However, since the association between DNA fragmentation, apoptosis markers, and chromosomal rearrangements has been evidenced in multiple studies [6,7,17], it is possible than in most if not all of the patients analyzed in those studies, DNA fragmentation is more often found among unbalanced spermatozoa. Therefore, it is likely that our population of six patients is representative of the chromosomal events in sperm from translocations carriers.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies on the subject stated that chromosomal rearrangements were associated with elevated global levels of DNA fragmentation and apoptosis [6,7,17]. However those studies were carried out in reproductive medicine centers, and most subjects initially consulted for infertility.…”

Section: Discussionmentioning

confidence: 99%

“…With the exception of the study by Perrin et al [18], these studies report a global analysis of the semen in these men, thus preventing the distinction between balanced and unbalanced sperm cells [6,7,17]. Eaker et al [9] showed increased apoptosis markers and asynapsis in unbalanced sperm in the mouse.…”

Section: Discussionmentioning

confidence: 99%

“…It has been shown that patients carrying a chromosomal rearrangement have significantly higher global sperm DNA fragmentation levels and expression of apoptosis markers than subjects with a normal karyotype [6,7,18]. However, in these studies, spermatozoa have been analyzed as a whole and no relationship between the level of DNA fragmentation and a particular nuclear content was evidenced.…”

Section: Introductionmentioning

confidence: 99%

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Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers

Pyram

Pollet-Villard

Hyon

et al. 2013

J Assist Reprod Genet

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Purpose Balanced chromosomal translocations are found in one out of 500 subjects in the general population. They usually do not carry any phenotypic consequences, except for possible infertility and for the production of unbalanced gametes leading to spontaneous abortions or chromosomal syndromes in the offspring. An association between chromosomal rearrangements and increased apoptosis markers has been demonstrated on a global scale in sperm samples of translocation and inversion carriers. In order to specify which kind of sperm cells is subject to an increased apoptosis process, this present study was aimed to analyse both chromosomal segregation and DNA fragmentation, sperm cell by sperm cell. Methods Six patients carrying a chromosomal rearrangement (three reciprocal translocations, two Robertsonian translocations, and one chromosomal pericentric inversion) were included in a retrospective manner. Both DNA fragmentation and chromosomal segregation in spermatozoa were evaluated simultaneously using a modified TUNEL assay associated with FISH. Two thousand spermatozoa were analysed for each patient. ResultsWe showed a higher proportion of spermatozoa with fragmented DNA among the unbalanced sperm cells, compared to the balanced ones, in all six patients. Conclusions These results suggest an increased fragility of unbalanced spermatozoa to exogenous fragmentation factors. The exact mechanisms of those processes remain to be elucidated.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers

Pyram

Pollet-Villard

Hyon

et al. 2013

J Assist Reprod Genet

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How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?

Wiland

Olszewska

Woźniak

et al. 2020

Cell. Mol. Life Sci.

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In men with oligozoospermia, Robertsonian translocations (RobTs) are the most common type of autosomal aberrations. The most commonly occurring types are rob(13;14) and rob(14;21), and other types of RobTs are described as ‘rare’ cases. Based on molecular research, all RobTs can be broadly classified into Class 1 and Class 2. Class 1 translocations produce the same breakpoints within their RobT type, but Class 2 translocations are predicted to form during meiosis or mitosis through a variety of mechanisms, resulting in variation in the breakpoint locations. This review seeks to analyse the available data addressing the question of whether the molecular classification of RobTs into Classes 1 and 2 and/or the type of DD/GG/DG symmetry of the involved chromosomes is reflected in the efficiency of spermatogenesis. The lowest frequency value calculated for the rate of alternate segregants was found for rob(13;15) carriers (Class 2, symmetry DD) and the highest for rob(13;21) carriers (Class 2, DG symmetry). The aneuploidy values for the rare RobT (Class 2) and common rob(14;21) (Class 1) groups together exhibited similarities while differing from those for the common rob(13;14) (Class 1) group. Considering the division of RobT carriers into those with normozoospermia and those with oligoasthenozoospermia, it was found that the number of carriers with elevated levels of aneuploidy was unexpectedly quite similar and high (approx. 70%) in the two subgroups. The reason(s) that the same RobT does not always show a similar destructive effect on fertility was also pointed out.

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Chromosomal segregation in sperm of Robertsonian translocation carriers

Pylyp

Zukin

Bilko

2013

J Assist Reprod Genet

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Purpose To study meiotic segregation patterns of Robertsonian translocations in sperm of male carriers and to assess the frequencies of unbalanced sperm formation. Methods FISH with combination of probes to detect all the variants of meiotic segregation was performed on decondensed sperm nuclei of 5 carriers of der(13;14), 3 carriers of der(14;21) and one carrier of a rare der(13;21) translocation. Results The frequency of sperm with alternate segregation and normal/balanced chromosomal complement ranged from 68 % to 94.4 % (mean 79.2±8.4). Adjacent segregation was detected in 17.9±7.3 % of sperm (from 5.6 % to 29 %). No significant differences in frequencies of gametes with nullisomies and disomies of chromosomes involved in translocations were observed. The mean frequency of 3:0 segregation products was 2.5±1.4 %. Conclusions All analyzed patients showed homogenous segregation pattern with clear predominance of alternate segregation resulting in normal/balanced sperm production. Still, from 5.8-32 % (mean 20.4±8.3 %) of sperm was unbalanced, which is the evidence of the increased risk of unbalanced offspring in carriers of Robertsonian translocations. Our results highlight the importance of genetic counseling of Robertsonian translocation carriers prior to ICSI or IVF.

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Apoptosis and meiotic segregation in ejaculated sperm from Robertsonian translocation carrier patients

Cited by 37 publications

References 48 publications

Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers

Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers

How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?

Chromosomal segregation in sperm of Robertsonian translocation carriers

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