Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14)

Mahjoub, Manel; Mehdi, Meriem; Brahem, Sonia; Elghezal, Hatem; Ibala, Samira; Saâd, Ali

doi:10.1007/s10815-011-9560-6

Cited by 19 publications

(11 citation statements)

References 25 publications

(37 reference statements)

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“…Afterward, meiotic segregation patterns were determined with molecular karyotype. Numerous products could be generated and alternate segregation products were the most frequent, followed by adjacent product and 3:0 product, which were consistent with previous studies ( Mahjoub et al, 2011 ; Bernicot et al, 2012 ; Pylyp et al, 2013 ; Wang et al, 2017 ; Zhang et al, 2019a ). However, the outcomes of different carriers also presented meiotic heterogeneity ( Bint et al, 2011 ; Ko et al, 2013 ; Zhang et al, 2019a ).…”

Section: Discussionsupporting

confidence: 92%

“…Studies of the meiosis segregation patterns of the trivalent structure were performed on sperm with fluorescence in situ hybridization (FISH). Previous studies indicate that alternate segregation products are the most common, ranging from 68.0 to 94.4% of all segregation products, followed by adjacent, and 3:0 segregation products ( Mahjoub et al, 2011 ; Bernicot et al, 2012 ; Pylyp et al, 2013 ; Kirkpatrick et al, 2015 ; Wang et al, 2017 ). Some studies reported that the translocationoutcomes showed heterogeneity between different translocation carriers’ gender.…”

Section: Introductionmentioning

confidence: 99%

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Meiotic Heterogeneity of Trivalent Structure and Interchromosomal Effect in Blastocysts With Robertsonian Translocations

Zhang

Chen

et al. 2021

Front. Genet.

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BackgroundRobertsonian translocations are common structural rearrangements and confer an increased genetic reproductive risk due to the formation of trivalent structure during meiosis. Studies on trivalent structure show meiotic heterogeneity between different translocation carriers, although the factors causing heterogeneity have not been well elaborated in blastocysts. It is also not yet known whether interchromosomal effect (ICE) phenomenon occurs in comparison with suitable non-translocation control patients. Herein, we aimed to evaluate the factors that cause meiotic heterogeneity of trivalent structure and the ICE phenomenon.MethodsWe designed a retrospective study, comprising 217 Robertsonian translocation carriers and 134 patients with the risk of transmitting monogenic inherited disorders (RTMIDs) that underwent preimplantation genetic testing (PGT). Data was collected between March 2014 and December 2019. The segregation products of trivalent structure were analyzed based on the carrier’s gender, age and translocation type. In addition, to analyze ICE phenomenon, aneuploidy abnormalities of non-translocation chromosomes from Robertsonian translocation carriers were compared with those from patients with RTMIDs.ResultsWe found that the percentage of male carriers with alternate segregation pattern was significantly higher [P < 0.001, odds ratio (OR) = 2.95] than that in female carriers, while the percentage of adjacent segregation pattern was lower (P < 0.001, OR = 0.33). By contrast, no difference was observed between young and older carriers when performing stratified analysis by age. Furthermore, segregation pattern was associated with the D;G chromosomes involved in Robertsonian translocation: the rate of alternate segregation pattern in Rob(13;14) carriers was significantly higher (P = 0.010, OR = 1.74) than that in Rob(14;21) carriers, whereas the rate of adjacent segregation pattern was lower (P = 0.032, OR = 0.63). Moreover, the results revealed that the trivalent structure could significantly increase the frequencies of chromosome aneuploidies 1.30 times in Robertsonian translocation carriers compared with patients with RTMIDs (P = 0.026), especially for the male and young subgroups (P = 0.030, OR = 1.35 and P = 0.012, OR = 1.40), while the mosaic aneuploidy abnormalities presented no statistical difference.ConclusionsOur study demonstrated that meiotic segregation heterogeneity of trivalent structure is associated with the carrier’s gender and translocation type, and it is independent of carrier’s age. ICE phenomenon exists during meiosis and then increases the frequencies of additional chromosome abnormalities.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Meiotic Heterogeneity of Trivalent Structure and Interchromosomal Effect in Blastocysts With Robertsonian Translocations

Zhang

Chen

et al. 2021

Front. Genet.

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“…Lejeune () found that the offspring from the reciprocal translocation carriers in their study showed a significantly higher rate of Down syndrome, and postulated that chromosome abnormalities such as chromosomal translocations may also have influence on the segregation of chromosomes other than the affected chromosomes during meiosis. However, there have been FISH‐based studies targeting specific chromosomes, such as chr18, chr21, and sex chromosomes, either supporting or disagreeing with the existence of inter‐chromosomal effect (ICE) since then, which makes the ICE effect remain controversial (Shi & Martin, ; Anton et al., ; Douet‐Guilbert et al., ; Morel et al., 2005; Mahjoub et al., ). MALBAC‐NGS probes the copy number information on all 24 chromosomes, offering the most comprehensive information to study the controversial issue ICE.…”

Section: Discussionsupporting

confidence: 91%

Comprehensive Genome Profiling of Single Sperm Cells by Multiple Annealing and Looping-Based Amplification Cycles and Next-Generation Sequencing from Carriers of Robertsonian Translocation

Sha

et al. 2017

Annals of Human Genetics

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Robertsonian translocation (RT) is a common cause for male infertility, recurrent pregnancy loss, and birth defects. Studying meiotic recombination in RT-carrier patients helps decipher the mechanism and improve the clinical management of infertility and birth defects caused by RT. Here we present a new method to study spermatogenesis on a single-gamete basis from two RT carriers. By using a combined single-cell whole-genome amplification and sequencing protocol, we comprehensively profiled the chromosomal copy number of 88 single sperms from two RT-carrier patients. With the profiled information, chromosomal aberrations were identified on a whole-genome, per-sperm basis. We found that the previously reported interchromosomal effect might not exist with RT carriers. It is suggested that single-cell genome sequencing enables comprehensive chromosomal aneuploidy screening and provides a powerful tool for studying gamete generation from patients carrying chromosomal diseases.

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“…Inter-chromosomal effect remains controversial in the literature [ 29 ]. Some publications have indicated its relevance [ 12 , 13 ], while others showed no evidence of ICE in ROB translocation carriers [ 9 , 18 ]. Inter-chromosomal effect could be explained by the formation of heterosynapses between chromosomes involved in the translocation and the sex vesicle, which could also involve other chromosomes [ 11 , 29 ].…”

Section: Discussionmentioning

confidence: 99%

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from 13 robertsonian translocations

Wang

Nie

Tang

et al. 2017

Balkan Journal of Medical Genetics

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The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB translocation on chromosomes 18, X, and Y. Thirteen male patients were included in the study. Multicolor fluorescent in situ hybridization (FISH) was used to analyze chromosomes 13, 14, 15, 21, 22, 18, X and Y in sperm. Among the heterozygous ROB translocation carriers, the frequency of normal/balanced spermatozoa resulting from alternate segregation varied between 70.4 and 85.2%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 14.8 and 29.6%. Increased frequencies of aneuploidy for a sex chromosome were found in 10 ROB translocation carriers (P2-P8, P10-P12). Increased frequencies of aneuploidy for chromosome 18 were found in10 ROB translocation carriers (P3-P9, P11-P13). In addition, increased frequencies of diploid were found in 11 ROB translocation carriers (P2-P9, P11-P13). Among the homozygous ROB translocation carriers, the rate of balanced spermatozoa was 99.7% and the frequency of unbalanced spermatozoa was 0.3%. However, the frequencies of aneuploidy for a sex chromosome and chromosome 18 were normal. Despite the high number of normal/balanced frequencies, there remained many unbalanced spermatozoa resulting from alternate segregation. The ROB translocation carriers may be at an increased risk for ICE. Robertsonian translocation homozygosity could be seen as a potential speciation in humans with 44 chromosomes.

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Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14)

Cited by 19 publications

References 25 publications

Meiotic Heterogeneity of Trivalent Structure and Interchromosomal Effect in Blastocysts With Robertsonian Translocations

Meiotic Heterogeneity of Trivalent Structure and Interchromosomal Effect in Blastocysts With Robertsonian Translocations

Comprehensive Genome Profiling of Single Sperm Cells by Multiple Annealing and Looping-Based Amplification Cycles and Next-Generation Sequencing from Carriers of Robertsonian Translocation

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from 13 robertsonian translocations

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