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

Wiland, Ewa; Olszewska, Marta; Woźniak, Tomasz; Kurpisz, Maciej

doi:10.1007/s00018-020-03560-5

Cited by 10 publications

(17 citation statements)

References 173 publications

(207 reference statements)

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“…The proportion of meiotic products from adjacent segregation modes in RT carriers analyzed in this study is consistent with reports for domestic species such as bulls, boars and mice (2.58–5.42%, 3.16%, and 8–11.5%, respectively) [ 64 , 65 , 66 , 67 ]. These findings may suggest a low negative effect on the reproductive fitness of heterozygous carriers of RT reported here for MAM, unlike that reported for several RT in humans where there is a wide variation in reproductive impact (0.2–49.1% of adjacent segregation products) [ 68 ].…”

Section: Discussioncontrasting

confidence: 80%

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Chromosomal Polymorphism and Speciation: The Case of the Genus Mazama (Cetartiodactyla; Cervidae)

Galindo

Martins

Vozdová

et al. 2021

Genes

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Chromosomal polymorphism plays a major role in speciation processes in mammals with high rates of karyotypic evolution, as observed in the family Cervidae. One remarkable example is the genus Mazama that comprises wide inter- and intra-specific chromosomal variability. To evaluate the impact of chromosomal polymorphisms as reproductive barriers within the genus Mazama, inter-specific hybrids between Mazama gouazoubira and Mazama nemorivaga (MGO × MNE) and intra-specific hybrids between cytotypes of Mazama americana (MAM) differing by a tandem (TF) or centric fusion (Robertsonian translocations—RT) were evaluated. MGO × MNE hybrid fertility was evaluated by the seminal quality and testicular histology. MAM hybrids estimation of the meiotic segregation products was performed by sperm-FISH analysis. MGO × MNE hybrids analyses showed different degrees of fertility reduction, from severe subfertility to complete sterility. Regarding MAM, RT, and TF carriers showed a mean value for alternate segregation rate of 97.74%, and 67.23%, and adjacent segregation rate of 1.80%, and 29.07%, respectively. Our results suggested an efficient post-zygotic barrier represented by severe fertility reduction for MGO × MNE and MAM with heterozygous TF. Nevertheless, RT did not show a severe effect on the reproductive fitness in MAM. Our data support the validity of MGO and MNE as different species and reveals cryptic species within MAM.

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Section: Discussioncontrasting

confidence: 80%

“…Errors in meiosis are the result of the behavior of those chromosomes involved in the translocation and their trivalent during the first meiotic segregation. [ 40 , 68 ].…”

Section: Discussionmentioning

confidence: 99%

Chromosomal Polymorphism and Speciation: The Case of the Genus Mazama (Cetartiodactyla; Cervidae)

Galindo

Martins

Vozdová

et al. 2021

Genes

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“…Furthermore, sperm-FISH studies revealed that different translocation types displayed different proportion of alternate segregation, ranging from 76 to 89%. Besides, the sperm aneuploidy that was not involved in a particular translocation exhibited an increased frequency, which might increase the probability of chromosomal abnormalities in embryos ( Hajlaoui et al, 2018 ; Wiland et al, 2020 ). On the contrary, Huang et al (2010) found that genders of the carriers and translocation type have no effect on the meiotic segregation of the trivalent structure.…”

Section: Discussionmentioning

confidence: 99%

“… Hajlaoui et al (2018) reported that ICE was observed by sperm FISH studies and contributed to higher rates of abnormal prenatal aneuploidy in sperm, then increasing the probability of chromosomal numerical abnormalities in embryos. Wiland et al (2020) found most infertile Robertsonian carriers exhibited an increased frequency of aneuploidy that was not involved in a particular translocation in sperm and might result in the abnormal development of embryos. In addition, Gianaroli et al (2002) obtained similar results by analyzing day 3 embryos of Robertsonian translocation carriers with FISH technology.…”

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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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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“…These processes can produce highly variable and unique breakpoints. Class 2 RTs might also occur due to telomere stress caused by the knockdown of telomere-binding protein TRF2 that coat telomeres on the p-arm and lead to chromatin decondensation, RNA polymerase I-mediated rDNA transcription, and chromothripsis, characterized by clustered genomic rearrangements of the involved chromosomes [5,7].…”

Section: Introductionmentioning

confidence: 99%

Application of the FISH Method for Analyzing Chromosome Segregation Patterns in Preimplantation Embryos from Robertsonian Translocation Carriers

Puppo¹,

Tonyan²,

Panina³

et al. 2022

OBM Genet

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Robertsonian translocations (RTs) are very common balanced structural chromosome rearrangements in humans. Due to alterations in the chromosome segregation pattern and the formation of unbalanced gametes and embryos, the carriers of RTs have a significant risk of reproductive failure. For over 30 years, fluorescent in situ hybridization (FISH) has been used for preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) in carriers of RTs. The data obtained by performing FISH for PGT-SR can be useful for analyzing segregation patterns in preimplantation embryos. We analyzed chromosome segregation patterns in 964 embryos from 100 couples who were carriers of various types of RTs by performing FISH or using the array comparative genomic hybridization (aCGH) method. When the carriers were male, the predominant segregation mode was alternate (detected in 42.4% of embryos), whereas, when the carriers were female, alternate and adjacent types of segregation were detected in most embryos (32.3% and 26.6% of embryos, respectively). About 33% of balanced/euploid embryos in IVF cycles were formed when the carriers of RT were male, and about 24% of such embryos were formed when the carriers were female. No association was found between sperm parameters and malsegregation rates in male carriers of RT. In this study, we found that female and male RT carriers have different reproductive risks associated with chromosome segregation patterns and the rate of balanced/euploid embryos.

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

Cited by 10 publications

References 173 publications

Chromosomal Polymorphism and Speciation: The Case of the Genus Mazama (Cetartiodactyla; Cervidae)

Chromosomal Polymorphism and Speciation: The Case of the Genus Mazama (Cetartiodactyla; Cervidae)

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

Application of the FISH Method for Analyzing Chromosome Segregation Patterns in Preimplantation Embryos from Robertsonian Translocation Carriers

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