Analysis of Meiotic Segregation Pattern and Interchromosomal Effects in a Bull Heterozygous for a 3/16 Robertsonian Translocation

2018 ◽  
Vol 156 (4) ◽  
pp. 197-203 ◽  
Author(s):  
Harmonie Barasc ◽  
Nathalie Mouney-Bonnet ◽  
Clémence Peigney ◽  
Anne Calgaro ◽  
Clémence Revel ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Chromosomal Rearrangements ◽  
Segregation Pattern ◽  
Fish Analysis ◽  
Meiotic Segregation ◽  
Robertsonian Translocations ◽  
Sperm Nuclei ◽  
Meiotic Segregation Pattern ◽  
First Time ◽  
Low Rate

Robertsonian translocations are the most frequent chromosomal rearrangements detected in cattle. Here, we report on the detection of a new Robertsonian translocation between chromosomes BTA3 and BTA16. This rob(3;16) was dicentric, suggesting that its occurrence was recent. FISH analysis of decondensed sperm nuclei revealed a relatively low rate of unbalanced gametes produced by adjacent segregation (5.87%). In addition, and for the first time in bovines, a significant interchromosomal effect (ICE) was detected for 2 different autosomes: BTA17 (global disomy + nullisomy rate of 9%) and BTA20 (1.8%). These results suggest that ICE should be taken into consideration when assessing the putative effect of Robertsonian translocations on reproduction.

scholarly journals FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (Pan troglodytes)

2021 ◽  
Vol 22 (19) ◽  
pp. 10383
Author(s):  
Charlotte Guyot ◽  
Marlène Gandula ◽  
Wendy Noordermeer ◽  
Céline François-Brazier ◽  
Rosemary Moigno ◽  
...  
Keyword(s):  
Pan Troglodytes ◽  
Dna Sequences ◽  
Pregnancy Loss ◽  
Farm Animals ◽  
Fish Analysis ◽  
Sperm Aneuploidy ◽  
Sperm Fish ◽  
Sperm Nuclei ◽  
First Time ◽  
Human Primate

Numerical chromosomal aberrations in sperm are considered to be a major factor in infertility, early pregnancy loss and syndromes with developmental and cognitive disabilities in mammals, including primates. Despite numerous studies in human and farm animals, the incidence and importance of sperm aneuploidies in non-human primate remains mostly undetermined. Here we investigated the incidence and distribution of sperm aneuploidy in chimpanzees (Pan troglodytes), the species closest to human. We identify evolutionary conserved DNA sequences in human and chimpanzee and selected homologous sub-telomeric regions for all chromosomes to build custom probes and perform sperm-FISH analysis on more than 10,000 sperm nuclei per chromosome. Chimpanzee mean autosomal disomy rate was 0.057 ± 0.02%, gonosomes disomy rate was 0.198% and the total disomy rate was 1.497%. The proportion of X or Y gametes was respectively 49.94% and 50.06% for a ratio of 1.002 and diploidy rate was 0.053%. Our data provide for the first time an overview of aneuploidy in non-human primate sperm and shed new insights into the issues of aneuploidy origins and mechanisms.

scholarly journals Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple

2017 ◽  
Vol 8 (1) ◽  
pp. 36-40
Keyword(s):  
Spontaneous Abortion ◽  
Robertsonian Translocation ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Genetic Evaluation ◽  
Fish Analysis ◽  
Translocation Carrier ◽  
Laboratory Manual ◽  
Reproductive Risk ◽  
Normal Offspring

ABSTRACT Purpose Spontaneous abortion has been reported in 15 to 20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation (RT) is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. Robertsonian translocation carriers, especially 21-14, are the most common balanced rearrangement among the carrier couples with a history of spontaneous abortion. Materials and methods Cytogenetic analysis was carried out based on phytohemagglutinin-stimulated peripheral blood lymphocyte cultures and without phytohemagglutinin-stimulated amniocyte culture. Lymphocyte and amniocyte culturing and GTG banding were performed following standard protocols as described by the Association of genetic technologists (AGT) Cytogenetics Laboratory Manual. Results Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down's syndrome and the mother was a carrier of balanced RT of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus was done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix found normal chromosomal constituent in the fetus. Conclusion The present study shows that genetic counseling, cytogenetic evaluation, prenatal diagnosis by amniocentesis, and FISH together help couples with nonhomologous RT and history with syndromic child and repeated abortions to get normal offspring. How to cite this article De P, Chakravarty S, Chakravarty A. Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple. Int J Infertil Fetal Med 2017;8(1):36-40.

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

2021 ◽  
Vol 12 ◽  
Author(s):  
Shuo Zhang ◽  
Caixia Lei ◽  
Junping Wu ◽  
Jing Zhou ◽  
Min Xiao ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Segregation Pattern ◽  
Inherited Disorders ◽  
Preimplantation Genetic Testing ◽  
Robertsonian Translocations ◽  
Reproductive Risk ◽  
Interchromosomal Effect ◽  
Additional Chromosome ◽  
Stratified Analysis ◽  
Mosaic Aneuploidy

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.

scholarly journals Invasive Pre- and Postnatal Genetic Evaluation reduces the Reproductive Risk in the Era of Noninvasive or Minimally Invasive Prenatal Screening Method

2017 ◽  
Vol 1 (1) ◽  
pp. 35-39
Author(s):  
Amit Chakravarty ◽  
Puspal De ◽  
Sudipa Chakravarty
Keyword(s):  
Minimally Invasive ◽  
Spontaneous Abortion ◽  
Robertsonian Translocation ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Screening Method ◽  
Genetic Evaluation ◽  
Fish Analysis ◽  
Reproductive Risk

ABSTRACT Introduction Spontaneous abortion has been reported in 15 to 20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. Robertsonian translocation carriers especially 21,14 are the most common balanced rearrangements among the carrier couples with a history of spontaneous abortion. Materials and methods Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down’s syndrome and the mother was carrier of balanced Robertsonian translocation of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus were done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix. Conclusion The present case study shows that genetic counseling, cytogenetic evaluation, prenatal diagnosis by amniocentesis, and FISH together help couples with nonhomologous RT and history with syndromic child and repeated abortions to get normal offspring. How to cite this article De P, Chakravarty S, Chakravarty A. Invasive Pre- and Postnatal Genetic Evaluation reduces the Reproductive Risk in the Era of Noninvasive or Minimally Invasive Prenatal Screening Method. Int J Gynecol Endsc 2017;1(1):35-39.

scholarly journals Comparative FISH analysis of Senna tora tandem repeats revealed insights into the chromosome dynamics in Senna

2021 ◽  
Vol 43 (3) ◽  
pp. 237-249 ◽  
Author(s):  
Thanh Dat Ta ◽  
Nomar Espinosa Waminal ◽  
Thi Hong Nguyen ◽  
Remnyl Joyce Pellerin ◽  
Hyun Hee Kim
Keyword(s):  
Tandem Repeats ◽  
Chromosomal Rearrangements ◽  
Organizer Region ◽  
Nucleolar Organizer Region ◽  
Nucleolar Organizer ◽  
Pericentromeric Region ◽  
Its2 Sequence ◽  
Fish Analysis ◽  
Chromosomal Distribution ◽  
Chromosome Dynamics

Abstract Background DNA tandem repeats (TRs) are often abundant and occupy discrete regions in eukaryotic genomes. These TRs often cause or generate chromosomal rearrangements, which, in turn, drive chromosome evolution and speciation. Tracing the chromosomal distribution of TRs could therefore provide insights into the chromosome dynamics and speciation among closely related taxa. The basic chromosome number in the genus Senna is 2n = 28, but dysploid species like Senna tora have also been observed. Objective To understand the dynamics of these TRs and their impact on S. tora dysploidization. Methods We performed a comparative fluorescence in situ hybridization (FISH) analysis among nine closely related Senna species and compared the chromosomal distribution of these repeats from a cytotaxonomic perspective by using the ITS1-5.8S-ITS2 sequence to infer phylogenetic relationships. Results Of the nine S. tora TRs, two did not show any FISH signal whereas seven TRs showed similar and contrasting patterns to other Senna species. StoTR01_86, which was localized in the pericentromeric regions in all S. tora, but not at the nucleolar organizer region (NOR) site, was colocalized at the NOR site in all species except in S. siamea. StoTR02_7_tel was mostly localized at chromosome termini, but some species had an interstitial telomeric repeat in a few chromosomes. StoTR05_180 was distributed in the subtelomeric region in most species and was highly amplified in the pericentromeric region in some species. StoTR06_159 was either absent or colocalized in the NOR site in some species, and StoIGS_463, which was localized at the NOR site in S. tora, was either absent or localized at the subtelomeric or pericentromeric regions in other species. Conclusions These data suggest that TRs play important roles in S. tora dysploidy and suggest the involvement of 45S rDNA intergenic spacers in “carrying” repeats during genome reshuffling.

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