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Maciej Kurpisz - One of the best experts on this subject based on the ideXlab platform.
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Chromosome re positioning in spermatozoa of fathers and sons carriers of Reciprocal Chromosome Translocation rct
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Non-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). Fluorescence 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. In 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. Nuclear 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).
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Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of Reciprocal Chromosome Translocation (RCT)
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Non-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). Fluorescence 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. In 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. Nuclear 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).
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Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of Reciprocal Chromosome Translocation (RCT)
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Background Non-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). Methods Fluorescence 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. Results In 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. Conclusions Nuclear 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).
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Chromatin structure analysis of spermatozoa from Reciprocal Chromosome Translocation (RCT) carriers with known meiotic segregation patterns.
Reproductive Biology, 2013Co-Authors: Marta Olszewska, Barbara Panasiuk, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Anna Czernikiewicz, Magdalena Boksa, Maciej KurpiszAbstract:The presence of Reciprocal Chromosome Translocations (RCTs), as well as sperm chromatin disturbances, is known to exert negative influence on male fertility. The aim of this study was to identify an association between Chromosome structural rearrangements in male RCT carriers and sperm seminological parameters (concentration, motility, morphology), chromatin status (fragmentation and maturity), meiotic segregation pattern and observed chromosomal hyperhaploidy. Sperm samples originated from ten male RCT carriers with reproductive failure/success. TUNEL assay (DNA fragmentation) and chromomycin A3 (CMA3)/aniline blue (AB) staining (chromatin maturity) were used to analyze sperm chromatin status while fluorescent in situ hybridization (FISH) was applied to observe meiotic segregation patterns and hyperhaploidy in spermatozoa. We found that the mean level of sperm DNA fragmentation in the RCT carrier group (18.0 ± 11.9%) was significantly higher (p=0.0006) than the mean of the control group (7.5 ± 4.3%). There was no correlation observed between sperm DNA fragmentation levels (5.6-38.0%) and the frequency of genetically normal/balanced gametes (34.3-62.4%), sperm seminological quality or revealed reproductive failure. In contrast, a correlation between the frequencies of genetically normal/balanced spermatozoa and of gametes with mature chromatin was observed (CMA3: R=0.4524, p=0.2604; AB: R=0.5238, p=0.1827). A statistically significant increase in the hyperhaploidy level of selected Chromosomes in all analyzed RCT carriers was documented but was not correlated to sperm seminology or fertility status. Further evaluation and additional assays toward sperm chromatin quality assessment in RCT carriers is suggested to explain the complexity of genomic structural rearrangements and its possible relevance to reproductive success or failure.
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risk evaluation of carriers with Chromosome Reciprocal Translocation t 7 13 q34 q13 and concomitant meiotic segregation analyzed by fish on ejaculated spermatozoa
American Journal of Medical Genetics Part A, 2006Co-Authors: Alina T. Midro, Barbara Panasiuk, Ryszard Leśniewicz, Ewa Wiland, Maciej KurpiszAbstract:We performed the segregation analysis of a relatively large pedigree of t(7;13)(q34;q13) carriers together with the sperm karyotype analysis of the one carrier using a tri-color fluorescence in situ hybridization (FISH) method. The risk assessments for unfavorable pregnancy outcomes in a series of 36 pregnancies in eight Reciprocal Chromosome Translocation (RCT) couples of carriers were estimated directly from a pedigree after ascertainment correction. The individual probability rate for unbalanced child was predicted according to Stengel-Rutkowski and co-workers. The unbalanced karyotypes in the form of monosomy 7q34 qter and trisomy 13q13 qter were detected among stillborn/early death newborns with holoprosencephaly (HPE), cyclopia and other malformations. Based on clinical description of unkaryotyped stillbirth progeny, it can be assumed that the phenotype distinctions were connected with the unbalanced karyotype from 2:2 segregation (monosomy 7q with trisomy 13q) and 3:1 segregation as interchange trisomy 13 (Patau syndrome). Probability rates for miscarriages, stillbirth/early death were 12.9 ± 6% (4/31) and 29 ± 8.2% (9/31), respectively. The results of the meiotic segregation pattern indicated the rate of unbalanced spermatozoa for about 60%, with the unusual high rate (29.4%) of 3:1 segregant (i.e., 13.4% of the tertiary segregation and 16% of the interchange segregation). Adjacent-1 segregation followed with 23.5% and adjacent-2 followed with 7.2% of analyzed spermatozoa. The high rate of unbalanced gametes in comparison to the number of stillborn/early death and miscarriages detected in pedigree suggests a strong selection against unbalanced chromosomal constitutions during fetal development. It corresponds to a very small probability rate (about 0.3%) of viable unbalanced progeny from 3:1 meiotic segregation predicted for maternal carriers. This knowledge can be used in genetic counseling of families with similar RCT ascertained in a different way. © 2006 Wiley-Liss, Inc.
Alina T. Midro - One of the best experts on this subject based on the ideXlab platform.
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Chromosome re positioning in spermatozoa of fathers and sons carriers of Reciprocal Chromosome Translocation rct
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Non-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). Fluorescence 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. In 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. Nuclear 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).
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Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of Reciprocal Chromosome Translocation (RCT)
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Non-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). Fluorescence 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. In 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. Nuclear 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).
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Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of Reciprocal Chromosome Translocation (RCT)
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Background Non-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). Methods Fluorescence 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. Results In 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. Conclusions Nuclear 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).
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Chromatin structure analysis of spermatozoa from Reciprocal Chromosome Translocation (RCT) carriers with known meiotic segregation patterns.
Reproductive Biology, 2013Co-Authors: Marta Olszewska, Barbara Panasiuk, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Anna Czernikiewicz, Magdalena Boksa, Maciej KurpiszAbstract:The presence of Reciprocal Chromosome Translocations (RCTs), as well as sperm chromatin disturbances, is known to exert negative influence on male fertility. The aim of this study was to identify an association between Chromosome structural rearrangements in male RCT carriers and sperm seminological parameters (concentration, motility, morphology), chromatin status (fragmentation and maturity), meiotic segregation pattern and observed chromosomal hyperhaploidy. Sperm samples originated from ten male RCT carriers with reproductive failure/success. TUNEL assay (DNA fragmentation) and chromomycin A3 (CMA3)/aniline blue (AB) staining (chromatin maturity) were used to analyze sperm chromatin status while fluorescent in situ hybridization (FISH) was applied to observe meiotic segregation patterns and hyperhaploidy in spermatozoa. We found that the mean level of sperm DNA fragmentation in the RCT carrier group (18.0 ± 11.9%) was significantly higher (p=0.0006) than the mean of the control group (7.5 ± 4.3%). There was no correlation observed between sperm DNA fragmentation levels (5.6-38.0%) and the frequency of genetically normal/balanced gametes (34.3-62.4%), sperm seminological quality or revealed reproductive failure. In contrast, a correlation between the frequencies of genetically normal/balanced spermatozoa and of gametes with mature chromatin was observed (CMA3: R=0.4524, p=0.2604; AB: R=0.5238, p=0.1827). A statistically significant increase in the hyperhaploidy level of selected Chromosomes in all analyzed RCT carriers was documented but was not correlated to sperm seminology or fertility status. Further evaluation and additional assays toward sperm chromatin quality assessment in RCT carriers is suggested to explain the complexity of genomic structural rearrangements and its possible relevance to reproductive success or failure.
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Risk estimation of different pregnancy outcomes in the families of carriers of Reciprocal chromosomal Translocations involving Chromosome 20
Polish Gynaecology, 2013Co-Authors: Beata Stasiewicz-jarocka, Barbara Panasiuk, Alina T. Midro, Milena Kozaczuk, Aleksander Jamsheer, Anna Latos-bielenskaAbstract:Carriership of Reciprocal Chromosome Translocation (RCT) in a family may be the reason for malformation at birth, stillbirth, early neonatal death, and miscarriage due to unbalanced karyotype (monosomy/trisomy). The size of Chromosome segments determined by the breakpoint position, kind of Chromosome involved and the carrier’s gender may influence the probability rate for each category of the unfavorable pregnancy outcome in the family of the carrier of a particular RCT. Until now, the literature lacks reports on the risk values for particular forms of pregnancy outcomes in case of single segment imbalance, both the short (p) and the long arm (q) of Chromosome 20. Objective: The aim of the study was to evaluate individual risk rates for unbalanced offspring at birth for single segment imbalance in the form of trisomy/monosomy and a separate evaluation risk figures for different pregnancy outcomes, depending on the size of the involved Chromosome segment, its origin and carrier gender in families of RCT carriers involving Chromosome 20 (RCT-20). In addition, practical application of the obtained results in the family with unique RCT t(13;20)(q14.1;p11.21) carriership has been shown. Material and methods: Total empirical data of 50 families (219 pregnancies) were collected from 19 pedigrees of RCT-20 carriers coming from different collections of RCT and available references. Cytogenetic studies were performed by GTG technique. The probability rates of particular type of pathology related to the total number of pregnancies after ascertainment correction have been done by segregation analysis according to the method of Stengel-Rutkowski and Stene. Results: The probability rate for unbalanced offspring at birth for carriers of RCT-20p was calculated as 5.5±1.8% (9/164) (medium risk). Considering parental gender of the carrier for maternal (MAT) and paternal (PAT) carriers, the probability rate values were similar i.e. 4.8±2.3% (4/84) and 4.9±2.8% (3/61), respectively. The risk figures for stillbirth/ early neonatal deaths were found as 0.6±0.6% (1/164) (low risk), but separately for MAT and PAT carriers they were: 1.2±1.2% (1/84) and
Ewa Wiland - One of the best experts on this subject based on the ideXlab platform.
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Chromosome re positioning in spermatozoa of fathers and sons carriers of Reciprocal Chromosome Translocation rct
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Non-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). Fluorescence 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. In 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. Nuclear 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).
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Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of Reciprocal Chromosome Translocation (RCT)
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Non-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). Fluorescence 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. In 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. Nuclear 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).
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Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of Reciprocal Chromosome Translocation (RCT)
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Background Non-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). Methods Fluorescence 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. Results In 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. Conclusions Nuclear 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).
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Chromatin structure analysis of spermatozoa from Reciprocal Chromosome Translocation (RCT) carriers with known meiotic segregation patterns.
Reproductive Biology, 2013Co-Authors: Marta Olszewska, Barbara Panasiuk, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Anna Czernikiewicz, Magdalena Boksa, Maciej KurpiszAbstract:The presence of Reciprocal Chromosome Translocations (RCTs), as well as sperm chromatin disturbances, is known to exert negative influence on male fertility. The aim of this study was to identify an association between Chromosome structural rearrangements in male RCT carriers and sperm seminological parameters (concentration, motility, morphology), chromatin status (fragmentation and maturity), meiotic segregation pattern and observed chromosomal hyperhaploidy. Sperm samples originated from ten male RCT carriers with reproductive failure/success. TUNEL assay (DNA fragmentation) and chromomycin A3 (CMA3)/aniline blue (AB) staining (chromatin maturity) were used to analyze sperm chromatin status while fluorescent in situ hybridization (FISH) was applied to observe meiotic segregation patterns and hyperhaploidy in spermatozoa. We found that the mean level of sperm DNA fragmentation in the RCT carrier group (18.0 ± 11.9%) was significantly higher (p=0.0006) than the mean of the control group (7.5 ± 4.3%). There was no correlation observed between sperm DNA fragmentation levels (5.6-38.0%) and the frequency of genetically normal/balanced gametes (34.3-62.4%), sperm seminological quality or revealed reproductive failure. In contrast, a correlation between the frequencies of genetically normal/balanced spermatozoa and of gametes with mature chromatin was observed (CMA3: R=0.4524, p=0.2604; AB: R=0.5238, p=0.1827). A statistically significant increase in the hyperhaploidy level of selected Chromosomes in all analyzed RCT carriers was documented but was not correlated to sperm seminology or fertility status. Further evaluation and additional assays toward sperm chromatin quality assessment in RCT carriers is suggested to explain the complexity of genomic structural rearrangements and its possible relevance to reproductive success or failure.
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risk evaluation of carriers with Chromosome Reciprocal Translocation t 7 13 q34 q13 and concomitant meiotic segregation analyzed by fish on ejaculated spermatozoa
American Journal of Medical Genetics Part A, 2006Co-Authors: Alina T. Midro, Barbara Panasiuk, Ryszard Leśniewicz, Ewa Wiland, Maciej KurpiszAbstract:We performed the segregation analysis of a relatively large pedigree of t(7;13)(q34;q13) carriers together with the sperm karyotype analysis of the one carrier using a tri-color fluorescence in situ hybridization (FISH) method. The risk assessments for unfavorable pregnancy outcomes in a series of 36 pregnancies in eight Reciprocal Chromosome Translocation (RCT) couples of carriers were estimated directly from a pedigree after ascertainment correction. The individual probability rate for unbalanced child was predicted according to Stengel-Rutkowski and co-workers. The unbalanced karyotypes in the form of monosomy 7q34 qter and trisomy 13q13 qter were detected among stillborn/early death newborns with holoprosencephaly (HPE), cyclopia and other malformations. Based on clinical description of unkaryotyped stillbirth progeny, it can be assumed that the phenotype distinctions were connected with the unbalanced karyotype from 2:2 segregation (monosomy 7q with trisomy 13q) and 3:1 segregation as interchange trisomy 13 (Patau syndrome). Probability rates for miscarriages, stillbirth/early death were 12.9 ± 6% (4/31) and 29 ± 8.2% (9/31), respectively. The results of the meiotic segregation pattern indicated the rate of unbalanced spermatozoa for about 60%, with the unusual high rate (29.4%) of 3:1 segregant (i.e., 13.4% of the tertiary segregation and 16% of the interchange segregation). Adjacent-1 segregation followed with 23.5% and adjacent-2 followed with 7.2% of analyzed spermatozoa. The high rate of unbalanced gametes in comparison to the number of stillborn/early death and miscarriages detected in pedigree suggests a strong selection against unbalanced chromosomal constitutions during fetal development. It corresponds to a very small probability rate (about 0.3%) of viable unbalanced progeny from 3:1 meiotic segregation predicted for maternal carriers. This knowledge can be used in genetic counseling of families with similar RCT ascertained in a different way. © 2006 Wiley-Liss, Inc.
John B. Hays - One of the best experts on this subject based on the ideXlab platform.
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Reciprocal Chromosome Translocation associated with TDNA-insertion mutation in Arabidopsis: genetic and cytological analyses of consequences for gametophyte development and for construction of doubly mutant lines
Planta, 2009Co-Authors: Marc J. Curtis, Stephanie R. Bollmann, Colin M. Tominey, Raphael Mercier, Peter D. Hoffman, Katia Belcram, John B. HaysAbstract:Chromosomal rearrangements may complicate construction of Arabidopsis with multiple TDNA-insertion mutations. Here, crossing two lines homozygous for insertions in AtREV3 and AtPOLH (Chromosomes I and V, respectively) and selfing F1 plants yielded non-Mendelian F2 genotype distributions: frequencies of + / ++ / + and 1/1 2/2 progeny were only 0.42 and 0.25%. However, the normal development and fertility of double mutants showed AtPOLH-1 and AtREV3-2 gametes and 1/1 2/2 embryos to be fully viable. F2 distributions could be quantitatively predicted by assuming that F1 selfing produced inviable ( 1,2 ) and (+ , +) gametophytes 86% of the time. Some defect intrinsic to the F1 selfing process itself thus appeared responsible. In selfing AtREV3 ^+ /2 single mutants, imaging of ovules and pollen showed arrest or abortion, respectively, of half of gametophytes; however, gametogenesis was normal in AtREV3 ^ 2/2 homozygotes. These findings, taken together, suggested that T-DNA insertion at AtREV3 on Chromosome I had caused a Reciprocal I–V Translocation. Spreads of meiosis I Chromosomes in selfing AtREV3 ^+ /2 heterozygotes revealed the predicted cruciform four-Chromosome structures, which fluorescence in situ hybridization showed to invariably include both translocated and normal Chromosomes I and V. Sequencing of the two junctions of T-DNA with AtREV3 DNA and the two with gene At5g59920 suggested Translocation via homologous recombination between independent inverted-repeat T-DNA insertions. Thus, when crosses between TDNA-insertion mutants yield anomalous progeny distributions, TDNA-linked Translocations should be considered.
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Reciprocal Chromosome Translocation associated with TDNA-insertion mutation in Arabidopsis: genetic and cytological analyses of consequences for gametophyte development and for construction of doubly mutant lines
Planta, 2009Co-Authors: Marc J. Curtis, Stephanie R. Bollmann, Colin M. Tominey, Raphael Mercier, Peter D. Hoffman, Katia Belcram, John B. HaysAbstract:Chromosomal rearrangements may complicate construction of Arabidopsis with multiple TDNA-insertion mutations. Here, crossing two lines homozygous for insertions in AtREV3 and AtPOLH (Chromosomes I and V, respectively) and selfing F1 plants yielded non-Mendelian F2 genotype distributions: frequencies of + / ++ / + and 1/1 2/2 progeny were only 0.42 and 0.25%. However, the normal development and fertility of double mutants showed AtPOLH-1 and AtREV3-2 gametes and 1/1 2/2 embryos to be fully viable. F2 distributions could be quantitatively predicted by assuming that F1 selfing produced inviable ( 1,2 ) and (+ , +) gametophytes 86% of the time. Some defect intrinsic to the F1 selfing process itself thus appeared responsible. In selfing AtREV3 ^+ /2 single mutants, imaging of ovules and pollen showed arrest or abortion, respectively, of half of gametophytes; however, gametogenesis was normal in AtREV3 ^ 2/2 homozygotes. These findings, taken together, suggested that T-DNA insertion at AtREV3 on Chromosome I had caused a Reciprocal I–V Translocation. Spreads of meiosis I Chromosomes in selfing AtREV3 ^+ /2 heterozygotes revealed the predicted cruciform four-Chromosome structures, which fluorescence in situ hybridization showed to invariably include both translocated and normal Chromosomes I and V. Sequencing of the two junctions of T-DNA with AtREV3 DNA and the two with gene At5g59920 suggested Translocation via homologous recombination between independent inverted-repeat T-DNA insertions. Thus, when crosses between TDNA-insertion mutants yield anomalous progeny distributions, TDNA-linked Translocations should be considered.
Marta Olszewska - One of the best experts on this subject based on the ideXlab platform.
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Chromosome re positioning in spermatozoa of fathers and sons carriers of Reciprocal Chromosome Translocation rct
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Non-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). Fluorescence 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. In 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. Nuclear 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).
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Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of Reciprocal Chromosome Translocation (RCT)
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Non-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). Fluorescence 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. In 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. Nuclear 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).
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Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of Reciprocal Chromosome Translocation (RCT)
BMC Medical Genomics, 2019Co-Authors: Marta Olszewska, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Maciej KurpiszAbstract:Background Non-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). Methods Fluorescence 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. Results In 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. Conclusions Nuclear 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).
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Chromatin structure analysis of spermatozoa from Reciprocal Chromosome Translocation (RCT) carriers with known meiotic segregation patterns.
Reproductive Biology, 2013Co-Authors: Marta Olszewska, Barbara Panasiuk, Alina T. Midro, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Danuta Zastavna, Anna Czernikiewicz, Magdalena Boksa, Maciej KurpiszAbstract:The presence of Reciprocal Chromosome Translocations (RCTs), as well as sperm chromatin disturbances, is known to exert negative influence on male fertility. The aim of this study was to identify an association between Chromosome structural rearrangements in male RCT carriers and sperm seminological parameters (concentration, motility, morphology), chromatin status (fragmentation and maturity), meiotic segregation pattern and observed chromosomal hyperhaploidy. Sperm samples originated from ten male RCT carriers with reproductive failure/success. TUNEL assay (DNA fragmentation) and chromomycin A3 (CMA3)/aniline blue (AB) staining (chromatin maturity) were used to analyze sperm chromatin status while fluorescent in situ hybridization (FISH) was applied to observe meiotic segregation patterns and hyperhaploidy in spermatozoa. We found that the mean level of sperm DNA fragmentation in the RCT carrier group (18.0 ± 11.9%) was significantly higher (p=0.0006) than the mean of the control group (7.5 ± 4.3%). There was no correlation observed between sperm DNA fragmentation levels (5.6-38.0%) and the frequency of genetically normal/balanced gametes (34.3-62.4%), sperm seminological quality or revealed reproductive failure. In contrast, a correlation between the frequencies of genetically normal/balanced spermatozoa and of gametes with mature chromatin was observed (CMA3: R=0.4524, p=0.2604; AB: R=0.5238, p=0.1827). A statistically significant increase in the hyperhaploidy level of selected Chromosomes in all analyzed RCT carriers was documented but was not correlated to sperm seminology or fertility status. Further evaluation and additional assays toward sperm chromatin quality assessment in RCT carriers is suggested to explain the complexity of genomic structural rearrangements and its possible relevance to reproductive success or failure.