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6. Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination

Author

Robinson, W. P., Kuchinka, B. D., Bernasconi, F., Petersen, M. B., Schulze, A., Brøndum-Nielsen, K., Christian, S. L., Ledbetter, D. H., Schinzel, A. A., Horsthemke, B., Schuffenhauer, S., Michaelis, R. C., Langlois, S., Hassold, T. J., Robinson, W. P., Kuchinka, B. D., Bernasconi, F., Petersen, M. B., Schulze, A., Brøndum-Nielsen, K., Christian, S. L., Ledbetter, D. H., Schinzel, A. A., Horsthemke, B., Schuffenhauer, S., Michaelis, R. C., Langlois, S., and Hassold, T. J.

Abstract

Non-disjoined chromosomes 15 from 115 cases of uniparental disomy (ascertained through Prader-Willi syndrome) and 13 cases of trisomy of maternal origin were densely typed for microsatellite loci spanning chromosome 15q. Of these 128 cases a total of 97 meiosis I (MI) errors, 19 meiosis II (MII) errors and 12 mitotic errors were identified. The genetic length of a map created from the MI errors was 101 cM, as compared with a maternal length of 137 cM based on CEPH controls. No significant differences were detected in the distribution of recombination events along the chromosome arm and a reduction was seen for most of the chromosome 15 intervals examined. It was estimated that 21% of tetrads leading to MI non-disjunction were achiasmate, which may account for most or all of the reduction in recombination noted. The mean age of mothers of cases involving MI errors which showed no transitions from heterodisomy to isodisomy was significantly lower (32.7) than cases showing one or more observable transitions (36.3) (P < 0.003, t-test). However, even among chiasmate pairs the highest mean maternal age was seen for multiple exchange tetrads. Chromosome-specific differences in maternal age effects may be related to the normal distribution of exchanges (and their individual susceptibilities) for each chromosome. However, they may also reflect the presence of multiple factors which act to ensure normal segregation, each affected by maternal age in a different way and varying in importance for each chromosome

Published
2017

12. Chromosomal abnormalities in embryos from couples with a previous aneuploid miscarriage

Author

Al-Asmar N, Peinado V, Vera M, Remohí J, Pellicer A, Simón C, Hassold T, and Rubio C

Subjects
lipids (amino acids, peptides, and proteins)
Abstract

To compare the incidence of chromosomal abnormalities in preimplantation embryos from couples undergoing preimplantation genetic screening (PGS) after previous aneuploid miscarriage after either natural conception (NC) or assisted reproductive technology (ART) versus fertile couples who underwent PGS for sex-linked diseases as a control group.

Published
2012

14. Andrology (Male Fertility, Spermatogenesis)

Author

Matsumoto, Y., primary, Goto, S., additional, Hashimoto, H., additional, Kokeguchi, S., additional, Shiotani, M., additional, Okada, H., additional, Cohen - Bacrie, P., additional, Hazout, A., additional, Belloc, S., additional, De Mouzon, J., additional, Menezo, Y., additional, Dumont, M., additional, Junca, A. M., additional, Cohen-Bacrie, M., additional, Alvarez, S., additional, Olivennes, F., additional, Prisant, N., additional, Weltin, M., additional, Geissler, W., additional, Clussmann, C., additional, Strowitzki, T., additional, Eggert-Kruse, W., additional, Endou, Y., additional, Fjii, Y., additional, Motoyama, H., additional, Quintana, F. Q., additional, Zaloa Larreategui, Z. L., additional, Iratxe Penalba, I. P., additional, Sara Ortega, S. O., additional, Monica Martin, M. M., additional, Guillermo Quea, G. Q., additional, Jose Serna, J. S., additional, Showell, M. G., additional, Brown, J., additional, Yazdani, A., additional, Stankiewicz, M. T., additional, Hart, R. J., additional, Zumoffen, C., additional, Munuce, M. J., additional, Caille, A., additional, Ghersevich, S., additional, Lendinez, A. M., additional, Perez-Nevot, B., additional, Palomares, A. R., additional, Serrano Garballo, A., additional, Rodriguez, A., additional, Reche, A., additional, Mayor-Olea, A., additional, Ruiz-Galdon, M., additional, Reyes-Engel, A., additional, Mendiola, J., additional, Jorgensen, N., additional, Andersson, A. M., additional, Calafat, A. M., additional, Redmon, J. B., additional, Drobnis, E. Z., additional, Wang, C., additional, Sparks, A., additional, Thurston, S. W., additional, Liu, F., additional, Swan, S. H., additional, Tarasconi, A. C., additional, Tarasconi, B. V., additional, Tarasconi, D. V., additional, Silva, E. M. V., additional, Fujii, Y., additional, Crha, I., additional, Pribyl, J., additional, Skladal, P., additional, Zakova, J., additional, Ventruba, P., additional, Pohanka, M., additional, De La Fuente, G., additional, Pacheco, A., additional, Velasco, J. A. G., additional, Requena, A., additional, Pacheco Castro, A., additional, San Celestino Carchenilla, M., additional, Salvanes, R., additional, Arnanz, A., additional, Balmori, C., additional, Pellicer, A., additional, Garcia-Velasco, J. A., additional, Ishikawa, T., additional, Fujisawa, M., additional, Kranz, S., additional, Hersemeyer, K., additional, Hentrich, A., additional, Tinneberg, H. R., additional, Konrad, L., additional, Simon, L., additional, Lutton, D., additional, McManus, J., additional, Lewis, S. E. M., additional, Rubio, S., additional, Simon Sanjurjo, P., additional, Lewis, S., additional, Buzzi, J., additional, Valcarcel, A., additional, Lombardi, E., additional, Oses, R., additional, Rawe, V., additional, Young, E., additional, Magendzo, A., additional, Lizama, S., additional, Duque, G., additional, Mackenna, A., additional, Monqaut, A., additional, Zavaleta, C., additional, Lopez, G., additional, Lafuente, R., additional, Brassesco, M., additional, Condorelli, R., additional, La Vignera, S., additional, La Rosa, S., additional, Barone, N., additional, Vicari, E., additional, Bellanca, S., additional, D'Agata, R., additional, Calogero, A. E., additional, Enciso, M., additional, Iglesias, M., additional, Galan, I., additional, Gosalvez, A., additional, Gosalvez, J., additional, Curaba, M., additional, Poels, J., additional, Van Langendonckt, A., additional, Donnez, J., additional, Wyns, C., additional, Garcez, M., additional, Salvador, M., additional, Pasqualotto, E. B., additional, Braga, D. P. A. F., additional, Borges, E., additional, Pasqualotto, F. F., additional, Aoki, T., additional, Figueira, R. C. S., additional, Maldonado, L. G. L., additional, Iaconelli, A., additional, Frassini, R., additional, Mandelli, J., additional, Setti, A. S., additional, Cortezzi, S. S., additional, Di Mauro, M., additional, Burrello, N., additional, Kashir, J., additional, Jones, C., additional, Young, C., additional, Ruas, M., additional, Grasa, P., additional, Rietdorf, K., additional, Heytens, E., additional, Heindryckx, B., additional, Yoon, S. Y., additional, Fissore, R. A., additional, Deane, C. M., additional, Nikiforaki, D., additional, Tee, S. T., additional, de Sutter, P., additional, Parrington, J., additional, Coward, K., additional, Visser, L., additional, Westerveld, G. H., additional, van Daalen, S. K. M., additional, van der Veen, F., additional, Lombardi, M. P., additional, Repping, S., additional, Cubillos, S., additional, Sanchez, S., additional, Pedraza, J., additional, Charria, G., additional, Aparicio, H., additional, Gongora, A., additional, Caldino, F., additional, Cuneo, S., additional, Ou, J. P., additional, Zhao, W. E., additional, Liu, Y. F., additional, Xu, Y. W., additional, Zhou, C. Q., additional, Al-Asmar Pinar, N., additional, Peinado, V., additional, Gruhn, J., additional, Susiarjo, M., additional, Gil-Salom, M., additional, Martinez-Jabaloyas, J. M., additional, Remohi, J., additional, Rubio, C., additional, Hassold, T., additional, Al-Asmar, N., additional, Rodrigo, L., additional, Hassold, T. J., additional, Bungum, M., additional, Forsell, N., additional, Giwercman, A., additional, Amiri, I., additional, Sheikh, N., additional, Najafi, R., additional, Godarzi, M., additional, Farimani, M., additional, Makukh, H., additional, Tyrkus, M., additional, Zastavna, D., additional, Nakonechnuy, A., additional, Khayat, S. S., additional, Schileiko, L. V., additional, Kurilo, L. F., additional, Garcia-Herrero, S., additional, Garrido, N., additional, Martinez-Conejero, J. A., additional, Romany, L., additional, Meseguer, M., additional, Dorphin, B., additional, Lefevre, M., additional, Gout, C., additional, Oger, P., additional, Yazbeck, C., additional, Rougier, N., additional, De Stefani, S., additional, Scala, V., additional, Benedetti, S., additional, Tagliamonte, M. C., additional, Zavagnini, E., additional, Palini, S., additional, Bulletti, C., additional, Canestrari, F., additional, Subiran, N., additional, Pinto, F. M., additional, Candenas, M. L., additional, Agirregoitia, E., additional, Irazusta, J., additional, Cha, E. M., additional, Lee, J. H., additional, Park, I. H., additional, Lee, K. H., additional, Kim, M. H., additional, Jensen, M. S., additional, Rebordosa, C., additional, Thulstrup, A. M., additional, Toft, G., additional, Sorensen, H. T., additional, Bonde, J. P., additional, Henriksen, T. B., additional, Olsen, J., additional, Bosco, L., additional, Speciale, M., additional, Manno, M., additional, Amireh, N., additional, Roccheri, M. C., additional, Cittadini, E., additional, Wu, P., additional, Lee, Y. M., additional, Chen, H. W., additional, Tzeng, C. R., additional, Llacer, J., additional, Ten, J., additional, Lledo, B., additional, Rodriguez-Arnedo, A., additional, Morales, R., additional, Bernabeu, R., additional, Garcia-Peiro, A., additional, Martinez-Heredia, J., additional, Oliver-Bonet, M., additional, Ribas, J., additional, Abad, C., additional, Amengual, M. J., additional, Navarro, J., additional, Benet, J., additional, Moutou, C., additional, Gardes, N., additional, Nicod, J. C., additional, Becker, N., additional, Bailly, M. P., additional, Galland, I., additional, Pirello, O., additional, Rongieres, C., additional, Wittemer, C., additional, Viville, S., additional, Elmahaishi, W., additional, Smith, B., additional, Doshi, A., additional, Serhal, P., additional, Harper, J. C., additional, Rennemeier, C., additional, Kammerer, U., additional, Dietl, J., additional, Staib, P., additional, Elgmati, K., additional, Nomikos, M., additional, Theodoridou, M., additional, Calver, B., additional, Swann, K., additional, Lai, F. A., additional, Georgiou, I., additional, Lazaros, L., additional, Xita, N., additional, Kaponis, A., additional, Plachouras, N., additional, Hatzi, E., additional, Zikopoulos, K., additional, Ferfouri, F., additional, Clement, P., additional, Molina Gomes, D., additional, Albert, M., additional, Bailly, M., additional, Wainer, R., additional, Selva, J., additional, Vialard, F., additional, Takisawa, T., additional, Usui, K., additional, Kyoya, T., additional, Shibuya, Y., additional, Hattori, H., additional, Sato, Y., additional, Ota, M., additional, Kyono, K., additional, Chiu, P. C., additional, Lam, K. K., additional, Lee, C. L., additional, Chung, M. K., additional, Huang, V. W., additional, O, W. S., additional, Tang, F., additional, Ho, P. C., additional, Yeung, W. S., additional, Kim, C. H., additional, Lee, J. Y., additional, Kim, S. H., additional, Suh, C. S., additional, Shin, Y. K., additional, Kang, Y. J., additional, Jung, J. H., additional, Cha, C. Y., additional, Hwang, E. S., additional, Mukaida, T., additional, Nagaba, M., additional, Takahashi, K., additional, Elkaffash, D., additional, Sedrak, M., additional, Huhtaniemi, I., additional, Abdel-Al, T., additional, Younan, D., additional, Cassuto, N. G., additional, Bouret, D., additional, Hammoud, I., additional, Barak, Y., additional, Seshadri, S., additional, Bates, M., additional, Vince, G., additional, Jones, D. I., additional, Ben Khalifa, M., additional, Montjean, D., additional, Cohen-Bacrie, P., additional, Aubriot, F. X., additional, Cohen, M., additional, Boudjema, E., additional, Magli, M. C., additional, Crippa, A., additional, Baccetti, B., additional, Ferraretti, A. P., additional, Gianaroli, L., additional, Singer, T., additional, Neri, Q. V., additional, Hu, J. C., additional, Maggiulli, R., additional, Kollman, Z., additional, Rauch, E., additional, Schlegel, P. N., additional, Rosenwaks, Z., additional, Palermo, G. D., additional, Zorn, B., additional, Skrbinc, B., additional, Matos, E., additional, Golob, B., additional, Pfeifer, M., additional, Osredkar, J., additional, Sabanegh, E., additional, Sharma, R. K., additional, Thiyagarajan, A., additional, Agarwal, A., additional, Robin, G., additional, Boitrelle, F., additional, Marcelli, F., additional, Marchetti, C., additional, Mitchell, V., additional, Dewailly, D., additional, Rigot, J. M., additional, Rives, N., additional, Perdrix, A., additional, Travers, A., additional, Milazzo, J. P., additional, Mousset-Simeon, N., additional, Mace, B., additional, Jakab, A., additional, Molnar, Z., additional, Benyo, M., additional, Levai, I., additional, Kassai, Z., additional, Ihan, A., additional, Kopitar, A., additional, Kolbezen, M., additional, Vaamonde, D., additional, Da Silva-Grigoletto, M. E., additional, Garcia-Manso, J. M., additional, Vaamonde-Lemos, R., additional, Oehninger, S. C., additional, Walis, G., additional, Monahan, D., additional, Ermolovich, E., additional, Fadlon, E., additional, Abu Elhija, A., additional, Abu Elhija, M., additional, Lunenfeld, E., additional, Huleihel, M., additional, Costantini-Ferrando, M., additional, Hu, J. C. Y., additional, Alvarez, J. G., additional, Velilla, E., additional, Lopez-Teijon, M., additional, Lopez-Fernandez, C., additional, Tempest, H. G., additional, Sun, F., additional, Ko, E., additional, Turek, P., additional, Martin, R. H., additional, Zomeno-Abellan, M. T., additional, Ramirez, A., additional, Gutierrez-Adan, A., additional, Martinez, J. C., additional, Landeras, J., additional, Ballesta, J., additional, Aviles, M., additional, Ganaiem, M., additional, Binder, S., additional, Meinhardt, A., additional, Sousa, L., additional, Grangeia, A., additional, Carvalho, F., additional, Sousa, M., additional, Barros, A., additional, Sifer, C., additional, Sermondade, N., additional, Hafhouf, E., additional, Poncelet, C., additional, Benzacken, B., additional, Levy, R., additional, Wolf, J. P., additional, Crisol, L., additional, Aspichueta, F., additional, Hernandez, M. L., additional, Exposito, A., additional, Matorras, R., additional, Ruiz-Larrea, M. B., additional, Ruiz-Sanz, J. I., additional, Jallad, S., additional, Atig, F., additional, Ben Amor, H., additional, Saad, A. L. I., additional, Kerkeni, A., additional, Ajina, M., additional, Othmane, A. L. I., additional, Koscinski, I., additional, Ladureau, L., additional, Scarselli, F., additional, Casciani, V., additional, Lobascio, M., additional, Minasi, M. G., additional, Rubino, P., additional, Colasante, A., additional, Arizzi, L., additional, Litwicka, K., additional, Iammarrone, E., additional, Ferrero, S., additional, Mencacci, C., additional, Franco, G., additional, Zavaglia, D., additional, Nagy, Z. P., additional, Greco, E., additional, Ohgi, S., additional, Takahashi, M., additional, Kishi, C., additional, Suga, K., additional, Yanaihara, A., additional, Chamley, L. W., additional, Wagner, A., additional, and Shelling, A. N., additional

Published
2010
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15. Altered Cohesin Gene Dosage Affects Mammalian Meiotic Chromosome Structure and Behavior

Author

Hawley, RS, Murdoch, B, Owen, N, Stevense, M, Smith, H, Nagaoka, S, Hassold, T, McKay, M, Xu, H, Fu, J, Revenkova, E, Jessberger, R, Hunt, P, Hawley, RS, Murdoch, B, Owen, N, Stevense, M, Smith, H, Nagaoka, S, Hassold, T, McKay, M, Xu, H, Fu, J, Revenkova, E, Jessberger, R, and Hunt, P

Abstract

Based on studies in mice and humans, cohesin loss from chromosomes during the period of protracted meiotic arrest appears to play a major role in chromosome segregation errors during female meiosis. In mice, mutations in meiosis-specific cohesin genes cause meiotic disturbances and infertility. However, the more clinically relevant situation, heterozygosity for mutations in these genes, has not been evaluated. We report here evidence from the mouse that partial loss of gene function for either Smc1b or Rec8 causes perturbations in the formation of the synaptonemal complex (SC) and affects both synapsis and recombination between homologs during meiotic prophase. Importantly, these defects increase the frequency of chromosomally abnormal eggs in the adult female. These findings have important implications for humans: they suggest that women who carry mutations or variants that affect cohesin function have an elevated risk of aneuploid pregnancies and may even be at increased risk of transmitting structural chromosome abnormalities.

Published
2013

17. Sex ratio in normal and disomic sperm: evidence that the extra chromosome 21 preferentially segregates with the Y chromosome

Author

Griffin, D. K., Abruzzo, M. A., Millie, E. A., Eleanor Feingold, and Hassold, T. J.

Subjects
Male, Sex Determination Analysis, X Chromosome, urogenital system, Chromosomes, Human, Pair 21, Infant, Newborn, Spermatozoa, Y Chromosome, Humans, Female, Sex Ratio, Down Syndrome, Chromosomes, Human, Pair 18, Research Article
Abstract

In humans, deviations from a 1:1 male:female ratio have been identified in both chromosomally normal and trisomic live births: among normal newborns there is a slight excess of males, among trisomy 18 live borns a large excess of females, and among trisomy 21 live borns an excess of males. These differences could arise from differential production of or fertilization by Y- or X-bearing sperm or from selection against male or female conceptions. To examine the proportion of Y- and X-bearing sperm in normal sperm and in sperm disomic for chromosomes 18 or 21, we used three-color FISH (to the X and Y and either chromosome 18 or chromosome 21) to analyze >300,000 sperm from 24 men. In apparently normal sperm, the sex ratio was nearly 1:1 (148,074 Y-bearing to 148,657 X-bearing sperm), and the value was not affected by the age of the donor. Certain of the donors, however, had significant excesses of Y- or X-bearing sperm. In disomy 18 sperm, there were virtually identical numbers of Y- and X-bearing sperm; thus, the excess of females in trisomy 18 presumably is due to selection against male trisomic conceptions. In contrast, we observed 69 Y-bearing and 44 X-bearing sperm disomic for chromosome 21. This is consistent with previous molecular studies, which have identified an excess of males among paternally derived cases of trisomy 21, and suggests that some of the excess of males among Down syndrome individuals is attributable to a nondisjunctional mechanism in which the extra chromosome 21 preferentially segregates with the Y chromosome.

Published
1996

23. Trisomy 21: Association between reduced recombination and nondisjunction

Author

Sherman, S. L., Takaesu, N., Freeman, S. B., Grantham, M., Phillips, C., Blackston, R. D., Jacobs, P. A., Cockwell, A. E., Freeman, V., Uchida, I., Mikkelsen, M., Kurnit, D. M., Buraczynska, M., Keats, B. J. B., and Hassold, T. J.

Subjects
Adult, Genetic Markers, Male, Recombination, Genetic, Letter, Chromosomes, Human, Pair 21, Chromosome Mapping, Original Articles, Nondisjunction, Genetic, Humans, Female, Crossing Over, Genetic, Down Syndrome, Maternal Age
Abstract

To assess the association between recombination and nondisjunction of chromosome 21, we analyzed cytogenetic and DNA markers in 104 trisomy 21 individuals and their parents. Our DNA marker studies of parental origin were informative in 100 cases, with the overwhelming majority (94) being maternal in origin. This value is significantly higher than the 75%-80% maternal nondisjunction rate typically observed in cytogenetic studies of trisomy 21 and illustrates the increased accuracy of the molecular approach. Using the maternally derived cases and probing at 19 polymorphic sites on chromosome 21, we created a genetic map that spans most of the long arm of chromosome 21. The map was significantly shorter than the normal female linkage map, indicating that absence of pairing and/or recombination contributes to nondisjunction in a substantial proportion of cases of trisomy 21.

Published
1991

24. The parental origin of the extra X chromosome in 47,XXX females

Author

May, K M, Jacobs, P A, Lee, M, Ratcliffe, S, Robinson, A, Nielsen, J, and Hassold, T J

Subjects
Adult, Male, Parents, Meiosis, X Chromosome, Adolescent, Nondisjunction, Genetic, Humans, Female, Trisomy, Research Article, Chromosome Banding
Abstract

We used X-linked DNA polymorphisms to study the parental origin of X chromosome nondisjunction in 28 47,XXX live-born females. Errors in oogenesis accounted for 26 of the cases, with the majority of these being attributable to an error at meiosis I. We observed an association between advanced parental age and meiosis I nondisjunction--but not meiosis II nondisjunction--in the maternally derived cases. In studies of recombination we found little evidence for an association between pairing failure and X chromosome nondisjunction, but our results suggest that increased recombination near the centromere may play a role in the etiology of the 47,XXX condition.

Published
1990

26. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination

Author

Robinson, Wendy P, Kuchinka, B D, Bernasconi, Fabiana, Petersen, Michael B, Schulze, A, Brondum-Nielsen, K, Christian, S L, Ledbetter, D H, Schinzel, Albert, Horsthemke, Bernhard, Schuffenhauer, S, Michaelis, R C, Langlois, S, Hassold, T J, Robinson, Wendy P, Kuchinka, B D, Bernasconi, Fabiana, Petersen, Michael B, Schulze, A, Brondum-Nielsen, K, Christian, S L, Ledbetter, D H, Schinzel, Albert, Horsthemke, Bernhard, Schuffenhauer, S, Michaelis, R C, Langlois, S, and Hassold, T J

Abstract

Non-disjoined chromosomes 15 from 115 cases of uniparental disomy (ascertained through Prader-Willi syndrome) and 13 cases of trisomy of maternal origin were densely typed for microsatellite loci spanning chromosome 15q. Of these 128 cases a total of 97 meiosis I (MI) errors, 19 meiosis II (MII) errors and 12 mitotic errors were identified. The genetic length of a map created from the MI errors was 101 cM, as compared with a maternal length of 137 cM based on CEPH controls. No significant differences were detected in the distribution of recombination events along the chromosome arm and a reduction was seen for most of the chromosome 15 intervals examined. It was estimated that 21% of tetrads leading to MI non-disjunction were achiasmate, which may account for most or all of the reduction in recombination noted. The mean age of mothers of cases involving MI errors which showed no transitions from heterodisomy to isodisomy was significantly lower (32.7) than cases showing one or more observable transitions (36.3) (P < 0.003, t-test). However, even among chiasmate pairs the highest mean maternal age was seen for multiple exchange tetrads. Chromosome-specific differences in maternal age effects may be related to the normal distribution of exchanges (and their individual susceptibilities) for each chromosome. However, they may also reflect the presence of multiple factors which act to ensure normal segregation, each affected by maternal age in a different way and varying in importance for each chromosome

Published
1998

40. Effect of meiotic recombination on the production of aneuploid gametes in humans.

Author

Lamb, N. E., Sherman, S. L., and Hassold, T. J.

Subjects
MEIOSIS, GENETIC recombination, GAMETES, CHROMOSOME abnormalities, CROSSING over (Genetics), CELL division, EMBRYOLOGY
Abstract

Within the last decade, aberrant meiotic recombination has been confirmed as a molecular risk factor for chromosome nondisjunction in humans. Recombination tethers homologous chromosomes, linking and guiding them through proper segregation at meiosis I. In model organisms, mutations that disturb the recombination pathway increase the frequency of chromosome malsegregation and alterations in both the amount and placement of meiotic recombination are associated with nondisjunction. This association has been established for humans as well. Significant alterations in recombination have been found for all meiosis I-derived trisomies studied to date and a subset of so called “meiosis II” trisomy. Often exchange levels are reduced in a subset of cases where the nondisjoining chromosome fails to undergo recombination. For other trisomies, the placement of meiotic recombination has been altered. It appears that recombination too near the centromere or too far from the centromere imparts an increased risk for nondisjunction. Recent evidence from trisomy 21 also suggests an association may exist between recombination and maternal age, the most widely identified risk factor for aneuploidy. Among cases of maternal meiosis I-derived trisomy 21, increasing maternal age is associated with a decreasing frequency of recombination in the susceptible pericentromeric and telomeric regions. It is likely that multiple risk factors lead to nondisjunction, some age dependent and others age independent, some that act globally and others that are chromosome specific. Future studies are expected to shed new light on the timing and placement of recombination, providing additional clues to the link between altered recombination and chromosome nondisjunction. Copyright © 2005 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
2005
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42. Analysis of chromosome conservation in Lemur catta studied by chromosome paints and BAC/PAC probes.

Author

Cardone, Maria, Ventura, Mario, Tempesta, Sergio, Rocchi, Mariano, Archidiacono, Nicoletta, and Hassold, T.

Subjects
CHROMOSOME analysis, RING-tailed lemur, LEMUR (Genus), FLUORESCENCE in situ hybridization, HUMAN chromosomes, KARYOTYPES
Abstract

A panel of human chromosome painting probes and bacterial and P1 artificial chromosome (BAC/PAC) clones were used in fluorescence in situ hybridization (FISH) experiments to investigate the chromosome conservation of the ring-tailed lemur (Lemur catta, LCA) with respect to human. Whole chromosome paints specific for human chromosomes 7, 9, 11, 13, 14, 17, 18, 20, 21, and X were found to identify a single chromosome or an uninterrupted chromosomal region in LCA. A large set of partial chromosome paints and BAC/PAC probes were then used to refine the characterization of the rearrangements differentiating the two karyotypes. The results were also used to reconstruct the ancestral Lemuridae karyotype. Lemur catta, indeed, can be used as an outgroup, allowing symplesiomorphic (ancestral) rearrangements to be distinguished from apomorphic (derived) rearrangements in lemurs. Some LCA chromosomes are difficult to distinguish morphologically. The 'anchorage' of most LCA chromosomes to specific probes will contribute to the standardization of the karyotype of this species. [ABSTRACT FROM AUTHOR]

Published
2002
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43. Lymphoblasts already in the DNA synthesis phase of the cell cycle can be reversibly arrested at the R/G transition.

Author

Lavoie, José, Drouin, Régen, and Hassold, T.

Subjects
DNA synthesis, CELL cycle, CELLS, FLOW cytometry, EPSTEIN-Barr virus, DNA replication
Abstract

Early and late S-phase of the cell cycle are separated by the R-band/G-band (R/G) transition. This corresponds to the time at which R-band synthesis has been completed while G-band synthesis has yet to begin. The aim of this work was to study cell cycle kinetics during S-phase using different blocking agents: mimosine, methotrexate, 5-fluorouracil, 5-fluoro-2′-deoxyuridine and an excess of thymidine. The stage at which these blocking agents arrest the cell cycle and their efficiency at blocking Epstein–Barr virus transformed lymphoblasts at the R/G transition were evaluated using flow cytometric techniques. Mimosine blocked 90% of the cells near the G1/S-phase boundary. Methotrexate, 5-fluoro-2′-deoxyuridine and 5-fluorouracil, and particularly thymidine, let a significant proportion of cells enter S-phase. The cells were released from the arrest state and their progression through early S-phase was monitored by flow cytometry. Before the cells reached the R/G transition, a second agent was added to inhibit cell cycle progression. For example, the use of mimosine followed by thymidine allowed up to 60% of the cells to be blocked at the R/G transition. The arrest of DNA replication at the R/G transition was confirmed by a marked decrease of 5-bromo-2′-deoxyuridine (BrdUrd) incorporation, revealed by using bivariate flow cytometric analysis. The blocking agent was then removed and the cell cohort was released in the presence of BrdUrd so that replication banding analysis could be performed on the harvested mitotic cells. This yielded a mitotic index of approximately 10% and chromosomes showing replication bands. Flow cytometric analysis combined with cytogenetic banding analysis suggested that the R/G transition is an arrest point within the S-phase of the cell cycle and allowed us to conclude that only cells that have already initiated S-phase are blocked at this point. It corresponds to a susceptible site where S-phase can be arrested easily. The R/G transition could also be a regulatory checkpoint within S-phase, a checkpoint that could respond to imbalance in deoxyribonucleotide pools. [ABSTRACT FROM AUTHOR]

Published
2001
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44. Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors.

Author

Mroz, K, Hassold, T J, and Hunt, P A

Abstract

Male mammals with two X chromosomes are sterile due to the loss of virtually all germ cells in the differentiating testis. The survival of rare germ cells, however, can give rise to patches of normal-appearing spermatogenesis in the adult testis. Intracytoplasmic sperm injection (ICSI) makes possible the establishment of a pregnancy using spermatozoa from severely oligozoospermic men and, indeed, has been successful using spermatozoa from human 47,XXY (Klinefelter syndrome) males. The risk of an abnormal pregnancy, however, may be significantly increased since several studies have demonstrated elevated levels of aneuploidy in spermatozoa from Klinefelter syndrome men. This has been suggested to reflect the consequences of meiotic segregation in XXY germ cells; however, it is also possible that it is a consequence of abnormalities in meiotic regulation in the XXY testis. We have addressed this question experimentally in the XXY male mouse. Analysis of testicular spermatozoa from XXY and control males demonstrates a significant increase in meiotic aneuploidy in the XXY mouse. Since previous studies have demonstrated that germ cells in the adult XXY testis are exclusively XY, the meiotic abnormalities observed must be attributable to segregation errors in XY germ cells. These findings have potential significance for ICSI pregnancies using spermatozoa from other types of male factor infertility patients, since they raise the possibility that increased meiotic errors are a generalized feature of the severely oligozoospermic testis. [ABSTRACT FROM AUTHOR]

Published
1999

45. Cytogenetic and molecular studies of trisomy 13.

Author

Hassold, T, Jacobs, P A, Leppert, M, and Sheldon, M

Abstract

Chromosome heteromorphisms, restriction fragment length polymorphisms, or both were used to study the parental origin of 33 cases of simple trisomy 13 and eight cases of translocation trisomy 13. The most common origin for the simple trisomies was non-disjunction at maternal meiosis I, while for the translocations an equal number of paternally and maternally derived cases was observed. In seven of the simple trisomies, information was obtained from both the cytogenetic and molecular markers, making it possible to study recombination between the two non-disjoined chromosomes. Five of the seven cases involved errors at meiosis I, with crossing over being detected in two of three cases of maternal origin and in one of two cases of paternal origin. This indicates that absence of recombination because of pairing failure is unlikely to be of major importance in the genesis of trisomy 13. [ABSTRACT FROM PUBLISHER]

Published
1987
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46. Trisomy 13 ascertained in a survey of spontaneous abortions.

Author

Jacobs, P A, Hassold, T J, Henry, A, Pettay, D, and Takaesu, N

Abstract

In a series of 2922 karyotyped spontaneous abortions, 62 were found to be trisomic for chromosome 13, 46 having a simple trisomy and 16 a translocation trisomy. The epidemiology of this series of trisomy 13 conceptuses is presented and compared to that of trisomy 13 ascertained from other populations. In most compared parameters the trisomy 13 spontaneous abortions are very similar. However, there is no evidence in our material for the fall in proportion of trisomy 13 conceptuses at very advanced maternal ages that has been reported in three previous studies, one of spontaneous abortions and two of amniocentesis specimens. [ABSTRACT FROM PUBLISHER]

Published
1987
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47. An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.

Author

Wisniewski, L, Purdy, G, Hassold, T, Wilson, C, Bentley, K, Hackel, E, and Higgins, J V

Abstract

An infant with peculiar facies, coloboma of both eyes, and developmental retardation was found to have d de novo interstitial deletion of the secondary constriction and some adjacent euchromatin on one of her No. 9 chromosomes, del(9)(q11q21). Since studies on duplications, variants, and the molecular composition of the secondary constriction suggest that it contributes little if any information necessary to normal development, deletion of the euchromatin alone is most probably responsible for the clinical findings. [ABSTRACT FROM PUBLISHER]

Published
1977

48. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.

Author

Robinson, W. P., Kuchinka, B. D., Bernasconi, F., Petersen, M. B., Schulze, A., Brøndum‐Nielsen, K., Christian, S. L., Ledbetter, D. H., Schinzel, A. A., Horsthemke, B., Schuffenhauer, S., Michaelis, R. C., Langlois, S., and Hassold, T. J.

Abstract

Examines the association between maternal age effects and distribution of recombination events along the chromosome arm of Prader-Willi syndrome. Segregation of homologous chromosomes to opposite poles during meiosis; Relationship between chromosome gain or loss and failure of the chromosome to pair and recombine.

Published
1998
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