Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)
To Err (meiotically) Is Human: The Genesis Of Human Aneuploidy
Sears, D. D., Hegemann, J. H. & Hieter, P. Meiotic recombination and segregation of human-derived artificial chromosomes in Saccharomyces cerevisiae. Proc. Natl Acad. Sci. USA 89, 5296–5300 (1992).
Koehler, K. E., Hawley, R. S., Sherman, S. & Hassold, T. Recombination and nondisjunction in humans and flies. Hum. Mol. Genet. 5, 1495–1504 ( 1996).
Sandler, L. In Trisomy 21 (Down Syndrome): Research Perspectives (eds de la Cruz, F. & Gerald, P.) 181–197 (Academic, New York, 1981).
Bond, D. & Chandley, A. In Aneuploidy 86– 91 (Oxford Univ. Press, Oxford, 1983).
Smith, K. N. & Nicolas, A. Recombination at work for meiosis . Curr. Opin. Genet. Dev. 8, 200– 211 (1998).
Hassold, T. Et al. Human aneuploidy: incidence, origin, and etiology. Environ. Mol. Mutagen. 28, 167–175 (1996).
Warburton, D. & Fraser, C. Spontaneous abortion risks in man: data from reproductive histories collected in a medical genetics unit. Am. J. Hum. Genet. 16, 1–27 (1964).
Angell, R. R., Sandison, A. & Bain, A. D. Chromosome variation in perinatal mortality: a survey of 500 cases. J. Med. Genet. 21, 39– 44 (1984).
Jamieson, M. E., Coutts, J. R. & Connor, J. M. The chromosome constitution of human preimplantation embryos fertilized in vitro. Hum. Reprod. 9, 709–715 (1994).
Delhanty, J. D. Chromosome analysis by FISH in human preimplantation genetics. Hum. Reprod. 12, 153–155 (1997).
Hassold, T. J. Nondisjunction in the human male. Curr. Top. Dev. Biol. 37, 383–406 (1998).
Jacobs, P. A. The chromosome complement of human gametes. Oxf. Rev. Reprod. Biol. 14, 47–72 ( 1992).
Marquez, C., Cohen, J. & Munne, S. Chromosome identification in human oocytes and polar bodies by spectral karyotyping. Cytogenet. Cell Genet. 81, 254–258 (1998).
Volarcik, K. Et al. The meiotic competence of in-vitro matured human oocytes is influenced by donor age: evidence that folliculogenesis is compromised in the reproductively aged ovary. Hum. Reprod. 13, 154–160 (1998).
Jacobs, P. Et al. Turner syndrome: a cytogenetic and molecular study. Ann. Hum. Genet. 61, 471–483 (1997).
Bugge, M. Et al. Non-disjunction of chromosome 18. Hum. Mol. Genet. 7, 661–669 ( 1998).
Hassold, T., Merrill, M., Adkins, K., Freeman, S. & Sherman, S. Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16. Am. J. Hum. Genet. 57, 867–874 (1995).
Lamb, N. E. Et al. Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum. Mol. Genet. 6, 1391–1399 (1997).
Lamb, N. E. Et al. Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nature Genet. 14, 400–405 (1996).Study that links errors scored as arising at meiosis II, as well as those originating at meiosis I, to the genesis of trisomy 21.
Robinson, W. P. Et al. Nondisjunction of chromosome 15: origin and recombination . Am. J. Hum. Genet. 53, 740– 751 (1993).
MacDonald, M. Et al. The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination. Hum. Mol. Genet. 3, 1365–1371 ( 1994).
Zaragoza, M. V. Et al. Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum. Genet. 94, 411–417 (1994).
Zaragoza, M. V., Millie, E., Redline, R. W. & Hassold, T. J. Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology? J. Med. Genet. 35, 924–931 ( 1998).
Roeder, G. S. Meiotic chromosomes: it takes two to tango. Genes Dev. 11, 2600–2621 (1997).
Ross, L. O., Maxfield, R. & Dawson, D. Exchanges are not equally able to enhance meiotic chromosome segregation in yeast. Proc. Natl Acad. Sci. USA 93, 4979–4983 (1996).
Sears, D. D., Hegemann, J. H., Shero, J. H. & Hieter, P. Cis-acting determinants affecting centromere function, sister-chromatid cohesion and reciprocal recombination during meiosis in Saccharomyces cerevisiae . Genetics 139, 1159– 1173 (1995).
Koehler, K. E. Et al. Spontaneous X chromosome MI and MII nondisjunction events in Drosophila melanogaster oocytes have different recombinational histories . Nature Genet. 14, 406– 414 (1996).Comprehensive analysis of X-chromosome non-disjunction in female flies, demonstrating an association between recombination and non-disjunction that is remarkably similar to that observed in humans.
Rasooly, R. S., New, C. M., Zhang, P., Hawley, R. S. & Baker, B. S. The lethal(1)TW-6cs mutation of Drosophila melanogaster is a dominant antimorphic allele of nod and is associated with a single base change in the putative ATP-binding domain. Genetics 129, 409–422 (1991).
Moore, D. P., Miyazaki, W. Y., Tomkiel, J. E. & Orr-Weaver, T. L. Double or nothing: a Drosophila mutation affecting meiotic chromosome segregation in both females and males. Genetics 136 , 953–964 (1994).
Krawchuk, M. D. & Wahls, W. P. Centromere mapping functions for aneuploid meiotic products: analysis of rec8, rec10 and rec11 mutants of the fission yeast Schizosaccharomyces pombe. Genetics 153, 49–55 ( 1999).
Zetka, M. C. & Rose, A. M. Mutant rec-1 eliminates the meiotic pattern of crossing over in Caenorhabditis elegans. Genetics 141, 1339–1349 (1995).
Chakravarti, A. Et al. Gene-Centromere Mapping and the Study of Non-Disjunction in Autosomal Trisomies and Ovarian Teratomas (eds Hassold, T. & Epstein, C.) (Alan R. Liss, New York City, 1989).
Savage, A. R. Et al. Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum. Mol. Genet. 7, 1221–1227 (1998).
Hassold, T. J., Sherman, S. L., Pettay, D., Page, D. C. & Jacobs, P. A. XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region . Am. J. Hum. Genet. 49, 253– 260 (1991).
Thomas, N. S., Collins, A. R., Hassold, T. J. & Jacobs, P. A. A reinvestigation of non-disjunction resulting in 47,XXY males of paternal origin. Eur. J. Hum. Genet. 8, 805– 808 (2000).
Robinson, W. P. Et al. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum. Mol. Genet. 7, 1011–1019 ( 1998).
Thomas, N. Et al. The origin of maternal sex chromosome non-disjunction. Hum. Mol. Genet. 10, 243–250 (2001).
Angell, R. R. Aneuploidy in older women. Higher rates of aneuploidy in oocytes from older women. Hum. Reprod. 9, 199– 200 (1994).
Angell, R. R. Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man. Hum. Genet. 86, 383– 387 (1991).
Angell, R. First-meiotic-division nondisjunction in human oocytes. Am. J. Hum. Genet. 61, 23–32 ( 1997).
Angell, R. R., Xian, J. & Keith, J. Chromosome anomalies in human oocytes in relation to age. Hum. Reprod. 8, 1047–1054 ( 1993).
Wolstenholme, J. & Angell, R. R. Maternal age and trisomy — a unifying mechanism of formation. Chromosoma 109, 435–438 ( 2000).This paper describes a model linking maternal-age-dependent trisomy and premature separation of sister chromatids at meiosis I.
Mahmood, R., Brierley, C. H., Faed, M. J., Mills, J. A. & Delhanty, J. D. Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception. Hum. Genet. 106, 620– 626 (2000).
Dailey, T., Dale, B., Cohen, J. & Munne, S. Association between nondisjunction and maternal age in meiosis-II human oocytes. Am. J. Hum. Genet. 59, 176–184 (1996).
Penrose, L. The relative effects of paternal and maternal age in mongolism. J. Genet. 27, 219–224 ( 1933).
Morton, N. E., Jacobs, P. A., Hassold, T. & Wu, D. Maternal age in trisomy. Ann. Hum. Genet. 52, 227 –235 (1988).
Risch, N., Stein, Z., Kline, J. & Warburton, D. The relationship between maternal age and chromosome size in autosomal trisomy. Am. J. Hum. Genet. 39, 68–78 (1986).
Ayme, S. & Lippman-Hand, A. Maternal-age effect in aneuploidy: does altered embryonic selection play a role? Am. J. Hum. Genet. 34, 558–565 ( 1982).
Kline, J., Kinney, A., Levin, B. & Warburton, D. Trisomic pregnancy and earlier age at menopause. Am. J. Hum. Genet. 67 , 395–404 (2000).
Freeman, S. B., Yang, Q., Allran, K., Taft, L. F. & Sherman, S. L. Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome. Am. J. Hum. Genet. 66, 1680–1683 ( 2000).
Zheng, C. J. & Byers, B. Oocyte selection: a new model for the maternal-age dependence of Down syndrome. Hum. Genet. 90, 1–6 (1992).
Henderson, S. A. & Edwards, R. G. Chiasma frequency and maternal age in mammals. Nature 217, 22–28 (1968).
Hawley, R. S., Frazier, J. A. & Rasooly, R. Separation anxiety: the etiology of nondisjunction in flies and people. Hum. Mol. Genet. 3, 1521 –1528 (1994).
Warburton, D. The effect of maternal age on the frequency of trisomy: change in meiosis or in utero selection? Prog. Clin. Biol. Res. 311, 165–181 (1989). Thoughtful review of possible mechanisms leading to the generation of the maternal-age effect, with a description of a 'limited oocyte pool' hypothesis to explain it.
Hassold, T., Sherman, S. & Hunt, P. Counting cross-overs: characterizing meiotic recombination in mammals. Hum. Mol. Genet. 9, 2409– 2419 (2000).
Battaglia, D., Goodwin, P. & Klein, N. Influence of maternal age on meiotic spindle assembly in oocytes from naturally cycling women. Hum. Reprod. 11, 2217–2222 (1996). Study that demonstrates an effect of increasing maternal age on meiotic spindle morphology.
Shonn, M. A., McCarroll, R. & Murray, A. W. Requirement of the spindle checkpoint for proper chromosome segregation in budding yeast meiosis. Science 289, 300–303 (2000). Study demonstrating that in yeast, spindle-checkpoint mutations preferentially affect meiosis I chromosome segregation, and indicating that checkpoint defects might contribute to Down syndrome.
Yuan, L. Et al. The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility. Mol. Cell 5, 73–83 (2000). Generation and phenotypic analysis of mice in which a component of the lateral element of the synaptonemal complex has been knocked out.
Uchida, I. & Curtis, E. A possible association between maternal radiation and mongolism. Lancet 2, 848– 850 (1961).
Harlap, S. Et al. Chromosome abnormalities in oral contraceptive breakthrough pregnancies. Lancet 1, 1342– 1343 (1979).
Torfs, C. P., van den Berg, B. J., Oechsli, F. W. & Christianson, R. E. Thyroid antibodies as a risk factor for Down syndrome and other trisomies . Am. J. Hum. Genet. 47, 727– 734 (1990).
Kaufman, M. H. The teratogenic effects of alcohol following exposure during pregnancy, and its influence on the chromosome constitution of the pre-ovulatory egg. Alcohol Alcohol. 32, 113–128 (1997).
Jongbloet, P. H., Mulder, A. & Hamers, A. J. Seasonality of pre-ovulatory non-disjunction and the aetiology of Down syndrome. A European collaborative study. Hum. Genet. 62, 134–138 (1982).
Schimmel, M. S., Eidelman, A. I., Zadka, P., Kornbluth, E. & Hammerman, C. Increased parity and risk of trisomy 21: review of 37,110 live births. Br. Med. J. 314, 720–721 (1997).
Narchi, H. & Kulaylat, N. High incidence of Down's syndrome in infants of diabetic mothers. Arch. Dis. Child. 77 , 242–244 (1997).
Alfi, O. S., Chang, R. & Azen, S. P. Evidence for genetic control of nondisjunction in man . Am. J. Hum. Genet. 32, 477– 483 (1980).
Avramopoulos, D., Mikkelsen, M., Vassilopoulos, D., Grigoriadou, M. & Petersen, M. B. Apolipoprotein E allele distribution in parents of Down's syndrome children. Lancet 347, 862–865 (1996).
Jackson-Cook, C. K., Flannery, D. B., Corey, L. A., Nance, W. E. & Brown, J. A. Nucleolar organizer region variants as a risk factor for Down syndrome. Am. J. Hum. Genet. 37, 1049–1061 (1985).
Verger, P. Down syndrome and ionizing radiation. Hlth Phys. 73 , 882–893 (1997).
Hassold, T. J. & Jacobs, P. A. Trisomy in man . Annu. Rev. Genet. 18, 69– 97 (1984).
Sayee, R. & Thomas, I. M. Consanguinity, non-disjunction, parental age and Down's syndrome. J. Indian Med. Assoc. 96, 335–337 (1998).
Morris, J. K., Alberman, E. & Mutton, D. Is there evidence of clustering in Down syndrome? Int. J. Epidemiol. 27, 495–498 (1998).
Pelz, J. & Kunze, J. Down's syndrome in infants of diabetic mothers. Arch. Dis. Child. 79, 199– 200 (1998).
Stolwijk, A. M., Jongbloet, P. H., Zielhuis, G. A. & Gabreels, F. J. Seasonal variation in the prevalence of Down syndrome at birth: a review. J. Epidemiol. Commun. Hlth 51, 350– 353 (1997).
Ezquerra, M. Et al. Apolipoprotein E ɛ4 alleles and meiotic origin of non- disjunction in Down syndrome children and in their corresponding fathers and mothers. Neurosci. Lett. 248, 1– 4 (1998).
Hassold, T., Jacobs, P. A. & Pettay, D. Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions. Hum. Genet. 76, 381–384 (1987).
Rubin, R. Folic acid might reduce risk of Down syndrome. USA Today Sept 29, D1 (1999).
James, S. J. Et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am. J. Clin. Nutr. 70, 495–501 (1999).
van der Put, N. M. Et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am. J. Hum. Genet. 62, 1044–1051 (1998).
Hobbs, C. A. Et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am. J. Hum. Genet. 67, 623–630 (2000).
Wilson, A. Et al. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol. Genet. Metab. 67, 317–323 (1999).
Petersen, M., Grigoriadou, M. & Mikkelsen, M. A common mutation in the methylenetetrahydrofolate reductase gene is not a risk factor for Down syndrome. Am. J. Hum. Genet. 67, S141 (2000).
Chen, C. L., Gilbert, T. J. & Daling, J. R. Maternal smoking and Down syndrome: the confounding effect of maternal age. Am. J. Epidemiol. 149, 442–446 (1999).
Yang, Q. Et al. Risk factors for trisomy: maternal cigarette smoking and oral contraceptive use in a population-based case-control study. Genet. Med. 1, 80–88 ( 1999).Combined epidemiological and molecular analysis of trisomy 21, in which potential aetiological agents can be linked to the parent and meiotic stage of origin of the extra chromosome.
Hassold, T. & Chiu, D. Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum. Genet. 70, 11–17 ( 1985).
Comments
Post a Comment