Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans

Human Molecular Genetics

Volumn 7, Issue 8, 1998, Pages 1221-1227

  Savage, Amanda R ^a   Petersen, Michael B ^c,d   Pettay, Dorothy ^a   Taft, Lisa ^a   Allran, Katherine ^a   Freeman, Sallie B ^a   Karadima, Georgia ^c   Avramopoulos, Dimitris ^c   Torfs, Claudine ^e   Mikkelsen, Margareta ^d   Hassold, Terry J ^b   Sherman, Stephanie L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Institute of Child Health   (Greece)

^d JOHN F KENNEDY INSTITUTE   (Denmark)

^e California Birth Defects Monitoring Program   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 21; GENETIC RECOMBINATION; HUMAN; MAJOR CLINICAL STUDY; MEIOSIS; PRIORITY JOURNAL; TRISOMY 21;

MARTES PENNANTI;

EID: 7344224406     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.8.1221     Document Type: Article

References (30)

1. Fryns, J.P. (1987) Chromosomal anomolies and autosomal syndromes. Birth Defects, 23, 7-32.
2. 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. (1991) Trisomy 21: association between reduced recombination and nondisjunction. Am. J. Hum. Genet., 49, 608-620.
3. Antonarakis, S.E. and the Down Syndrome Collaborative Group (1991) Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. N. Engl. J. Med., 324, 872-876.
4. Hassold, T.J., Sherman, S.L., Pettay, D., Page, D.C. and Jacobs, P.A. (1991) XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am. J. Hum. Genet., 49, 253-260.
5. Hassold, T.J. (1998) Nondisjunction in the human male. Curr. Top. Dev. Biol., 37, 383-403.
6. Petersen, M.B., Antonarakis, S.E., Hassold, T.J., Freeman, S.B., Sherman, S.L., Avramopoulos, D. and Mikkelsen, M. (1993) Paternal non-disjunction in trisomy 21: an excess of male patients. Hum. Mol. Genet., 2, 1691-1695.
7. Hug, E. (1951) Das Geschlechtsverhaltnis biem Mongolismus. Ann. Paediatr., 177, 31-54.
8. Bernheim, A., Chastang, Cl., de Heaulme, M. and de Grouchy, J. (1979) Exces de garcons dans la trisomie 21. Ann. Genet., 22, 112-114.
9. Nielsen, J., Jacobsen, P., Mikkelsen, M., Niebuhr, E. and Sorensen, K. (1981) Sex ratio in Down syndrome. Ann. Genet., 24, 212-215.
10. Mikkelsen, M., Poulsen, H. and Nielsen, G. (1990) Incidence, survival, and mortality in Down syndrome in Denmark. Am. J. Med. Genet., 7 (suppl.), 75-78.
11. Griffin, D., Abruzzo, M., Millie, E., Feingold, E. and Hassold, T. (1996) Sex ratio in normal and disomic sperm: evidence that the extra chromosome 21 preferentially segregates with the Y chromosome. Am. J. Hum. Genet., 59, 1108-1113.
12. Hassold, T., Quillen, S.D. and Yamane, J.A. (1983) Sex ratio in spontaneous abortions. Ann. Hum. Genet., 47, 39-47.
13. Kochler, K., Hawley, S., Sherman, S. and Hassold, T. (1996) Recombination and nondisjunction in humans and flies. Hum. Mol. Genet., 5, 1495-1504.
14. Lamb, N., Feingold, E., Savage, A., Avramopoulos, D., Freeman, S., Gu, Y., Hallberg, A., Hersey, J., Karadima, G., Pettay, D., Saker, D., Shen, J., Taft, L., Mikkelsen, M., Petersen, M., Hassold, T. and Sherman, S. (1997) Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum. Mol. Genet., 6, 1391-1399.
15. Lamb, N., Freeman, S., Savage-Austin, A., Pettay, D., Taft, L., Hersey, J., Gu, Y., Shen, J., Saker, D., May, K., Avramopoulos, D., Petersen, M., Hallberg, A., Mikkelsen, M., Hassold, T. and Sherman, S. (1996) Suseptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nature Genet., 14, 400-405.
16. McInnis, M.G., Chakravarti, A., Blaschak, J., Petersen, M.B., Sharma, V., Avramopoulos, D., Blouin, J., Konig, U., Brahe, C., Matise, T.C., Warren, A.C., Talbot, C.C., Van Broeckhoven, C., Litt, M. and Antonarakis, S.E. (1993) A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics, 16, 562-571.
17. Novitski, E. and Sandier, L. (1956) Relationship between parental age, birth order, and secondary sex ratio in humans. Ann. Hum. Genet., 21, 123-131.
18. Huether, C.A., Martin, R.L., Stoppelman, S.M., D'Souza, S., Bishop, J.K., Torfs, C.P., Lorey, F., May, K.M., Hanna, J.S., Baird, P.A. and Kelly, J.C. (1996) Sex ratios in fetuses and liveborn infants with autsomal aneuploidy. Am. J. Med. Genet., 63, 492-500.
19. Hawley, R.S. and Therkauf, W.E. (1993) Requiem for distributive segregation: achiasmate segregation in Drosophila females. Trends Genet., 9, 310-317.
20. Angell, R. (1997) First-meiotic-division nondisjunction in human oocytes. Am. J. Hum. Genet., 61, 23-32.
21. Chua, P. and Roeder, S. (1997) Taml, a telomere-associated meiotic protein, functions in chromosome synapsis and crossover interference. Genes Dev., 11, 1786-1800.
22. Antonarakis, S.E., Avramopoulos, D., Blouin, J., Talbot, C.C. and Schinzel, A.A. (1993) Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nature Genet., 3, 146-150.
23. Petersen, M.B., Frantzen, M., Antonarakis, S.E., Warren, A.C., Van Broeckhoven, C., Chakravarti, A., Cox, T.K., Lund, C., Olsen, B., Poulsen, H., Sand, A., Toinmerup, N. and Mikkelsen, M. (1992) Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome. Am. J. Hum. Genet., 51, 516-525.
24. Yoon, P.W., Freeman, S.B., Sherman, S.L., Taft, L.F., Gu, Y., Pettay, D., Flanders, W.U., Khoury, M.J. and Hassold, T.J. (1996) Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of the chromosomal error: a population-based study. Am. J. Hum. Genet., 58, 628-633.
25. Hassold, T.E., Kumlin, E., Takaesu, N. and Leppert, M. (1985) Determination of the parental origin of sex-chromosome monosomy using restriction fragment length polymorphisms. Am. J. Hum. Genet., 37, 965-972.
26. Van Hul, W., Van Camp, G., Stuyver, L., Delabar, J., Mclnnis, M.G., Warren, A.C., Antonarakis, S.E. and Van Broeckhoven, C. (1993) A contiguous physical map of the pericentromeric region of chromosome 21q between D21Z1 and D21S13E. Genomics, 15, 626-630.
27. Jabs, E.W., Warren, A.C., Taylor, E.W., Colyer, C.R., Meyers, D.A. and Antonarakis, S.E. (1991) Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both. Geiuimics, 9, 141-146.
28. Lamb, N., Feingold, E. and Sherman, S. (1997) Estimating meiotic exchange patterns from recombination data: an application to humans. Genetics, 146, 1011-1017.
29. Weinstein, A. (1936) The theory of multiple strand crossing-over. Genetics, 21, 155-199.
30. Merriam, J.R. and Frost, J.N. (1964) Exchange and nondisjunction of the X chromosomes in female Drosophila melanogaster. Genetics, 49, 109-122.