A molecular model for sporadic human aneuploidy

Trends in Genetics

Volumn 22, Issue 4, 2006, Pages 218-224

  Warren, William D ^a   Gorringe, Kylie L ^a  

^a JAMES COOK UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

COHESIN;

AGING; ANEUPLOIDY; ARTICLE; CENTROMERE; CHROMOSOME SEGREGATION; DNA POLYMORPHISM; GAMETE; GENETIC RECOMBINATION; HUMAN; MATERNAL AGE; MEIOSIS; MOLECULAR MODEL; OOCYTE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SISTER CHROMATID; TELOMERE; TRISOMY;

ADULT; ANEUPLOIDY; ANIMALS; CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; FEMALE; HUMANS; MATERNAL AGE; MEIOSIS; MODELS, GENETIC; NONDISJUNCTION, GENETIC; NUCLEAR PROTEINS; OOCYTES; PROTEIN KINASES; RECOMBINATION, GENETIC; RISK FACTORS;

EID: 33645861101     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2006.02.007     Document Type: Article

References (38)

1. International Centre for Birth Defects (ICBD) of the International Clearinghouse for Birth Defects Monitoring Systems. World Atlas of Birth Defects. 2nd edn (2003), World Health Organization
2. Stern J.J., et al. Frequency of abnormal karyotypes among abortuses from women with and without a history of recurrent spontaneous abortion. Fertil. Steril. 65 (1996) 250-253
3. Hassold T., and Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat. Rev. Genet. 2 (2001) 280-291
4. Kuliev A., and Verlinsky Y. Meiotic and mitotic nondisjunction: lessons from preimplantation genetic diagnosis. Hum. Reprod. Update 10 (2004) 401-407
5. Johnson J., et al. Germline stem cells and follicular renewal in the postnatal mammalian ovary. Nature 428 (2004) 145-150
6. Hassold T., et al. Cytogenetic and molecular studies of trisomy 13. J. Med. Genet. 24 (1987) 725-732
7. Lamb N.E., et al. Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum. Mol. Genet. 6 (1997) 1391-1399
8. Thomas N.S., and Hassold T.J. Aberrant recombination and the origin of Klinefelter syndrome. Hum. Reprod. Update 9 (2003) 309-317
9. Koehler K.E., and Hassold T.J. Human aneuploidy: lessons from achiasmate segregation in Drosophila melanogaster. Ann. Hum. Genet. 62 (1998) 467-479
10. Angell R.R., et al. First meiotic division abnormalities in human oocytes: mechanism of trisomy formation. Cytogenet. Cell Genet. 65 (1994) 194-202
11. Nasmyth K. Disseminating the genome: joining, resolving, and separating sister chromatids during mitosis and meiosis. Annu. Rev. Genet. 35 (2001) 673-745
12. Xu H., et al. A new role for the mitotic RAD21/SCC1 cohesin in meiotic chromosome cohesion and segregation in the mouse. EMBO Rep. 5 (2004) 378-384
13. Blat Y., and Kleckner N. Cohesins bind to preferential sites along yeast chromosome III, with differential regulation along arms versus the centric region. Cell 98 (1999) 249-259
14. Watanabe Y. Sister chromatid cohesion along arms and at centromeres. Trends Genet. 21 (2005) 405-412
15. Buonomo S.B., et al. Disjunction of homologous chromosomes in meiosis I depends on proteolytic cleavage of the meiotic cohesin Rec8 by separin. Cell 103 (2000) 387-398
16. Kitajima T.S., et al. The conserved kinetochore protein shugoshin protects centromeric cohesion during meiosis. Nature 427 (2004) 510-517
17. Klein F., et al. A central role for cohesins in sister chromatid cohesion, formation of axial elements, and recombination during yeast meiosis. Cell 98 (1999) 91-103
18. Pasierbek P., et al. A Caenorhabditis elegans cohesion protein with functions in meiotic chromosome pairing and disjunction. Genes Dev. 15 (2001) 1349-1360
19. Xu H., et al. Absence of mouse REC8 cohesin promotes synapsis of sister chromatids in meiosis. Dev. Cell 8 (2005) 949-961
20. Hodges C.A., et al. SMC1β-deficient mice provide evidence that cohesins are a missing link in age-related nondisjunction. Nat. Genet. 37 (2005) 1351-1355
21. Uhlmann F., and Nasmyth K. Cohesion between sister chromatids must be established during DNA replication. Curr. Biol. 8 (1998) 1095-1101
22. Hassold T., and Sherman S. Down syndrome: genetic recombination and the origin of the extra chromosome 21. Clin. Genet. 57 (2000) 95-100
23. Millband D.N., et al. The awesome power of multiple model systems: interpreting the complex nature of spindle checkpoint signaling. Trends Cell Biol. 12 (2002) 205-209
24. Champion M.D., and Hawley R.S. Playing for half the deck: the molecular biology of meiosis. Nat. Cell Biol. 4 (2002) s50-s56
25. Cheslock P.S., et al. The roles of MAD1, MAD2 and MAD3 in meiotic progression and the segregation of nonexchange chromosomes. Nat. Genet. 37 (2005) 756-760
26. Michel L.S., et al. MAD2 haplo-insufficiency causes premature anaphase and chromosome instability in mammalian cells. Nature 409 (2001) 355-359
27. Baker D.J., et al. BubR1 insufficiency causes early onset of aging-associated phenotypes and infertility in mice. Nat. Genet. 36 (2004) 744-749
28. Kong A., et al. Recombination rate and reproductive success in humans. Nat. Genet. 36 (2004) 1203-1206
29. St Johnston D. The art and design of genetic screens: Drosophila melanogaster. Nat. Rev. Genet. 3 (2002) 176-188
30. Munne S., et al. Increased rate of aneuploid embryos in young women with previous aneuploid conceptions. Prenat. Diagn. 24 (2004) 638-643
31. Dobie K.W., et al. Identification of chromosome inheritance modifiers in Drosophila melanogaster. Genetics 157 (2001) 1623-1637
32. Warren C.D., et al. S-phase checkpoint genes safeguard high-fidelity sister chromatid cohesion. Mol. Biol. Cell 15 (2004) 1724-1735
33. Warburton D., et al. Trisomy recurrence: a reconsideration based on North American data. Am. J. Hum. Genet. 75 (2004) 376-385
34. Broman K.W., et al. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63 (1998) 861-869
35. Brown A.S., et al. Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21. Hum. Mol. Genet. 9 (2000) 515-523
36. Sunyaev S., et al. Prediction of deleterious human alleles. Hum. Mol. Genet. 10 (2001) 591-597
37. Haering C.H., et al. Molecular architecture of SMC proteins and the yeast cohesin complex. Mol. Cell 9 (2002) 773-788
38. Herbert M., et al. Homologue disjunction in mouse oocytes requires proteolysis of securin and cyclin B1. Nat. Cell Biol. 5 (2003) 1023-1025