Segmental polymorphisms in the proterminal regions of a subset of human chromosomes

Genome Research

Volumn 12, Issue 11, 2002, Pages 1673-1678

  Der Sarkissian, Hera ^a   Vergnaud, Gilles ^b,c   Borde, Yves Marie ^b   Thomas, Gilles ^a   Londoño Vallejo, José Arturo ^a  

^a FONDATION JEAN DAUSSET CEPH   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c CENTRE D ETUDES DU BOUCHET   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME ARM; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CHROMOSOME POLYMORPHISM; CHROMOSOME STRUCTURE; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; COSMID; FREQUENCY ANALYSIS; GENETIC RECOMBINATION; HUMAN; HUMAN CHROMOSOME; HUMAN GENOME; IN SITU HYBRIDIZATION; MOLECULAR EVOLUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TELOMERE;

AFRICAN CONTINENTAL ANCESTRY GROUP; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN; COSMIDS; DNA; EUROPEAN CONTINENTAL ANCESTRY GROUP; EVOLUTION, MOLECULAR; GENE DUPLICATION; GENE ORDER; GENETIC MARKERS; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; POLYMORPHISM, GENETIC; RECOMBINATION, GENETIC; SEQUENCE ANALYSIS, DNA; TELOMERE; VARIATION (GENETICS);

EID: 0036851308     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.322802     Document Type: Article

References (31)

1. Altschul, S.F., Gish, W., Miller, W., Myers, E.W., and Lipman, D.J. 1990. Basic local alignment search tool. J. Mol. Biol. 215: 403-410.
2. Bailey, J.A., Yavor, A.M., Massa, H.F., Trask, B.J., and Eichler, E.E. 2001. Segmental duplications: Organization and impact within the current human genome project assembly. Genome Res. 11: 1005-1017.
3. Blackburn, E.H. 2000. Telomere states and cell fates. Nature 408: 53-56.
4. Brown, W.R., MacKinnon, P.J., Villasante, A., Spurr, N., Buckle, V.J., and Dobson, M.J. 1990. Structure and polymorphism of human telomere-associated DNA. Cell 63: 119-132.
5. Ciccodicola, A., D'Esposito, M., Esposito, T., Gianfrancesco, F., Migliaccio, C., Miano, M.G., Matarazzo, M.R., Vacca, M., Franze, A., Cuccrese, M., et al. 2000. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. Hum. Mol. Genet. 9: 395-401.
6. Cross, S., Lindsey, J., Fantes, J., McKay, S., McGill, N., and Cooke, H. 1990. The structure of a subterminal repeated sequence present on many human chromosomes. Nucleic Acids Res. 18: 6649-6657.
7. de Vries, B.B., White, S.M., Knight, S.J., Regan, R., Homfray, T., Young, I.D., Super, M., McKeown, C., Splitt, M., Quarrell, O.W., et al. 2001. Clinical studies on submicroscopic subtelomeric rearrangements: A checklist. J. Med. Genet. 38: 145-150.
8. Flint, J., Craddock, C.F., Villegas, A., Bentley, D.P., Williams, H.J., Galanello, R., Cao, A., Wood, W.G., Ayyub, H., and Higgs, D.R. 1994. Healing of broken human chromosomes by the addition of telomeric repeats. Am. J. Hum. Genet. 55: 505-512.
9. Flint, J., Bates, G.P., Clark, K., Dorman, A., Willingham, D., Roe, B.A., Micklem, G., Higgs, D.R., and Louis, E.J. 1997a. Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains. Hum. Mol. Genet. 6: 1305-1313.
10. Flint, J., Thomas, K., Micklem, G., Raynham, H., Clark, K., Doggett, N.A., King, A., and Higgs, D.R. 1997b. The relationship between chromosome structure and function at a human telomeric region. Nat. Genet. 15: 252-257.
11. Hackett, J.A., Feldser, D.M., and Greider, C.W. 2001. Telomere dysfunction increases mutation rate and genomic instability. Cell 106: 275-286.
12. Ijdo, J.W., Lindsay, E.A., Wells, R.A., and Baldini, A. 1992. Multiple variants in subtelomeric regions of normal karyotypes. Genomics 14: 1019-1025.
13. Knight, S.J. and Flint, J. 2000. Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis. J. Med. Genet. 37: 401-409.
14. Knight, S.J., Lese, C.M., Precht, K.S., Kuc, J., Ning, Y., Lucas, S., Regan, R., Brenan, M., Nicod, A., Lawrie, N.M., et al. 2000. An optimized set of human telomere clones for studying telomere integrity and architecture. Am. J. Hum. Genet. 67: 320-332.
15. Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., et al. 2001. Initial sequencing and analysis of the human genome. Nature 409: 860-921.
16. Macina, R.A., Negorev, D.G., Spais, C., Ruthig, L.A., Hu, X.L., and Riethman, H.C. 1994. Sequence organization of the human chromosome 2q telomere. Hum. Mol. Genet. 3: 1847-1853.
17. Macina, R.A., Morii, K., Hu, X.L., Negorev, D.G., Spais, C., Ruthig, L.A., and Riethman, H.C. 1995. Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres. Genome Res. 5: 225-232.
18. Martin-Gallardo, A., Lamerdin, J., Sopapan, P., Friedman, C., Fertitta, A.L., Garcia, E., Carrano, A., Negorev, D., Macina, R.A., Trask, B.J., et al. 1995. Molecular analysis of a novel subtelomeric repeat with polymorphic chromosomal distribution. Cytogenet. Cell Genet. 71: 289-295.
19. Mefford, H.C. and Trask, B.J. 2002. The complex structure and dynamic evolution of human subtelomeres. Nat. Rev. Genet. 3: 91-102.
20. Mefford, H.C., Linardopoulou, E., Coil, D., van den Engh, G., and Trask, B.J. 2001. Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes. Hum. Mol. Genet. 10: 2363-2372.
21. Monfouilloux, S., Avet-Loiseau, H., Amarger, V., Balazs, I., Pourcel, C., and Vergnaud, G. 1998. Recent human-specific spreading of a subtelomeric domain. Genomics 51: 165-176.
22. Nagele, R.G., Velasco, A.Q., Anderson, W.J., McMahon, D.J., Thomson, Z., Fazekas, J., Wind, K., and Lee, H. 2001. Telomere associations in interphase nuclei: Possible role in maintenance of interphase chromosome topology. J. Cell Sci. 114: 377-388.
23. Piccini, I., Ballarati, L., Bassi, C., Rocchi, M., Marozzi, A., Ginelli, E., and Meneveri, R. 2001. The structure of duplications on human acrocentric chromosome short arms derived by the analysis of 15p. Hum. Genet. 108: 467-477.
24. Pinkel, D., Straume, T., and Gray, J.W. 1986. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. 83: 2934-2938.
25. Riethman, H.C., Xiang, Z., Paul, S., Morse, E., Hu, X.L., Flint, J., Chi, H.C., Grady, D.L., and Moyzis, R.K. 2001. Integration of telomere sequences with the draft human genome sequence. Nature 409: 948-951.
26. Roeder, G.S. 1997. Meiotic chromosomes: It takes two to tango. Genes & Dev. 11: 2600-2621.
27. Schwartz, S., Zhang, Z., Frazer, K.A., Smit, A., Riemer, C., Bouck, J., Gibbs, R., Hardison, R., and Miller, W. 2000. PipMaker-A web server for aligning two genomic DNA sequences. Genome Res. 10: 577-586.
28. Trask, B.J., Friedman, C., Martin-Gallardo, A., Rowen, L., Akinbami, C., Blankenship, J., Collins, C., Giorgi, D., Iadonato, S., Johnson, F., et al. 1998. Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes. Hum. Mol. Genet. 7: 13-26.
29. Vergnaud, G. 1999. Structure and evolution of human sub-telomeric regions. J. Soc. Biol. 193: 35-40.
30. Walker, M.Y. and Hawley, R.S. 2000. Hanging on to your homolog: The roles of pairing, synapsis and recombination in the maintenance of homolog adhesion. Chromosoma 109: 3-9.
31. Wilkie, A.O., Higgs, D.R., Rack, K.A., Buckle, V.J., Spurr, N.K., Fischel-Ghodsian, N., Ceccherini, I., Brown, W.R., and Harris, P.C. 1991. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell 64: 595-606.