The plasticity of human telomeres demonstrated by a hypervariable telomere repeat array that is located on some copies of 16p and 16q

Human Molecular Genetics

Volumn 8, Issue 9, 1999, Pages 1637-1646

  Coleman, Joanna ^a   Baird, Duncan M ^a   Royle, Nicola J ^a  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CAUCASIAN; CHROMOSOME 16P; CHROMOSOME 16Q; CHROMOSOME ARM; HUMAN; NUCLEOTIDE REPEAT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; TELOMERE;

BASE SEQUENCE; BLOTTING, SOUTHERN; CHROMOSOMES, HUMAN, PAIR 16; CLONING, MOLECULAR; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, NUCLEIC ACID; TELOMERE;

EID: 0032833672     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.9.1637     Document Type: Article

References (28)

1. Royle, N.J., Baird, D.M. and Jeffreys, A.J. (1994) A subterminal satellite located adjacent to telomeres in chimpanzees is absent from the human genome. Nature Genet., 6, 52-56.
2. Baird, D.M. and Royle, N.J. (1997) Sequences from higher primates orthologous to the human Xp/Yp telomere junction region reveal gross rearrangements and high levels of divergence. Hum. Mol. Genet., 6, 2291-2299.
3. Ledbetter, D.H. (1992) Minireview: cryptic translocations and telomere integrity. Am. J. Hum. Genet., 51, 451-456.
4. Wilkie, A.O.M. (1993) Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms. Am. J. Hum. Genet., 53, 688-701.
5. Flint, J. et al. (1995) The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nature Genet., 9, 132-140.
6. Flint, J. et al. (1997) Sequence comparison of human and yeast telomeres identifies structurally distinct sublelomeric domains. Hum. Mol. Genet., 6, 1305-1313.
7. Chute, I. et al. (1997) The telomere-associated DNA from human chromosome 20p contains a pseudotelomere structure and shares sequences with the subtelomeric regions of 4q and 18p. Genomics, 46, 51-60.
8. Flint, J. et al. (1997) The relationship between chromosome structure and function at a human telomeric region. Nature Genet., 15, 252-257.
9. Lagercrantz, J. and Lagercrantz, S. (1996) Nucleotide sequence of a cDNA clone (SUBT1) partly homologous to a human subtelomeric repeat sequence. Biochem. Mol. Biol. Int., 39, 303-306.
10. Pryde, F.E. and Louis, E.J. (1997) Saccharomyces cerevisiae telomeres. A review. Biochemistry (Moscow), 62, 1232-1241.
11. Blackburn, E.H. (1997) The lelomere and telomerase: nucleic acid-protein complexes acting in a telomere homeostasis system. A review. Biochemistry (Moscow), 62, 1196-1201.
12. vanSteensel, B. and deLange, T. (1997) Control of telomere length by the human telomeric protein TRF1. Nature, 385, 740-743.
13. vanSteensel, B., Smogorzewska, A. and deLange, T. (1998) TRF2 protects human telomeres from end-to-end fusions. Cell, 92, 401-413.
14. Baird, D.M., Jeffreys, A.J. and Royle, N.J. (1995) Mechanisms underlying telomere repeat turnover, revealed by hypervariable variant repeat distribution patterns in the human Xp/Yp telomere. EMBO J., 14, 5433-5443.
15. Royle, N.J., Hill, M.C. and Jeffreys, A.J. (1992) Isolation of telomere junction fragments by anchored polymerase chain reaction. Proc. R. Soc. Lond. B, 247, 57-61.
16. May, C.A., Jeffreys, A.J. and Armour, J.A.L. (1996) Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309). Hum. Mol. Genet., 5, 1823-1833.
17. Ott, J. (1991) Analysis of Human Genetic Linkage. Revised edn. Johns Hopkins University Press, Baltimore, MD.
18. Brown, W.R.A. et al. (1990) Structure and polymorphism of human telomere-associated DNA. Cell, 63, 119-132.
19. Wilkie, A.O. et al. (1991) Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell, 64, 595-606.
20. Harris, P.C. and Thomas, S. (1992) Length polymorphism of the subtelomeric regions of both the short (P) and long arms (Q) of chromosome-16. Cytogenet. Cell Genet., 60, 171-172.
21. Armour, J.A.L. et al. (1996) Minisatellite diversity supports a recent African origin for modern humans. Nature Genet., 13, 154-160.
22. Reich, D.E. and Goldstein, D.B. (1998) Genetic evidence for a Paleolithic human population expansion in Africa. Proc. Natl Acad. Sci. USA, 95, 8119-8123.
23. Harris, P.C. and Higgs, D.R. (1993) Structure of the terminal region of the short arm of chromosome 16. In Davies, K.E. and Tilghman, S.M. (eds), Genome Analysis. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, Vol. 5, pp. 107-134.
24. vanDeutekom, J.C.T. et al. (1996) Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum. Mol. Genet., 5, 1997-2003.
25. Hewitt, J.E. et al. (1997) Inter- and intrachromosomal duplications of distal chromosome 4q35; an example of telomere plasticity. Am. J. Hum. Genet., 61, 196.
26. Lemmers, R. et al. (1998) Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum. Mol. Genet., 7, 1207-1214.
27. Jeffreys, A.J. et al. (1991) Minisatellite repeat coding as a digital approach to DNA typing. Nature, 354, 204-209.
28. Jeffreys, A.J., Neumann, R. and Wilson, V. (1990) Repeat unit sequence variation in minisatellites: a novel source of DNA polymorphism for studying variation and mutation by single molecule analysis. Cell, 60, 473-485.