The complex structure and dynamic evolution of human subtelomeres

Nature Reviews Genetics

Volumn 3, Issue 2, 2002, Pages 91-102

  Mefford, Heather C ^a   Trask, Barbara J ^a  

^a USA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME REARRANGEMENT; CHROMOSOME STRUCTURE; HUMAN; MOLECULAR DYNAMICS; MOLECULAR EVOLUTION; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TELOMERE;

ANIMALS; ETHNIC GROUPS; EVOLUTION; GENE REARRANGEMENT; GENETIC DISEASES, INBORN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MODELS, GENETIC; MULTIGENE FAMILY; POLYMERASE CHAIN REACTION; PRIMATES; RECOMBINATION, GENETIC; TELOMERE; VARIATION (GENETICS);

EID: 0036244955     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/nrg727     Document Type: Review

References (130)

1. Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes
2. Frequent ectopic recombination of virulence factor genes in telomeric chromosome clusters of P. falciparum
3. Var gene diversity in Plasmodium falciparum is generated by frequent recombination events
4. Interchromosomal repeat array interactions between chromosomes 4 and 10: A model for subtelomeric plasticity
5. Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes
6. Incidence of SUC-RTM telomeric repeated genes in brewing and wild wine strains of Saccharomyces
7. Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location
8. Telomere-telomere recombination is an efficient bypass pathway for telomere maintenance in Saccharomyces cerevisiae
9. Telomere maintenance by recombination in human cells
10. Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis
11. Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL)
12. Saccharomyces, cerevisiae telomeres. A review
13. Chromosome ends: All the same under their caps
14. Chromosome 2 sequence of the human malaria parasite Plasmodium falciparum
15. Plasmodium telomeres: A pathogen's perspective
16. The unusual telomeres of Drosophila
17. Transposons in place of telomeric repeats at a Drosophila telomere
18. Structural analysis and complete physical map of Arabidopsis thaliana chromosome 5 including centremeric and telomeric regions
19. Analysis of the genome sequence of the flowering plant Arabidopsis thaliana
20. n are sufficient for chromosome capping function in Caenorhabditis elegans
21. Structure and polymorphism of human telomere-associated DNA
22. Structure and variability of human chromosome ends
23. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16
24. The structure of a subterminal repeated sequence present on many human chromosomes
25. Multiple variants in subtelomeric regions of normal karyotypes
26. A human 12p-derived cosmid hybridizing to subsets of human and chimpanzee telomeres
27. Molecular analysis of a novel subtelomeric repeat with polymorphic chromosomal distribution
28. Recent human-specific spreading of a subtelomeric domain
29. Physical analysis of the terminal 240 kb of DNA from human chromosome 7q
30. Origin of human chromosome 2: An ancestral telomere-telomere fusion
31. Segmental duplications: Organization and impact within the current human genome project assembly
32. The DNA sequence of human chromosome 22
33. The relationship between chromosome structure and function at a human telomeric region
34. Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric, domains
35. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16
36. The telomere-associated DNA from human chromosome 20p contains a pseudotelomere structure and shares sequences with the subtelomeric regions of 4q and 18p
37. The chromosome end in yeast: Its mosaic nature and influence on recombinational dynamics
38. Unusual DNA sequences associated with the ends of yeast chromosomes
39. The structure and evolution of subtelomeric Y' repeats in Saccharomyces cerevisiae
40. Cloning yeast telomeres on linear plasmid vectors
41. Organization of DNA sequences and replication origins at yeast telomeres
42. Evolutionarily recent transfer of a group I mitochondrial intron to telomere regions in Saccharomyces cerevisiae
43. Organization of the SUC gene family in Saccharomyces
44. Evolution of the dispersed SUC gene family of Saccharomyces by rearrangements of chromosome telomeres
45. The naturally occurring alleles of MAL1 in Saccharomyces species evolved by various mutagenic processes including chromosomal rearrangement
46. Molecular evolution of the telomere-associated MAL loci of Saccharomyces
47. A new family of polymorphic genes in Saccharomyces cerevisiae: α-galactosidase genes MEL1-MEL 7
48. Physical mapping of the MEL gene family in Saccharomyces cerevisiae
49. Seripauperins of Saccharomyces cerevisiae: A new multigene family encoding serine-poor relatives of serine-rich proteins
50. RTM1: A member of a new family of telomeric repeated genes in yeast
51. Sequence of a 39,411 bp DNA fragment covering the left end of chromosome VII of Saccharomyces cerevisiae
52. Integration of telomere sequences with the draft human genome sequence
53. Cloning human telomeric DNA fragments into Saccharomyces cerevisiae using a yeast-artificial-chromosome vector
54. Cloning of human telomeres by complementation in yeast
55. Physical analysis of the terminal 270 kb of DNA from human chromosome 1q
56. Sequence organization of the human chromosome 2q telomere
57. Structure of the terminal 300 kb of DNA from human chromosome 21q
58. Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres
59. A sequence-ready map of the human chromosome 17p telomere
60. A sequence-ready map of the human chromosome 1q telomere
61. Homologous recombination within subtelomeric repeat sequences generates chromosome size polymorphisms in P. falciparum
62. The plasticity of human telomeres demonstrated by a hypervariable telomere repeat array that is located on some copies of 16p and 16q
63. High levels of sequence polymorphism and linkage disequilibrium at the telomere of 12q: Implications for telomere biology and human evolution
64. Meiotic chromosome pairing in the normal human female
65. The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes
66. Asymmetry in chromosome pairing: A major factor in de novo mutation and the production of genetic disease in man
67. Mitotic recombination among subtelomeric Y′ repeats in Saccharomyces cerevisiae
68. De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10
69. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q2: Implications for genetic counselling and etiology of FSHD1
70. Somatic pairing between subtelomeric chromosome regions: Implications for human genetic disease?
71. Adjusting the focus on human variation
72. Low nucleotide diversity in man
73. Variation is the spice of life
74. Structure and evolution of human subtelomeric regions
75. Structure and function of telomeres
76. Construction and behavior of circularly permuted and telocentric chromosomes in Saccharomyces cerevisiae
77. The chromosomal organization of the Plasmodium falciparum var gene family is conserved
78. Large deletions result from breakage and healing of P. falciparum chromosomes
79. Healing of broken human chromosomes by the addition of telomeric repeats
80. n
81. Y′-Help1, a DNA helicase encoded by the yeast subtelomeric Y′ element, is induced in survivors defective for telomerase
82. Saccharomyces cerevisiae PAU genes are induced by anaerobiosis
83. Plasmodium falciparum malaria: Cytoadherence of infected erythrocytes to endothelial cells and associated changes in the erythrocyte membrane
84. The large diverse gene family var encodes proteins involved in cytoadherence and antigenic variation of Plasmodium falciparum-Infected erythrocytes
85. Expression of var genes located within polymorphic subtelomeric domains of Plasmodium falciparum chromosomes
86. The var genes of Plasmodium falciparum are located in the subtelomeric region of most chromosomes
87. The polymorphic subtelomeric regions of Plasmodium, falciparum chromosomes contain arrays of repetitive sequence elements
88. The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y
89. The IL-9 receptor gene (IL9R): Genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter
90. Two novel human RAB genes with near identical sequence each map to a telomere-associated region: The subtelomeric region of 22q13.3 and the ancestral telomere band 2q13
91. The chromosome ends of Saccharomyces cerevisiae
92. A superfamily of variant genes encoded in the subtelomeric region of Plasmodium vivax
93. Constitutive mutations of the Saccharomyces cerevisiae MAL-activator genes MAL23, MAL43, MAL 63, and MAL64
94. Removal of Mig1p binding site converts a MAL63 constitutive mutant derived by interchromosomal gene conversion to glucose insensitivity
95. A novel multigene family may encode odorant receptors: A molecular basis for odor recognition
96. The complete human olfactory subgenome
97. Comparable rates of gene loss and functional divergence after genome duplications early in vertebrate evolution
98. Visualizing an olfactory sensory map
99. Telomere-associated chromosome breakage in fission yeast results in variegated expression of adjacent genes
100. Effects of genomic position on the expression of transduced copies of the white gene of Drosophila
101. Position effect at S. cerevisiae telomeres: Reversible repression of Pol II transcription
102. Terminal retrotransposons activate a subtelomeric white transgene at the 2L telomere in Drosophila
103. Silent domains are assembled continuously from the telomere and are defined by promoter distance and strength, and by SIR3 dosage
104. Cohabitation of insulators and silencing elements in yeast subtelomeric regions
105. Limitations of silencing at native yeast telomeres
106. Telomere position effect in human cells
107. Identification of a specific telomere terminal transferase activity in Tetrahymena extracts
108. Telomere maintenance mechanisms and cellular immortalization
109. Telomerase and human tumorigenesis
110. A mutant with a defect in telomere elongation leads to senescence in yeast
111. TLC1: Template RNA component of Saccharomyces cerevisiae telomerase
112. An alternative pathway for yeast telomere maintenance rescues est1-senescence
113. Telomere elongation in immortal human cells without detectable telomerase activity
114. Evidence for an alternative mechanism for maintaining telomere length in human tumors and tumor-derived cell lines
115. Telomere dynamics and telomerase activity in In vitro immortalised human cells
116. A survey of telomerase activity in human cancer
117. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: A general strategy using hypervariable subtelomeric DNA polymorphisms
118. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
119. A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: Clinical findings and review of subtelomeric rearrangements
120. Subtle chromosomal rearrangements in children with unexplained mental retardation
121. Detection of submicroscopic subtelomeric chromosome translocations: A new case study
122. Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13. 3)
123. FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes
124. An optimized set of human telomere clones for studying telomere integrity and architecture
125. Cryptic translocation identification in human and mouse using several telomeric multiplex fish (TM-FISH) strategies
126. Screening chromosome ends for learning disability
127. Caution: Telomere crossing
128. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
129. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
130. Segmental duplications: What's missing, misassigned, and misassembled - And should we care?