Lessons from the human genome: Transitions between euchromatin and heterochromatin

Human Molecular Genetics

Volumn 10, Issue 20, 2001, Pages 2215-2223

  Horvath, Julie E ^a   Bailey, Jeffrey A ^a   Locke, Devin P ^a   Eichler, Evan E ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

CENTROMERE; CHROMOSOME STRUCTURE; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; DATA ANALYSIS; DNA TRANSPOSITION; EUCHROMATIN; EVOLUTION; EXON; GENE DUPLICATION; GENE LOCATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOME; HETEROCHROMATIN; HUMAN; HUMAN CELL; INFORMATION PROCESSING; INTRON; MOLECULAR MODEL; NONHUMAN; PHYLOGENY; PRIMATE; PRIORITY JOURNAL; PUBLICATION; REVIEW; SEQUENCE ANALYSIS; SPECIES DIFFERENCE; STRUCTURE ANALYSIS; TANDEM REPEAT;

EUCHROMATIN; EVOLUTION, MOLECULAR; GENE DUPLICATION; GENOME, HUMAN; HETEROCHROMATIN; HUMANS;

PRIMATES;

EID: 0035475786     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.20.2215     Document Type: Review

References (89)

1. The DNA sequence of human chromosome 22
2. The DNA sequence of human chromosome 21
3. Initial sequencing and analysis of the human genome
4. The sequence of the human genome
5. Segmental duplications: Organization and impact within the current human genome project assembly
6. The human transcriptome map: Clustering of highly expressed genes in chromosomal domains
7. Masquerading repeats: Paralogous pitfalls of the human genome
8. The mosaic structure of human pericentromeric DNA: A strategy for characterizing complex regions of the human genome
9. Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations
10. Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q
11. Molecular structure and evolution of an α satellite/non-α satellite junction at 16p11
12. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q
13. Duplication of a gene-rich cluster between 16p11.1 and Xq28: A novel pericentromeric-directed mechanism for paralogous genome evolution
14. Interchromosomal duplications of the adrenoleukodystrophy locus: A phenomenon of pericentromeric plasticity
15. CAGGG repeats and the pericentromeric duplication of the hominoid genome
16. Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition
17. Fluorescence in situ hybridization analysis of keratinocyte growth factor gene amplification and dispersion in evolution of great apes and humans
18. Orphons: Dispersed genetic elements derived from tandem repetitive genes of eucaryotes
19. Comparative mapping of DNA probes derived from the V κ immunoglobulin gene regions on human and great ape chromosomes by fluorescence in situ hybridization
20. A putative gene family in 15q11-13 and 16p11.2: Possible implications for Prader-Willi and Angelman syndromes
21. Immunoglobulin λ light chain orphons on human chromosome 8q11.2
22. Human von Willebrand factor gene and pseudogene: Structural analysis and differentiation by polymerase chain reaction
23. A gene homologous to plasminogen located on human chromosome 2q11-p11
24. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35
25. The organization of the γ-glutamyl transferase genes and other low copy repeats in human chromosome 22q11
26. Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2
27. Recent translocation of variable and diversity segments of the human immunoglobulin heavy chain from chromosome 14 to chromosomes 15 and 16
28. Structural features of transposed human VK genes and implications for the mechanism of their transpositions
29. Juxta-centromeric region of human chromosome 21 is enriched for pseudogenes and gene fragments
30. A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y
31. A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2
32. Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22
33. Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28
34. Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human
35. Analysis of the Cat Eye syndrome critical region in humans and the region of conserved synteny in mice: A search for candidate genes at or near the human chromosome 22 pericentromere
36. Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved 'chromatin folding code.'
37. Region-specific YAC banding and painting probes for comparative genome mapping: Implications for the evolution of human chromosome 2
38. Evidence for an ancestral alphoid domain on the long arm of human chromosome 2
39. Origin of human chromosome 2: An ancestral telomere-telomere fusion
40. Origin of human chromosome 2
41. An alphoid DNA sequence conserved in all human and great ape chromosomes: Evidence for ancient centromeric sequences at human chromosomal regions 2q21 and 9q13
42. G4 DNA binding by LR1 and its subunits, nucleolin and hnRNP D, A role for G-G pairing in immunoglobulin switch recombination
43. Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes
44. Integration of telomere sequences with the draft human genome sequence
45. Formation of parallel four-stranded complexes by guanine-rich motifs in DNA and its implications for meiosis
46. Integration of cytogenetic landmarks into the draft sequence of the human genome
47. Segmental duplications: What's missing, misassigned, and misassembled - and should we care?
48. An integrated metric physical map of human chromosome 19
49. Complex β-satellite repeat structures and the expansion of the zinc finger gene cluster in 19p12
50. Emergence of the ZNF91 Kruppel-associated box-containing zinc finger gene family in the last common ancestor of anthropoidea
51. Genetic and physical analyses of the centromeric and pericentromeric regions of human chromosome 5: Recombination across 5cen
52. Organization and evolution of an α satellite DNA subset shared by human chromosomes 13 and 21
53. A subfamily of alphoid repetitive DNA shared by the NOR-bearing human chromosomes 14 and 22
54. Homologous α satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: Implications for recombination between nonhomologues and Robertsonian translocations
55. Four distinct α satellite subfamilies shared by human chromosomes 13, 14 and 21
56. Evolutionary relationships of multiple α satellite subfamilies in the centromeres of human chromosomes 13, 14, and 21
57. Evolution of α-satellite DNA on human acrocentric chromosomes
58. A palindromic structure in the pericentromeric region of various human chromosomes
59. A new multisequence family in human
60. The topological organization of chromosomes 9 and 22 in cell nuclei has a determinative role in the induction of t(9,22) translocations and in the pathogenesis of t(9,22) leukemias
61. Conservation of pericentromeric duplications of a 200-kb part of the human 21q22.1 region in primates
62. The genomic record of Humankind's evolutionary roots
63. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
64. Structure of chromosomal duplicons and their role in mediating human genomic disorders
65. Duplication and distribution of repetitive elements and non-unique regions in the human genome
66. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
67. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
68. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
69. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
70. A common molecular basis for rearrangement disorders on chromosome 22q11
71. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
72. Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion
73. Repetitive conundrums of centromere structure and function
74. A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - And tolerance of segmental aneuploidy - In humans
75. Jumping translocations are common in solid tumor cell lines and result in recurrent fusions of whole chromosome arms
76. Pericentric inversions. Problems and significance for clinical genetics
77. Human chromosome 9 pericentric homologies: Implications for chromosome 9 heteromorphisms
78. Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes
79. Evolution from fish to mammals by gene duplication
80. Hox genes in vertebrate development
81. T cell antigen receptors and the immunoglobulin supergene family
82. The mutation and polymorphism of the human β-globin gene and its surrounding DNA
83. Structure and organization of ribosomal DNA
84. A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications
85. Gene index analysis of the human genome estimates approximately 120 000 genes
86. How many genes in the human genome?
87. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes