Tracking COL1A1 RNA in osteogenesis imperfecta: Splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain

Journal of Cell Biology

Volumn 150, Issue 3, 2000, Pages 417-431

  Johnson, C ^a   Primorac, D ^a   McKinstry, M ^a   McNeil, J ^a   Rowe, D ^a   Lawrence, J B ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

Collagen; Nuclear structure; Osteogenesis imperfecta; RNA splicing; RNA transport

Indexed keywords

COLLAGEN; MESSENGER RNA;

ADOLESCENT; ARTICLE; CHILD; FEMALE; FIBROBLAST; GENE EXPRESSION; HUMAN; HUMAN CELL; MALE; OSTEOGENESIS IMPERFECTA; PATHOGENESIS; PRIORITY JOURNAL; RNA ANALYSIS; RNA SPLICING; RNA TRANSCRIPTION; RNA TRANSPORT;

ADOLESCENT; BIOLOGICAL TRANSPORT; CELL NUCLEUS; CHILD; COLLAGEN; FEMALE; GENE EXPRESSION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRONS; MALE; MODELS, GENETIC; MUTATION; NUCLEAR PROTEINS; OSTEOGENESIS IMPERFECTA; RIBONUCLEOPROTEINS; RNA PRECURSORS; RNA SPLICING; RNA, MESSENGER;

EID: 0034618038     PISSN: 00219525     EISSN: None     Source Type: Journal    
DOI: 10.1083/jcb.150.3.417     Document Type: Article

References (79)

1. Identification of a novel nuclear domain
2. DNA and chromatin structure of the human alpha-1 (1) collagen gene
3. Splicing of Balbiani Ring 1 gene pre-mRNA occurs simultaneously with transcription
4. Association of nuclear matrix antigens with exon-containing splicing complexes
5. Spliced exons of adenovirus late RNAs colocalize with snRNP in a specific nuclear domain
6. Osteogenesis imperfecta
7. Discrete nuclear domains of poly(A) RNA and their relationship to the functional organization of the nucleus
8. A three-dimensional view of precursor messenger RNA metabolism within the mammalian nucleus
9. Regulation by HIV Rev depends upon recognition of splice sites
10. 5,6-Dichloro-1-beta-D-ribofuranosylbenzimidazole inhibits transcription elongation by RNA polymerase II in vitro
11. Multifunctional compartments in the nucleus: Insights from DNA and RNA localization
12. XIST RNA paints the inactive X chromosome at interphase: Evidence for a novel RNA involved in nuclear/chromosome structure
13. Inefficient processing impairs release of RNA from the site of transcription
14. Pre-mRNP particles: From gene to nuclear pore
15. mRNA nuclear export
16. Perichromatin fibrils are in situ forms of nascent transcripts
17. The ultrastructural visualization of nuclear and extranucleolar RNA synthesis and distribution
18. The non-chromatin substructures of the nucleus: The ribonucleoprotein RNP-containing and RNP-depleted matrices analyzed by sequential fractionation and resinless section electron microscopy
19. Factor required for mammalian spliceosome assembly is localized to discrete regions in the nucleus
20. General splicing factors SF2 and SC35 have equivalent activities in vitro, and both affect alternative 5' and 3' splice site selection
21. Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with Type I osteogenesis imperfecta
22. Construction of DNA sequences complementary to rat alpha I and alpha 2 collagen mRNA and their use in studying the regulation of type I collagen synthesis by 1,25-dihydroxyvitamin D
23. Detection of mutations in human type I collagen mRNA in osteogenesis imperfecta by indirect RNase Protection
24. Nuclear transport
25. Nascent pre-mRNA transcripts are associated with nuclear regions enriched in splicing factors
26. RNA export
27. Visualization of focal sites of transcription within human nuclei
28. Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells
29. Nuclear export of different classes of RNA is mediated by specific factors
30. Fluorescent detection of nuclear RNA and DNA: Implication for genome organization
31. Intron-inde-pendent association of splicing factors with active genes
32. Mutations in nucleolar proteins lead to nucleolar accumulation of polyA+ RNA in Saccharomyces cerevisiae
33. Splicing factors associate with hyperphosphorylated RNA polymerase II in the absence of pre-mRNA
34. Nuclear pre-mRNA metabolism: Channels and tracks
35. Reduced mobility of the ASF splicing factor through the nucleoplasm and steady-state speckle compartments
36. Mutations in collagen genes: Causes of rare and some common diseases in humans
37. Nuclear RNA accumulations contain released transcripts and exhibit specific distributions with respect to Sm antigen foci
38. Sensitive high-resolution chromatin and chromosome mapping in situ: Presence and orientation of two closely integrated copies of EBV in a lymphoma line
39. Highly localized tracks of specific transcripts within interphase nuclei visualized by in situ hybridization
40. Probing functional organization within the nucleus: Is genome structure integrated with RNA metabolism?
41. Some cis- and trans-acting mutants for splicing target pre-mRNA to the cytoplasm
42. Splicing is required for rapid and efficient mRNA export in metazoans
43. When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells
44. Nuclear pre-mRNA compartmentalization: Trafficking of released transcripts to splicing factor reservoirs
45. Expression-dependent association of two muscle-specific genes with splicing factor domains
46. Compartmentalization of specific pre-mRNA metabolism: An emerging view
47. A hyperphosphorylated form of the large subunit of RNA polymerase II is associated with splicing complexes and the nuclear matrix
48. RNA transport
49. The architectural organization of nuclear metabolism
50. A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome
51. RNP particles at splice junction sequences on drosophila chorion transcripts
52. High mobility of proteins in the mammalian cell nucleus
53. Intranuclear diffusion and hybridization state of oligonucleotides measured by fluorescence correlation spectroscopy in living cells
54. Premature termination codon in the aggrecan gene of nanomelia and its influence on mRNA transport and stability
55. A spliced intron accu- mulates as a lariat in the nucleus of T cells
56. Bicolor fluorescence in situ hybridization to intron and exon mRNA sequences
57. Immunological and ultrastructural studies of the nuclear coiled body with autoimmune antibodies
58. Purification and visualization of native spliceosomes
59. Osteogenesis imperfecta
60. Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta
61. Coordinate transcriptional regulation of type I procollagen genes by Rous sarcoma virus
62. Seeking common ground in nuclear complexity
63. The intranuclear movement of Balbiani Ring premessenger ribonucleoprorein particles
64. Processing of endogenous pre-mRNAs in association with SC-35 domains is gene specific
65. Macromolecular domains within the cell nucleus
66. Viewpoints: Nuclear structure and function
67. Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta
68. Intranuclear distribution of Poly(A) RNA determined by electron microscope in situ hybridization
69. Fluorescent labeling of nascent RNA reveals transcription by RNA polymerase II in domains scattered throughout the nucleus
70. Three-dimensional visualization of transcription sites and their association with splicing factor-rich nuclear speckles
71. Premature chain termination is a unifying mechanisms for COL1A1 null alleles in osteogenesis imperfecta type 1 cell strains
72. Nuclear RNA tracks: Structural basis for transcription and splicing?
73. Higher level organization of individual gene transcription and RNA splicing
74. Non-random gene organization: Structural arrangements of specific pre-mRNA transcription and splicing with SC-35 domains
75. Phosphoryation regulates in vivo interaction and molecular targeting of serine/arginine-rich pre-mRNA splicing factors
76. Evidence for channeled diffusion of pre-mRNAs during nuclear RNA transport in metazoans
77. Casein kinase Type II is involved in the inhibition by 5,6-dichloro-1-B-D-ribofurano sylbenzimidazole of specific RNA polymerase II
78. In vivo splicing products of the rabbit betaglobin pre-mRNA
79. Evidence for a nuclear compartment of transcription and splicing located at chromosome domain boundaries