Emerging links between initiation of translation and human diseases

Mammalian Genome

Volumn 13, Issue 8, 2002, Pages 401-410

  Kozak, Marilyn ^a  

^a RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; THROMBOPOIETIN;

DNA DETERMINATION; DNA FLANKING REGION; DNA SEQUENCE; GENE MUTATION; GENE STRUCTURE; ONCOGENE; PROTEIN SYNTHESIS; REVIEW; START CODON; THROMBOCYTOPENIA; TRANSLATION INITIATION; TUMOR SUPPRESSOR GENE; CELL TRANSFORMATION; CHEMISTRY; GENETIC DISORDER; GENETICS; HUMAN; MOLECULAR GENETICS; MUTATION; PHYSIOLOGY;

CELL TRANSFORMATION, NEOPLASTIC; CODON, INITIATOR; GENETIC DISEASES, INBORN; HUMAN; MOLECULAR SEQUENCE DATA; MUTATION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SUPPORT, U.S. GOV'T, P.H.S.; TRANSLATION, GENETIC; HUMANS; PROTEIN BIOSYNTHESIS;

EID: 0036021444     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00335-002-4002-5     Document Type: Review

References (107)

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2. Suppression of ribosomal reinitiation at upstream open reading frames in amino acid-starved cells forms the basis for GCN4 translational control
3. Kozak sequence polymorphism of the glycoprotein (GP) Ibα gene is a major determinant of the plasma membrane levels of the platelet GP Ib-IX-V complex
4. Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene
5. Tissue-specific and ubiquitous promoters direct the expression of alternatively spliced transcripts from the calcitonin receptor gene
6. Enhanced translational efficiency of a novel transforming growth factor β3 mRNA in human breast cancer cells
7. Expression of murine IL-12 is regulated by translational control of the p35 subunit
8. Biochemical characterization of human PC-1, an enzyme possessing alkaline phosphodiesterase I and nucleotide pyrophosphatase activities
9. Mutation creates an open reading frame within the 5′ untranslated region of macaque erythrocyte carbonic anhydrase (CA) I mRNA that suppresses CA I expression and supports the scanning mechanism for translation
10. Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus
11. Role of two upstream open reading frames in the translational control of oncogene mdm2
12. Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome
13. Initiation codon scanthrough versus termination codon readthrough demonstrates strong potential for major histocompatibility complex class I-restricted cryptic epitope expression
14. Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization
15. Two novel β-thalassemia mutations in the 5′ and 3′ noncoding regions of the β-globin gene
16. Translational control of C/EBPα and C/EBPβ isoform expression
17. Structure of the PCCA gene and distribution of mutations causing propionic acidemia
18. Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders
19. A novel influenza A virus mitochondrial protein that induces cell death
20. A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation
21. met functions in directing the scanning ribosome to the start site of translation
22. EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
23. Control of start codon choice on a plant viral RNA encoding overlapping genes
24. The first and third uORFs in RSV leader RNA are efficiently translated: Implications for translational regulation and viral RNA packaging
25. A common C→T polymorphism at nt 46 in the promoter region of coagulation factor XII is associated with decreased factor XII activity
26. 10Neu: An extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus
27. LUCA-1, a candidate tumor suppressor gene on chromosome 3p21.3, is inactivated in head and neck squamous cell carcinomas by aberrant splicing of pre-mRNA
28. A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythaemia through a mechanism of more efficient translation of TPO mRNA
29. Thrombopoietin production is inhibited by a translational mechanism
30. Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene
31. A peptide recognized by human cytotoxic T lymphocytes on HLA-A2 melanomas is encoded by an intron sequence of the N-acetylglucosaminyltransferase V gene
32. Synthesis in vitro of a seven amino acid peptide encoded in the leader RNA of Rous sarcoma virus
33. Diabetes mellitus and exocrine pancreatic dysfunction in Perk -/-mice reveals a role for translational control in secretory cell survival
34. Translation initiation start prediction in human cDNAs with high accuracy
35. Products of two common alleles at the locus for human placental alkaline phosphatase differ by seven amino acids
36. Translational regulation of yeast GCN4. A window on factors that control initiator-tRNA binding to the ribosome
37. Translation initiation and assembly of peripherin in cultured cells
38. β-catenin-sensitive isoforms of lymphoid enhancer factor-1 are selectively expressed in colon cancer
39. mod syndrome: A family study of the translation-initiator mutation in the Rh50 glycoprotein gene
40. A truncated isoform of the PP2A B56 subunit promotes cell motility through paxillin phosphorylation
41. Cloning, sequencing, and chromosomal localization of human term placental alkaline phosphatase cDNA
42. A common genetic polymorphism (46 C to T substitution) in the 5′-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level
43. Familial essential thrombocythemia associated with one-base deletion in the 5′ untranslated region of the thrombopoietin gene
44. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes
45. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs
46. Effects of intercistronic length on the efficiency of reinitiation by eucaryotic ribosomes
47. At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells
48. The scanning model for translation: An update
49. Downstream secondary structure facilitates recognition of initiator codons by eukaryotic ribosomes
50. An analysis of vertebrate mRNA sequences: Intimations of translational control
51. Adherence to the first-AUG rule when a second AUG codon follows closely upon the first
52. Interpreting cDNA sequences: Some insights from studies on translation
53. Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6
54. Initiation of translation in prokaryotes and eukaryotes
55. Do the 5′ untranslated domains of human cDNAs challenge the rules for initiation of translation (or is it vice versa)?
56. Constraints on reinitiation of translation in mammals
57. New ways of initiating translation in eukaryotes?
58. Significant impact of the +93 C/T polymorphism in the apolipoprotein(a) gene on Lp(a) concentrations in Africans but not in Caucasians: Confounding effect of linkage disequilibrium
59. Translational enhancement of mdm2 oncogene expression in human tumor cells containing a stabilized wild-type p53 protein
60. The hormone-sensitive lipase gene is transcribed from at least five alternative first exons in mouse adipose tissue
61. Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice
62. Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes mut° methylmalonic acidemia
63. A 30-kDa alternative translation product of the CCAAT/enhancer binding protein α message: Transcriptional activator lacking antimitotic activity
64. Mutation of the CDKN2A 5′ UTR creates an aberrant initiation codon and predisposes to melanoma
65. Cloning and origin of the two forms of chicken vitamin D receptor
66. Human MxB protein, an interferon-α-inducible GTPase, contains a nuclear targeting signal and is localized in the heterochromatin region beneath the nuclear envelope
67. α-Thalassaemia associated with the deletion of two nucleotides at position -2 and -3 preceding the AUG codon
68. Full-sized RanBPM cDNA encodes a protein possessing a long stretch of proline and glutamine within the N-terminal region, comprising a large protein complex
69. Human O-GlcNAc transferase (OGT): Genomic structure, analysis of splice variants, fine mapping in Xq13.1
70. Molecular cloning of a potential proteinase activated receptor
71. The mouse proteinase-activated receptor-2 cDNA and gene. Molecular cloning and functional expression
72. ABCD1 translation initiator mutation demonstrates genotype-phenotype correlation for AMN
73. Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-α (C/EBPα), in acute myeloid leukemia
74. A reassessment of the translation initiation codon in vertebrates
75. Analysis of oligonucleotide AUG start codon context in eukaryotic mRNAs
76. INK4c expression during myogenesis
77. An alternative open reading frame of the human macrophage colony-stimulating factor gene is independently translated and codes for an antigenic peptide of 14 amino acids recognized by tumor-infiltrating CD8 T lymphocytes
78. Introducing RefSeq and LocusLink: Curated human genome resources at the NCBI
79. In vitro translation of the upstream open reading frame in the mammalian mRNA encoding S-adenosylmethionine decarboxylase
80. 1 adenosine receptor expression
81. APM-1, a novel human gene, identified by aberrant co-transcription with papillomavirus oncogenes in a cervical carcinoma cell line, encodes a BTB/POZ-zinc finger protein with growth inhibitory activity
82. Efficient simultaneous presentation of NY-ESO-1/LAGE-1 primary and nonprimary open reading frame-derived CTL epitopes in melanoma
83. Presence of ATG triplets in 5′ untranslated regions of eukaryotic cDNAs correlates with a 'weak' context of the start codon
84. Identification of BING-4 cancer antigen translated from an alternative open reading frame of a gene in the extended MHC class 11 region using lymphocytes from a patient with a durable complete regression following immunotherapy
85. Correlation between sequence conservation of the 5′ untranslated region and codon usage bias in Mus musculus genes
86. Complete genomic sequence of the human ABCA1 gene: Analysis of the human and mouse ATP-binding cassette A promoter
87. Mechanism of translation of monocistronic and multicistronic human immunodeficiency virus type 1 mRNAs
88. Preferential ribosomal scanning is involved in the differential synthesis of the hepatitis B viral surface antigens from subgenomic transcripts
89. A somatic mutation in the 5′UTR of BRCA1 gene in sporadic breast cancer causes down-modulation of translation efficiency
90. Identification of downstream-initiated c-Myc proteins which are dominant-negative inhibitors of transactivation by full-length c-Myc proteins
91. Elements in the murine c-mos messenger RNA 5′-untranslated region repress translation of downstream coding sequences
92. Statistical analysis of the 5′ untranslated region of human mRNA using "oligo-capped" cDNA libraries
93. The 5′-untranslated region of the mouse glial cell line-derived neurotrophic factor gene regulates expression at both the transcriptional and translational levels
94. Cancer-associated alternative usage of multiple promoters of human GalCer sulfotransferase gene
95. The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene
96. Ataxia caused by mutations in the α-tocopherol transfer protein gene
97. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
98. Rejection antigen peptides on BALB/c RL♂1 leukemia recognized by cytotoxic T lymphocytes: Derivation from the normally untranslated 5′ region of the c-Akt proto-oncogene activated by long terminal repeat
99. A human aminoacyl-tRNA synthetase as a regulator of angiogenesis
100. Inefficient reinitiation is responsible for upstream open reading frame-mediated translational repression of the maize R gene
101. Post-transcriptional regulation of the GLI1 oncogene by the expression of alternative 5′ untranslated regions
102. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia
103. Inhibition of corticotropin releasing hormone type-1 receptor translation by an upstream AUG triplet in the 5′ untranslated region
104. Small changes in expression affect predisposition to tumorigenesis
105. Molecular identification and characterization of A and B forms of the glucocorticoid receptor
106. Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation
107. C/T polymorphism in the 5′ untranslated region of the apolipoprotein(a) gene introduces an upstream ATG and reduces in vitro translation