A +8 (C→T) mutation within the 5′ untranslated region of β-globin down-regulates the mRNA transcription

Hemoglobin

Volumn 32, Issue 3, 2008, Pages 247-253

  Van De Water, Neil ^a   Tan, Tina ^a   Chan, George ^a   Cole, Nyree ^b   Browett, Peter ^a,c  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b AUCKLAND CITY HOSPITAL   (New Zealand)

^c UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

Globin; 5 Untranslated region (5 UTR); mRNA Transcription; mRNA Translation

Indexed keywords

BETA GLOBIN; MESSENGER RNA; GLOBIN;

5' UNTRANSLATED REGION; ADULT; ARTICLE; BETA THALASSEMIA; DOWN REGULATION; FAMILY; HUMAN; MOLECULAR GENETICS; MUTATION; PRESCHOOL CHILD; RNA TRANSCRIPTION; RNA TRANSLATION; TRANSCRIPTION INITIATION SITE; TRANSLATION INITIATION; ASIAN; BIOSYNTHESIS; GENETIC TRANSCRIPTION; GENETICS; METABOLISM;

EUKARYOTA;

5' UNTRANSLATED REGIONS; ASIAN CONTINENTAL ANCESTRY GROUP; BETA-THALASSEMIA; GLOBINS; HUMANS; MUTATION; TRANSCRIPTION, GENETIC;

EID: 45849125444     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260701798375     Document Type: Article

References (17)

1. Wong C, Dowling CE, Saiki RK, Higuchi RG, Erlich HA, Kazazian HH Jr. Characterization of β-thalassaemia mutations using direct sequencing of amplified single copy DNA. Nature 1987; 330(6146):384-386.
2. Athanassiadou A, Papachatzopoulou A, Zoumbos N, Maniatis GM, Gibbs R. A novel β-thalassaemia mutation in the 5′ untranslated region of the β-globin gene. Br J Haematol 1994; 88(2):307-310.
3. Ho PJ, Sloane-Stanely J, Athanassiadou A, Wood WG, Thein SL. An in vitro system for expression analysis of mutations of the β-globin gene: validation and application to two mutations in the 5′ UTR. Br J Haematol 1999; 106(4):938-947.
4. Oner R, Agarwal S, Dimovski AJ, Efremov GD, Petkov GH, Altay C, Gurgey A, Huisman THJ. The G→A mutation at position +22 3′ to the Cap site of the β-globin gene as a possible cause for a β-thalassemia. Hemoglobin 1991; 15(1):67-76.
5. Ho PJ, Rochette J, Fisher CA, Wonke B, Jarvis MK, Yardumian A, Thein SL. Moderate reduction of β-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families. Blood 1996; 87(3):1170-1178.
6. Huang SZ, Xu YH, Zeng FY, Wu DF, Ren ZR, Zeng YT. A novel β-thalassaemia mutation: deletion of a 4bp (-AAAC) in the 5′ transcriptional sequence. Br J Haematol 1991; 78(1):125-126.
7. Hardison RC, Chui DHK, Giardine B, Riemer C, Patrinos GP, Anagnou N, Miller W, Wajcman H. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002; 19(3):225-233 (http://globin.cse.psu.edu).
8. Patrinos GP, Giardine B, Riemer C, Miller W, Chui DHK, Anagnou NP, Wajcman H, Hardison RC. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 2004; 32(Database issue): D537-D541 (http://globin.cse.psu.edu).
9. Ma SK, Ha SY, Chan AYY, Chan GCF, Lau YL, Chan LC. Two novel β-thalassemia alleles in the Chinese: the IVS-II-2 (?T) and nucleotide +8 (C→T) β-globin gene mutations. Hemoglobin 2000; 24(4):327-332.
10. Lewis BA, Orkins SH. A functional initiator element in the human β-globin promoter. J Biol Chem 1995; 270(47):28139-28144.
11. Lewis BA, Kim T-K, Orkin SH. A downstream element in the human β-globin promoter: evidence of extended sequence-specific transcription factor IID contacts. Proc Natl Acad Sci USA 2000; 97(5):7172-7177.
12. Babendure JR, Babendure JL, Ding JH, Tsien RY. Control of mammalian translation by mRNA structure near caps. RNA 2006; 12(11):851-861.
13. Tettweiler G, Lasko P. A new model for translational regulation of specific mRNAs. Trends Biochem Sci 2006; 31(11):607-610.
14. Pelletier J, Sonenberg N. Insertion mutagenesis to increase secondary structure within the 5′ noncoding region of a eukaryotic mRNA reduces translational efficiency. Cell 1985; 40(3):515-526.
15. Hartman TR, Qian S, Bolinger C, Fernandez S Schoeberg DR, Boris-Lawrie K. RNA helicase A is necessary for translation of selected messenger RNAs. Nat Struct Mol Biol 2006; 13(6):509-516.
16. Mitchell SA, Spriggs KA, Bushell M, Evans JR, Stoneley M, Le Quesne JPC, Spriggs RV, Willis AE. Identification of a motif that mediates polypyrimidine tract-binding protein-dependent internal ribosome entry. Genes Dev 2005; 19(13):1556-1571.
17. Conaway JW, Bradhser JN, Conaway RC. Mechanism of assembly of the RNA polymerase II preinitiation complex. J Biol Chem 1992; 267(14):10142-10148.