Functional role of the four different types of (AT)XTY motifs 5′ to the β-globin gene and their distribution in the greek population

Blood Cells, Molecules, and Diseases

Volumn 28, Issue 1, 2002, Pages 39-46

  Kalotychou, Vassiliki ^a   Kollia, Panagoula ^a   Voskaridou, Ersi ^b   Patargias, Theoharis ^c   Anagnou, Nicholas P ^a   Loukopoulos, Dimitris ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b LAIKO GENERAL HOSPITAL   (Greece)

^c UNIVERSITY OF ATHENS   (Greece)

Author keywords

(AT)XTY configurations; Hemoglobin synthesis; Thalassemia

Indexed keywords

BETA GLOBIN; LUCIFERASE; REPRESSOR PROTEIN; GLOBIN;

5' UNTRANSLATED REGION; ARTICLE; BINDING SITE; CHROMOSOME; CONTROLLED STUDY; DNA FLANKING REGION; ENHANCER REGION; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GREECE; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROMOTER REGION; REPORTER GENE; TRANSCRIPTION REGULATION; CELL CULTURE; COMPARATIVE STUDY; GENE EXPRESSION REGULATION; GENETIC TRANSFECTION; GENETICS; HEMOGLOBINOPATHY; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PLASMID;

5' FLANKING REGION; BASE SEQUENCE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GLOBINS; GREECE; HEMOGLOBINOPATHIES; HUMANS; PLASMIDS; POLYMORPHISM, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; TRANSFECTION; TUMOR CELLS, CULTURED;

EID: 0036100973     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2002.0484     Document Type: Article

References (17)

1. Position independent, high level expression of the human β-globin gene in transgenic mice
2. Developmentally stable chromatin structure in the human β-globin gene cluster
3. Hemoglobin switching
4. A common protein binds to two silencers 5′ to the human β-globin gene
5. Structural analysis of the 5′ flanking region of the β-globin gene in African sickle cell anemia patients: Further evidence for three origins of the sickle mutation in Africa
6. S mutation
7. Y motif at -530 5′ to the β-globin gene in over 40 patients homozygous for various β-thalassemia mutations
8. A β-thalassemia carrier with normal sequence within the β-globin gene
9. The silent carrier allele: β-Thalassemia without a mutation in the β-globin gene or its flanking regions
10. Y motif at the region -530 5′ to the β-globin gene in the Chinese population
11. An increased protein binding to a -530 mutation of the human β-globin gene associated with decreased β-globin synthesis
12. Y upstream to the β-globin gene is a simple polymorphism
13. High frequencies of a rearrangement (+ATA,-T) at -530 to the β-globin gene in different populations indicate the absence of a correlation with a silent β-thalassemia determinant
14. Construction of human gene libraries from small amounts of peripheral blood: Analysis of β-like globin genes
15. DNA sequencing with chain terminating inhibitors
16. S globin gene cluster polymorphisms
17. Nucleotide variation regulates the level of enhancement by hypersensitive site 2 of the β-globin locus control region