Polymorphisms in the transferrin 5′ flanking region associated with differences in total iron binding capacity: Possible implications in iron homeostasis

Blood Cells, Molecules, and Diseases

Volumn 27, Issue 2, 2001, Pages 539-548

  Lee, Pauline L ^a   Halloran, Carol ^a   Beutler, Ernest ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Haplotype; Hemochromatosis; Iron; Iron deficiency; Iron overload; Parkinson's disease; Polymorphisms; Promoter region; Transferrin

Indexed keywords

FERRITIN; TRANSFERRIN;

ALLELE; CONFERENCE PAPER; CONTROLLED STUDY; DNA FLANKING REGION; ENHANCER REGION; FERRITIN BLOOD LEVEL; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HAPLOTYPE; HEMOCHROMATOSIS; HEMOSTASIS; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; IRON BINDING CAPACITY; IRON DEFICIENCY ANEMIA; IRON STORAGE; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PRIORITY JOURNAL; PROMOTER REGION; RACE;

EID: 0034966041     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2001.0418     Document Type: Conference Paper

References (30)

1. Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC
2. ATA box transcription mutation in beta-thalassemia
3. Functional analysis of a beta-globin gene containing a TATA box mutation from a Kurdish Jew with beta thalassemia
4. A C - T substitution at nt - 101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent" beta-thalassemia
5. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
6. Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias
7. Novel mutations in the human red cell type pyruvate kinase gene: Two promoter mutations in cis, a splice mutation, a nonsense and three missense mutations
8. Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia
9. A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency
10. Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects
11. Molecular characterization of a case of atransferrinemia
12. A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia
13. Does transferrin have a special role in the nervous system?
14. Sertoli cells synthesize and secrete transferrin-like protein
15. Cell type-specific expression of the human transferrin gene. Role of promoter, negative, and enhancer elements
16. Expression from the transferrin gene promoter in transgenic mice
17. The binding site for the liver-specific transcription factor Tf-LF1 and the TATA box of the human transferrin gene promoter are the only elements necessary to direct liver-specific transcription in vitro
18. Brain-specific expression of the human transferrin gene. Similar elements govern transcription in oligodendrocytes and in a neuronal cell line
19. Discovery of a brain promoter from the human transferrin gene and its utilization for development of transgenic mice that express human apolipoprotein E alleles
20. Transcription of the human transferrin gene in neuronal cells
21. Sertoli cell-specific expression of the human transferrin gene. Comparison with the liver-specific expression
22. Comparative sequence analysis of the mouse and human transferrin promoters: Hormonal regulation of the transferrin promoter in Sertoli cells
23. A different combination of transcription factors modulates the expression of the human transferrin promoter in liver and Sertoli cells
24. The 5′ region of the human transferrin gene: Structure and potential regulatory sites
25. The human transferrin gene: 5′ Region contains conserved sequences which match the control elements regulated by heavy metals, glucocorticoids and acute phase reaction
26. Transferrin gene as a model for liver-specific gene expression
27. Oxygen-regulated transferrin expression is mediated by hypoxia-inducible factor-1
28. Role of basic-helix-loop-helix transcription factors in Sertoli cell differentiation: Identification of an E-box response element in the transferrin promoter
29. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic