Home LiteratureArticle Details
PMID: 6985483 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

The DNA sequence of the 5' flanking region of the human beta-globin gene: evolutionary conservation and polymorphic differences.

Nucleic acids research ·Vol. 10 ·No. 6 ·1982-03-25 ·Pages 2109-20

Moschonas N, de Boer E, Flavell RA

Abstract

We have determined the DNA sequence of a 1464 bp segment immediately flanking the 5' side of the human beta-globin gene. The sequence shows little similarity to the corresponding regions of the epsilon- or gamma-globin genes. There is about 75% homology, however, between the 5' extragenic regions of the beta-globin genes of man, goat and rabbit respectively. The mouse beta minor globin gene, but not the mouse beta major globin gene, also shares this extensive homology. A short segment of simple sequence DNA is found from about 1418 to 1388 bp upstream from the human beta-globin gene which consists of repeats of the sequence (TTTTA). Similar DNA sequences are also found at several sites in the large intron of the beta-globin gene. We have compared the DNA sequence of the 5' extragenic region of the normal beta-globin gene with the same segment of the beta-globin gene of a patient with beta thalassaemia. Of the two nucleotide differences observed, one generates a polymorphic HinfI site present 990 bp upstream from the beta-globin gene in the thalassaemic beta-globin and absent in the normal gene. A second beta thalassemic beta-globin gene which has the same molecular defect as the above mentioned case, however, lacks this HinfI site. It is therefore not yet clear whether this HinfI site will have any value in prenatal diagnosis of beta thalassaemia.

MeSH Terms
Animals Base Sequence Biological Evolution DNA/genetics Genes Globins/genetics Humans Mice Polymorphism, Genetic Repetitive Sequences, Nucleic Acid Species Specificity Thalassemia/diagnosis,genetics
Chemicals
Globins DNA
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Moschonas N
de Boer E
Flavell R A
References (23)
23 references, click to expand
  1. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.
    Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631-5 PMID: 281713
  2. The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA.
    Cell. 1978 Dec;15(4):1157-74 PMID: 728996
  3. Comparison of total sequence of a cloned rabbit beta-globin gene and its flanking regions with a homologous mouse sequence.
    Science. 1979 Oct 19;206(4416):337-44 PMID: 482942
  4. Trans-complementable copy-number mutants of plasmid ColE1.
    Nature. 1980 Jan 10;283(5743):216-8 PMID: 7350544
  5. The evolution and sequence comparison of two recently diverged mouse chromosomal beta--globin genes.
    Cell. 1979 Nov;18(3):865-73 PMID: 519759
  6. Model for antenatal diagnosis of beta-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms.
    Nature. 1980 May 15;285(5761):144-7 PMID: 6246441
  7. Identification of regulatory sequences in the prelude sequences of an H2A histone gene by the study of specific deletion mutants in vivo.
    Proc Natl Acad Sci U S A. 1980 Mar;77(3):1432-6 PMID: 6929494
  8. The 5' flanking region of human epsilon-globin gene.
    Nucleic Acids Res. 1980 Oct 10;8(19):4393-404 PMID: 6253916
  9. Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.
    Cell. 1980 Oct;21(3):627-38 PMID: 7438203
  10. The nucleotide sequence of the human beta-globin gene.
    Cell. 1980 Oct;21(3):647-51 PMID: 6254664
  11. The structure and evolution of the human beta-globin gene family.
    Cell. 1980 Oct;21(3):653-68 PMID: 6985477
  12. In vivo sequence requirements of the SV40 early promotor region.
    Nature. 1981 Mar 26;290(5804):304-10 PMID: 6259538
  13. Unusual sequence homology at the 5-ends of the developmentally regulated beta A-, beta C-, and gamma-globin genes of the goat.
    Proc Natl Acad Sci U S A. 1980 Dec;77(12):7127-31 PMID: 6164057
  14. DNA sequences preceding the rabbit beta-globin gene are required for formation in mouse L cells of beta-globin RNA with the correct 5' terminus.
    Proc Natl Acad Sci U S A. 1981 Mar;78(3):1411-5 PMID: 6262796
  15. Isolation of beta-globin-related genes from a human cosmid library.
    Gene. 1981 Apr;13(3):227-37 PMID: 6266915
  16. Organization and expression of eucaryotic split genes coding for proteins.
    Annu Rev Biochem. 1981;50:349-83 PMID: 6791577
  17. Localization of DNA sequences necessary for transcription of the rabbit beta-globin gene in vitro.
    Cell. 1981 Jul;25(1):215-26 PMID: 7273136
  18. Analysis of transcriptional regulatory signals of the HSV thymidine kinase gene: identification of an upstream control region.
    Cell. 1981 Aug;25(2):385-98 PMID: 6269744
  19. Structure and expression of a cloned beta o thalassaemic globin gene.
    Nucleic Acids Res. 1981 Sep 11;9(17):4391-401 PMID: 6272205
  20. Duplication/deletion polymorphism 5' - to the human beta globin gene.
    Nucleic Acids Res. 1981 Oct 10;9(19):5037-47 PMID: 7312624
  21. DNA sequences necessary for transcription of the rabbit beta-globin gene in vivo.
    Nature. 1982 Jan 14;295(5845):120-6 PMID: 6276753
  22. A history of the human fetal globin gene duplication.
    Cell. 1981 Oct;26(2 Pt 2):191-203 PMID: 7332928
  23. Identification of DNA sequences required for transcription of the human alpha 1-globin gene in a new SV40 host-vector system.
    Cell. 1981 Dec;27(2 Pt 1):279-88 PMID: 6277501
Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
0305-1048
DOI
10.1093/nar/10.6.2109
Published
1982-03-25
Pages
2109-20
Language
English
Region
England
NLM ID
0411011
PMCID
PMC320592
Subset
IM
Databases
GENBANK
J00093, J00094, J00096, J00158, J00159, J00160, J00161, J00162, J00163, J00164, J00165, J00166, J00167, J00168, J00169, J00170, J00171, J00172, J00173, J00174, J00175, J00177, J00178, J00179, K01239, K01890, K02544, M18047, M19067
External Links
PubMed source DOI: 10.1093/nar/10.6.2109 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2