PUBLICATION

The evolution of the vertebrate beta-globin gene promoter

Authors
Chuzhanova, N.A., Krawczak, M., Thomas, N., Nemytikova, L.A., Gusev, V.D., and Cooper, D.N.
ID
ZDB-PUB-020403-21
Date
2002
Source
Evolution; international journal of organic evolution   56(2): 224-232 (Journal)
Registered Authors
Keywords
none
MeSH Terms
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Globins/genetics*
  • Humans
  • Mammals/genetics
  • Molecular Sequence Data
  • Peptide Fragments/chemistry
  • Promoter Regions, Genetic*
  • Sequence Alignment
  • Sequence Homology, Nucleic Acid
  • Species Specificity
  • TATA Box
  • Vertebrates/classification*
  • Vertebrates/genetics*
PubMed
11926491 Full text @ Evol. Int. J. Org. Evol.
Abstract
Complexity analysis is capable of highlighting those gross evolutionary changes in gene promoter regions (loosely termed "promoter shuffling") that are undetectable by conventional DNA sequence alignment. Complexity analysis was therefore used here to identify the modular components (blocks) of the orthologous beta-globin gene promoter sequences of 22 vertebrate species, from zebrafish to humans. Considerable variation between the beta-globin gene promoters was apparent in terms of block presence/absence, copy number, and relative location. Some sequence blocks appear to be ubiquitous, whereas others are restricted to a specific taxon. Block similarities were also evident between the promoters of the paralogous human beta-like globin genes. It may be inferred that a wide variety of different mutational mechanisms have operated upon the beta-globin gene promoter over evolutionary time. Because these include gross changes such as deletion, duplication, amplification, elongation, contraction, and fusion, as well as the steady accumulation of single base-pair substitutions, it is clear that some redefinition of the term "promoter shuffling" is required. This notwithstanding, and as previously described for the vertebrate growth hormone gene promoter, the modular structure of the beta-globin promoter region and those of its paralogous counterparts have continually been rearranged into new combinations through the alteration, or shuffling, of preexisting blocks. Some of these changes may have had no influence on promoter function, but others could have altered either the level of gene expression or the responsiveness of the promoter to external stimuli. The comparative study of vertebrate beta-globin gene promoter regions described here confirms the generality of the phenomenon of sequence block shuffling and thus supports the view that it could have played an important role in the evolution of differential gene expression.
Genes / Markers
Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping