The hemoglobin regulatory regions

Betty Sue Pace, Levi H Makala

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

All animals that use hemoglobin for oxygen transport synthesize different hemoglobin types during the various stages of development. In humans, two gene clusters direct the production of hemoglobin including the α-locus which contains the embryonic ζ gene and two adult α genes on chromosome 16. A second cluster, the β-globin locus located on chromosome 11, contains the ε, Gγ, Aγ, δ, and β genes. The globin genes are arranged from 5′ to 3′ according to the order of their expression and are developmentally regulated to produce different hemoglobin species during ontogeny. Two switches in the type of hemoglobin synthesized during development occur, a process known as hemoglobin switching. Through research efforts over the last two decades, several insights have been gained into the molecular mechanisms of hemoglobin switching. However, the entire process has not been fully elucidated. Studies of naturally occurring globin gene promoter mutations and transgenic mouse investigations have contributed to our understanding of the effect of DNA mutations on globin gene expression. Furthermore, the developmental regulation of globin gene expression has shaped research efforts to establish therapeutic modalities for individuals affected with sickle cell disease and β-thalassemia. Here, we will review the progress made toward understanding molecular mechanisms that control globin gene expression and the consequences of mutations on hemoglobin switching.

Original languageEnglish (US)
Title of host publicationGene Regulatory Sequences and Human Disease
PublisherSpringer New York
Pages19-40
Number of pages22
ISBN (Electronic)9781461416838
ISBN (Print)1461416825, 9781461416821
DOIs
StatePublished - Sep 1 2011

Fingerprint

Nucleic Acid Regulatory Sequences
Globins
Hemoglobins
Genes
Gene expression
Chromosomes
Mutation
Developmental Gene Expression Regulation
Gene Expression
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 11
Thalassemia
Sickle Cell Anemia
Multigene Family
Research
Transgenic Mice
Animals
Switches
Oxygen
DNA

Keywords

  • Hemoglobin
  • Hemoglobin switching
  • Hereditary persistence of fetal hemoglobin
  • Sickle cell disease
  • Thalassemia
  • α-Globin
  • β-Globin
  • γ-Globin
  • ε-Globin

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Pace, B. S., & Makala, L. H. (2011). The hemoglobin regulatory regions. In Gene Regulatory Sequences and Human Disease (pp. 19-40). Springer New York. https://doi.org/10.1007/978-1-4614-1683-8_2

The hemoglobin regulatory regions. / Pace, Betty Sue; Makala, Levi H.

Gene Regulatory Sequences and Human Disease. Springer New York, 2011. p. 19-40.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pace, BS & Makala, LH 2011, The hemoglobin regulatory regions. in Gene Regulatory Sequences and Human Disease. Springer New York, pp. 19-40. https://doi.org/10.1007/978-1-4614-1683-8_2
Pace BS, Makala LH. The hemoglobin regulatory regions. In Gene Regulatory Sequences and Human Disease. Springer New York. 2011. p. 19-40 https://doi.org/10.1007/978-1-4614-1683-8_2
Pace, Betty Sue ; Makala, Levi H. / The hemoglobin regulatory regions. Gene Regulatory Sequences and Human Disease. Springer New York, 2011. pp. 19-40
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