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Home / Equine Research Bank / Nucleic Acids Res / Genetic organization of the polymorphic equine alpha globin ...
Nucleic acids research1984; 12(20); 7847-7858; doi: 10.1093/nar/12.20.7847

Genetic organization of the polymorphic equine alpha globin locus and sequence of the BII alpha 1 gene.

Abstract: The equine alpha globin gene complex comprises two functional alpha genes and an alpha-like pseudogene arranged in the order 5'-alpha 2-(5kb)-alpha 1-(3kb)-psi alpha-3'. A single (embryonic) zeta-like sequence lies within a 12 kb region 5' to the alpha 2 gene. We have determined the sequence of the alpha 1 gene of the BII haplotype, one of two most common haplotypes (the other being BI) which encode alpha globins with either Tyr (BI) or Phe (BII) at codon 24 in both linked alpha genes. In BI and BII the non-allelic alpha 2 and alpha 1 genes respectively code for Gln or Lys at codon 60, thus accounting for the 4 alpha globin types seen in BI/BII heterozygotes. Genomic restriction enzyme maps of the BII alpha complex (24Phe/60Lys,Gln) and the allelic BI (24Tyr/60Lys,Gln) are identical to each other, and to those of a rarer normal haplotype, A, which encodes only alpha 24Tyr/60Gln globin, and a low expression mutant of BII which encodes only 24Phe/60Lys globin. These two latter haplotypes must therefore have a linked pair of alpha genes, as in BI and BII, but with identical coding properties, and it is suggested that this has arisen by gene conversion.
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Publication Date: 1984-10-25 PubMed ID: 6093055PubMed Central: PMC320204DOI: 10.1093/nar/12.20.7847Google Scholar: Lookup
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Summary

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The research investigates the structure of the horse’s alpha globin gene complex, identifying two operational alpha genes and a pseudogene. The study also sequences the alpha 1 gene of the BII haplotype, a very common type, which plays a part in generating diverse alpha globin types. This understanding contributes to genetic knowledge and potential applications in veterinary medicine.

Overview of Alpha Globin Gene Complex

  • The researchers begin by addressing the structure of the equine (horse) alpha globin gene complex, a part of the genome responsible for producing alpha globin, a component of hemoglobin, which carries oxygen in the blood. This complex comprises three elements: two functional alpha genes (alpha 1 and alpha 2), and a pseudogene (a gene segment that does not produce a functional protein).
  • These elements are arranged in a specific order in the genome, with alpha 2 gene first, followed by alpha 1 gene and finally the pseudogene. The two active alpha genes are separated by a stretch of ‘junk’ DNA.

Determining the Sequence of the BII Haplotype alpha 1 Gene

  • The researchers then delve into a more detailed study of the BI and BII haplotypes, which are common variations present in horse populations. The BI and BII haplotypes differ in terms of a protein building block (also known as an amino acid) coded at position 24 of the alpha 2 and alpha 1 genes. BI codes for Tyrosine (Tyr) at this position, while BII codes for Phenylalanine (Phe).
  • The alpha 2 and alpha 1 genes in both the haplotypes also diverge at codon 60, coding for different amino acids (Gln or Lys), responsible for the different types of alpha globins seen in the BI/BII heterozygotes (individuals carrying both the haplotypes).

Comparative Analysis of Genomic Restriction Enzyme Maps

  • To dig deeper, the researchers developed genomic maps that depict the organization of the alpha complex for the BI and BII types. This was done using restriction enzymes, proteins that “cut” the DNA at specific points revealing its unique structure.
  • The resulting maps of the BII and BI haplotypes were identical, and also matched those of a rarer haplotype, A, and a low-expression mutant of BII. These alpha complexes must therefore contain a pair of alpha genes, but with identical coding properties, suggesting this uniformity came about through gene conversion, a process where one DNA sequence replaces a homologous sequence, thereby converting the latter into the former.

Cite This Article

APA
Clegg JB, Goodbourn SE, Braend M. (1984). Genetic organization of the polymorphic equine alpha globin locus and sequence of the BII alpha 1 gene. Nucleic Acids Res, 12(20), 7847-7858. https://doi.org/10.1093/nar/12.20.7847

Publication

Nucleic acids research
ISSN: 0305-1048
NlmUniqueID: 0411011
Country: England
Language: English
Volume: 12
Issue: 20
Pages: 7847-7858

Researcher Affiliations

Clegg, J B
    Goodbourn, S E
      Braend, M

        MeSH Terms

        • Alleles
        • Amino Acid Sequence
        • Animals
        • Base Sequence
        • DNA Restriction Enzymes
        • Genes
        • Genetic Linkage
        • Genotype
        • Globins / genetics
        • Heterozygote
        • Horses
        • Mutation
        • Phenotype
        • Polymorphism, Genetic

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