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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

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

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

        References

        This article includes 26 references
        1. Kilmartin JV, Clegg JB. Amino-acid replacements in horse haemoglobin.. Nature 1967 Jan 21;213(5073):269-71.
          pubmed: 6030605doi: 10.1038/213269a0google scholar: lookup
        2. Braend M. Genetic variation of horse hemoglobin.. Hereditas 1967;58(3):385-92.
          pubmed: 5584144doi: 10.1111/j.1601-5223.1967.tb02163.xgoogle scholar: lookup
        3. Lie H. Serum types of the Nordland horse and the Norwegian trotter.. Nord Vet Med 1973 Feb;25(2):83-7.
          pubmed: 4723621
        4. Clegg JB. Horse hemoglobin polymorphism.. Ann N Y Acad Sci 1974 Nov 29;241(0):61-9.
          pubmed: 4530685doi: 10.1111/j.1749-6632.1974.tb21866.xgoogle scholar: lookup
        5. Radding CM. Genetic recombination: strand transfer and mismatch repair.. Annu Rev Biochem 1978;47:847-80.
          pubmed: 150254doi: 10.1146/annurev.bi.47.070178.004215google scholar: lookup
        6. Orkin SH. The duplicated human alpha globin genes lie close together in cellular DNA.. Proc Natl Acad Sci U S A 1978 Dec;75(12):5950-4.
          pubmed: 282616doi: 10.1073/pnas.75.12.5950google scholar: lookup
        7. Maxam AM, Gilbert W. Sequencing end-labeled DNA with base-specific chemical cleavages.. Methods Enzymol 1980;65(1):499-560.
          pubmed: 6246368doi: 10.1016/s0076-6879(80)65059-9google scholar: lookup
        8. Zimmer EA, Martin SL, Beverley SM, Kan YW, Wilson AC. Rapid duplication and loss of genes coding for the alpha chains of hemoglobin.. Proc Natl Acad Sci U S A 1980 Apr;77(4):2158-62.
          pubmed: 6929543doi: 10.1073/pnas.77.4.2158google scholar: lookup
        9. Lauer J, Shen CK, Maniatis T. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.. Cell 1980 May;20(1):119-30.
          pubmed: 6446404doi: 10.1016/0092-8674(80)90240-8google scholar: lookup
        10. Matsuda G, Maita T, Braunitzer G, Schrank B. [Hemoglobins, XXXIII. Note on the Sequence of the hemoglobins of the horse (author's transl)].. Hoppe Seylers Z Physiol Chem 1980 Jul;361(7):1107-16.
          pubmed: 7409745
        11. Efstratiadis A, Posakony JW, Maniatis T, Lawn RM, O'Connell C, Spritz RA, DeRiel JK, Forget BG, Weissman SM, Slightom JL, Blechl AE, Smithies O, Baralle FE, Shoulders CC, Proudfoot NJ. The structure and evolution of the human beta-globin gene family.. Cell 1980 Oct;21(3):653-68.
          pubmed: 6985477doi: 10.1016/0092-8674(80)90429-8google scholar: lookup
        12. Loenen WA, Brammar WJ. A bacteriophage lambda vector for cloning large DNA fragments made with several restriction enzymes.. Gene 1980 Aug;10(3):249-59.
          pubmed: 6254843doi: 10.1016/0378-1119(80)90054-2google scholar: lookup
        13. Liebhaber SA, Goossens M, Kan YW. Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin.. Nature 1981 Mar 5;290(5801):26-9.
          pubmed: 7010180doi: 10.1038/290026a0google scholar: lookup
        14. Weaver S, Comer MB, Jahn CL, Hutchison CA 3rd, Edgell MH. The adult beta-globin genes of the "single" type mouse C57BL.. Cell 1981 May;24(2):403-11.
          pubmed: 7237554doi: 10.1016/0092-8674(81)90330-5google scholar: lookup
        15. Breathnach R, Chambon P. Organization and expression of eucaryotic split genes coding for proteins.. Annu Rev Biochem 1981;50:349-83.
          pubmed: 6791577doi: 10.1146/annurev.bi.50.070181.002025google scholar: lookup
        16. Scherer G, Telford J, Baldari C, Pirrotta V. Isolation of cloned genes differentially expressed at early and late stages of Drosophila embryonic development.. Dev Biol 1981 Sep;86(2):438-47.
          pubmed: 6269930doi: 10.1016/0012-1606(81)90202-5google scholar: lookup
        17. Schon EA, Wernke SM, Lingrel JB. Gene conversion of two functional goat alpha-globin genes preserves only minimal flanking sequences.. J Biol Chem 1982 Jun 25;257(12):6825-35.
          pubmed: 6282825
        18. Zassenhaus HP, Butow RA, Hannon YP. Rapid electroelution of nucleic acids from agarose and acrylamide gels.. Anal Biochem 1982 Sep 1;125(1):125-30.
          pubmed: 6183990doi: 10.1016/0003-2697(82)90392-xgoogle scholar: lookup
        19. Weiss EH, Mellor A, Golden L, Fahrner K, Simpson E, Hurst J, Flavell RA. The structure of a mutant H-2 gene suggests that the generation of polymorphism in H-2 genes may occur by gene conversion-like events.. Nature 1983 Feb 24;301(5902):671-4.
          pubmed: 6828150doi: 10.1038/301671a0google scholar: lookup
        20. Blanchetot A, Wilson V, Wood D, Jeffreys AJ. The seal myoglobin gene: an unusually long globin gene.. Nature 1983 Feb 24;301(5902):732-4.
          pubmed: 6828156doi: 10.1038/301732a0google scholar: lookup
        21. Hess JF, Fox M, Schmid C, Shen CK. Molecular evolution of the human adult alpha-globin-like gene region: insertion and deletion of Alu family repeats and non-Alu DNA sequences.. Proc Natl Acad Sci U S A 1983 Oct;80(19):5970-4.
          pubmed: 6310609doi: 10.1073/pnas.80.19.5970google scholar: lookup
        22. Michelson AM, Orkin SH. Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination.. J Biol Chem 1983 Dec 25;258(24):15245-54.
          pubmed: 6317690
        23. Braend M, Clegg JB, Storset A. Inheritance of an abnormal haemoglobin haplotype in horses and its possible influence on blood values.. Acta Vet Scand 1983;24(4):384-91.
          pubmed: 6675451doi: 10.1186/BF03546712google scholar: lookup
        24. Braend M, Johansen KE. Haemoglobin types in Norwegian horses.. Anim Blood Groups Biochem Genet 1983;14(4):305-7.
          pubmed: 6675488doi: 10.1111/j.1365-2052.1983.tb01089.xgoogle scholar: lookup
        25. Ryder OA, Sparkes RS, Sparkes MC, Clegg JB. Hemoglobin polymorphism in Equus przewalskii and E. caballus analyzed by isoelectric focusing.. Comp Biochem Physiol B 1979;62(4):305-8.
          pubmed: 318448doi: 10.1016/0305-0491(79)90093-2google scholar: lookup
        26. BANGHAM AD, LEHMANN H. Multiple haemoglobins in the horse.. Nature 1958 Jan 24;181(4604):267-8.
          pubmed: 13504147doi: 10.1038/181267a0google scholar: lookup

        Citations

        This article has been cited 5 times.
        1. Gevorkian SG, Allahverdyan AE, Gevorgyan DS, Hu CK. Thermal-induced force release in oxyhemoglobin. Sci Rep 2015 Aug 17;5:13064.
          doi: 10.1038/srep13064pubmed: 26277901google scholar: lookup
        2. Marks J, Shaw JP, Shen CK. The orangutan adult alpha-globin gene locus: duplicated functional genes and a newly detected member of the primate alpha-globin gene family. Proc Natl Acad Sci U S A 1986 Mar;83(5):1413-7.
          doi: 10.1073/pnas.83.5.1413pubmed: 3456594google scholar: lookup
        3. Gonzalez-Redondo JM, Han IS, Gu YC, Huisman TH. Nucleotide sequence of the human theta 1-globin gene. Biochem Genet 1988 Apr;26(3-4):207-11.
          doi: 10.1007/BF00561460pubmed: 3408475google scholar: lookup
        4. Giardina B, Brix O, Clementi ME, Scatena R, Nicoletti B, Cicchetti R, Argentin G, Condo SG. Differences between horse and human haemoglobins in effects of organic and inorganic anions on oxygen binding. Biochem J 1990 Mar 15;266(3):897-900.
          pubmed: 2327974
        5. Di Luccia A, Iannibelli L, Ferranti P, Manca L, Masala B, Ferrara L. Electrophoretic and chromatographic evidence for allelic polymorphisms in the river buffalo alpha-globin gene complex. Biochem Genet 1991 Oct;29(9-10):421-30.
          pubmed: 1772399
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