Structural characterizations of hemoglobins J-Buda [α 61 (E 10) Lys→Asn] and G-pest [α 74 (EF 3) Asp→Asn]

Bernadine Brimhall, Marie Duerst, Susan R. Hollán, Peter Stenzel, Judith Szelényi, Richard T. Jones

Research output: Contribution to journalArticle

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Abstract

Two new mutant hemoglobins, each with abnormal α-chains, have been found along with normal adult hemoglobin in three brothers of a Hungarian family. Preliminary identification of the abnormal chains and genetic studies have been reported earlier (Hollán, S. R., Szelenyi, J. G., Brimhall, B., Duerst, M., Jones, R. T. Koler, R. D. and Stocklen, Z. (1972) Nature 235, 47-50). The present paper reports the structural characterizations of the two abnormal α-chains found in affected members of this family and of the normal α-chain from one of the brothers who also had the two abnormal hemoglobins. One abnormal hemoglobin, named J-Buda, has a substitution of an asparaginyl residue for the lysyl residue 61 (E 10) of its α-chain. The second abnormal hemoglobin, named G-Pest, has an asparaginyl residue for the aspartyl residue 74 (EF 3) of its α-chain. The amino acid compositions of all of the other tryptic peptides of the abnormal α-chains and of all of the tryptic peptides of the normal α-chain from one of the affected brothers were identical to compositions reported for tryptic peptides of normal human α-chains. We conclude that except for the substitution of single amino acid residues in the two abnormal α-chains, the compositions and probably the sequences of amino acid residues of the four gene products from two α-chain loci are identical, at least in this Hungarian family.

Original languageEnglish (US)
Pages (from-to)344-360
Number of pages17
JournalBBA - Protein Structure
Volume336
Issue number2
DOIs
StatePublished - Feb 14 1974
Externally publishedYes

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Abnormal Hemoglobins
Siblings
Amino Acids
Peptides
Hemoglobins
Substitution reactions
Chemical analysis
Amino Acid Substitution
Amino Acid Sequence
Genes
hemoglobin J-Buda
E 10

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Structural characterizations of hemoglobins J-Buda [α 61 (E 10) Lys→Asn] and G-pest [α 74 (EF 3) Asp→Asn]. / Brimhall, Bernadine; Duerst, Marie; Hollán, Susan R.; Stenzel, Peter; Szelényi, Judith; Jones, Richard T.

In: BBA - Protein Structure, Vol. 336, No. 2, 14.02.1974, p. 344-360.

Research output: Contribution to journalArticle

Brimhall, Bernadine ; Duerst, Marie ; Hollán, Susan R. ; Stenzel, Peter ; Szelényi, Judith ; Jones, Richard T. / Structural characterizations of hemoglobins J-Buda [α 61 (E 10) Lys→Asn] and G-pest [α 74 (EF 3) Asp→Asn]. In: BBA - Protein Structure. 1974 ; Vol. 336, No. 2. pp. 344-360.
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abstract = "Two new mutant hemoglobins, each with abnormal α-chains, have been found along with normal adult hemoglobin in three brothers of a Hungarian family. Preliminary identification of the abnormal chains and genetic studies have been reported earlier (Holl{\'a}n, S. R., Szelenyi, J. G., Brimhall, B., Duerst, M., Jones, R. T. Koler, R. D. and Stocklen, Z. (1972) Nature 235, 47-50). The present paper reports the structural characterizations of the two abnormal α-chains found in affected members of this family and of the normal α-chain from one of the brothers who also had the two abnormal hemoglobins. One abnormal hemoglobin, named J-Buda, has a substitution of an asparaginyl residue for the lysyl residue 61 (E 10) of its α-chain. The second abnormal hemoglobin, named G-Pest, has an asparaginyl residue for the aspartyl residue 74 (EF 3) of its α-chain. The amino acid compositions of all of the other tryptic peptides of the abnormal α-chains and of all of the tryptic peptides of the normal α-chain from one of the affected brothers were identical to compositions reported for tryptic peptides of normal human α-chains. We conclude that except for the substitution of single amino acid residues in the two abnormal α-chains, the compositions and probably the sequences of amino acid residues of the four gene products from two α-chain loci are identical, at least in this Hungarian family.",
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