Hemoglobin Istanbul: Substitution of Glutamine for Histidine in a Proximal Histidine (F8(92) )

Overview

Journal J Clin Invest

Specialty General Medicine

Date 1972 Sep 1

PMID 4639022

Citations 4

Authors

M Aksoy

S Erdem

G D Efremov

J B Wilson

T H HUISMAN

W A Schroeder

J R Shelton

J B Shelton

O N Ulitin

A Muftuoglu

Affiliations

Soon will be listed here.

Abstract

A presumably spontaneous mutation has resulted in the formation of Hemoglobin (Hb) Istanbul in which glutamine is substituted for histidine in the proximal position of the beta-chain (F8(92)). The anemia and other physiological effects that occur in the presence of Hb Istanbul were much ameliorated by splenectomy. Hb Istanbul is a relatively unstable molecule which produces a rather moderate case of "unstable hemoglobin hemolytic anemia."In the determination of structure, a method of preferential cleavage of an aspartyl-proline bond at residues 99-100 of the beta-chain was used.

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References

Schroeder W, Robberson B . An improved gradient for ion exchange chromatography of peptides on Dowex-1. Anal Chem. 1965; 37(12):1583-5. DOI: 10.1021/ac60231a036. View

Andrews P . Estimation of the molecular weights of proteins by Sephadex gel-filtration. Biochem J. 1964; 91(2):222-33. PMC: 1202876. DOI: 10.1042/bj0910222. View

HUISMAN T, DOZY A . Studies on the heterogeneity of hemoglobin. IX. The use of Tris(hydroxymethyl)aminomethanehcl buffers in the anion-exchange chromatography of hemoglobins. J Chromatogr. 1965; 19(1):160-9. DOI: 10.1016/s0021-9673(01)99434-8. View

Andrews P . The gel-filtration behaviour of proteins related to their molecular weights over a wide range. Biochem J. 1965; 96(3):595-606. PMC: 1207193. DOI: 10.1042/bj0960595. View

Aksoy M, Erdem S . A simple method for the quantitation of haemoglobin-A2 by starch gel electrophoresis. Clin Chim Acta. 1965; 12(6):696-8. DOI: 10.1016/0009-8981(65)90152-x. View

RAFTERY M, Cole R . On the aminoethylation of proteins. J Biol Chem. 1966; 241(15):3457-61. View

BABIN D, Schroeder W, Shelton J, Shelton J, Robberson B . The amino acid sequence of the gamma chain of bovine fetal hemoglobin. Biochemistry. 1966; 5(4):1297-310. DOI: 10.1021/bi00868a025. View

Clegg J, Naughton M, Weatherball D . Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok). J Mol Biol. 1966; 19(1):91-108. DOI: 10.1016/s0022-2836(66)80052-9. View

Bonaventura J, Riggs A . Hemoglobin Kansas, a human hemoglobin with a neutral amino acid substitution and an abnormal oxygen equilibrium. J Biol Chem. 1968; 243(5):980-91. View

10.

DOZY A, Kleihauer E, HUISMAN T . Studies on the heterogeneity of hemoglobin. 13. Chromatography of various human and animal hemoglobin types on DEAE-Sephadex. J Chromatogr. 1968; 32(4):723-7. DOI: 10.1016/s0021-9673(01)80551-3. View

11.

Perutz M, MUIRHEAD H, Cox J, Goaman L . Three-dimensional Fourier synthesis of horse oxyhaemoglobin at 2.8 A resolution: the atomic model. Nature. 1968; 219(5150):131-9. DOI: 10.1038/219131a0. View

12.

Schroeder W, HUISMAN T, Shelton J, Shelton J, Kleihauer E, DOZY A . Evidence for multiple structural genes for the gamma chain of human fetal hemoglobin. Proc Natl Acad Sci U S A. 1968; 60(2):537-44. PMC: 225081. DOI: 10.1073/pnas.60.2.537. View

13.

Carrell R, Lehmann H . The unstable haemoglobin haemolytic anaemias. Semin Hematol. 1969; 6(2):116-32. View

14.

Efremov G, HUISMAN T, Smith L, Wilson J, Kitchens J, Wrightstone R . Hemoglobin Richmond, a human hemoglobin which forms asymmetric hybrids with other hemoglobins. J Biol Chem. 1969; 244(22):6105-16. View

15.

Smith L, BARTON B, HUISMAN T . Subunit dissociation of the unstable hemoglobin Bibba (alpha 2-136Pro(H19)beta 2). J Biol Chem. 1970; 245(8):2185-8. View

16.

Schroeder W, HUISMAN T, Shelton J, Wilson J . An improved method for quantitative determination of human fetal hemoglobin. Anal Biochem. 1970; 35(1):235-43. DOI: 10.1016/0003-2697(70)90030-8. View

17.

HUISMAN T, Brown A, Efremov G, Wilson J, Reynolds C, Uy R . Hemoglobin Savannah (B6(24) beta-glycine is greater than valine): an unstable variant causing anemia with inclusion bodies. J Clin Invest. 1971; 50(3):650-9. PMC: 291973. DOI: 10.1172/JCI106535. View

18.

Piszkiewicz D, Landon M, Smith E . Anomalous cleavage of aspartyl-proline peptide bonds during amino acid sequence determinations. Biochem Biophys Res Commun. 1970; 40(5):1173-8. DOI: 10.1016/0006-291x(70)90918-6. View

19.

BALDRIDGE R, Lewis H . Diet and the ergothioneine content of blood. J Biol Chem. 1953; 202(1):169-76. View

20.

Grimes A, MEISLER A, Dacie J . CONGENITAL HEINZ-BODY ANAEMIA. FURTHER EVIDENCE ON THE CAUSE OF HEINZ-BODY PRODUCTION IN RED CELLS. Br J Haematol. 1964; 10:281-90. DOI: 10.1111/j.1365-2141.1964.tb00704.x. View