Citations to this article

Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain.
R M Winslow, … , R R Buchman, W F Anderson
R M Winslow, … , R R Buchman, W F Anderson
Published March 1, 1976
Citation Information: J Clin Invest. 1976;57(3):772-781. https://doi.org/10.1172/JCI108336.
View: Text | PDF
Research Article Article has an altmetric score of 3

Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain.

Abstract

The first example of the premature termination of a polypeptide chain in man appears to be Hb McKees Rocks, beta145 Tyr leads to Term, discovered in polycythemic members of a Caucasian family. Point mutation has apparently occurred at the codon for Tyr beta145 from UAU to a "nonsense" codon, UAA or UAG, resulting in a shortened polypeptide chain with Lys 144 as its carboxyl-terminal amino acid. Evidence for this structural conclusion is the absence of tryptic peptide betaT-15 from "fingerprints" of the abnormal beta-chain, the finding of C-terminal Lys, and the similarity between the functional properties of this variant hemoglobin and those of des Tyr (145)-His(146)beta hemoglobin resulting from carboxypeptidase-A digestion of normal human hemoglobin. Hb McKees Rocks has markedly abnormal properties: its oxygen affinity is the highest of the human variants described to date; its Bohr effect is reduced; it is devoid of subunit cooperativity; and it is unaffected by 2,3-diphosphoglyceric acid. These properties are probably the consequences of decreased stability of the T quaternary conformation and are partially restored in the presence of the strong allosteric effector inositol hexaphosphate.

Authors

R M Winslow, M L Swenberg, E Gross, P A Chervenick, R R Buchman, W F Anderson

×

Total citations by year

Year: 2019 2017 2010 2006 2005 2003 2000 1999 1997 1994 1993 1992 1990 1989 1988 1987 1986 1984 1983 1982 1981 1979 1978 1977 Total
Citations: 1 1 1 1 2 1 1 2 2 2 2 1 2 1 4 1 1 3 1 1 2 1 2 2 38
Citation information

Citations to this article (38)

Title and authors Publication Year
Genetic basis of unexplained erythrocytosis in Indian patients
N Mallik, P Sharma, JK Hira, S Chhabra, S Sreedharanunni, N Kumar, S Naseem, MU Sachdeva, J Ahluwalia, P Malhotra, N Varma, S Varma, R Das 		European Journal of Haematology 2019
Reversible Ligand Binding: Theory and Experiment
A Bellelli, J Carey 		2017
Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A New High Oxygen Affinity Variant
JL Oliveira, K Swanson, P Wendt, TD Caughey, JD Hoyer 		Hemoglobin 2010
Detection and characterization of variant and modified structures of proteins in blood and tissues by mass spectrometry
A Shimizu, T Nakanishi, A Miyazaki 		Mass Spectrometry Reviews 2006
Hb Kochi [β141(H19)Leu→Val (g.1404 C→G); 144–146(HC1-3)Lys-Tyr-His→0 (g.1413 A→T)]: A New Variant with Increased Oxygen Affinity
A Miyazaki, T Nakanishi, A Shimizu, M Mizobuchi, Y Yamada, K Imai 		Hemoglobin 2005
Artificial Oxygen Carrier
K Kobayashi, E Tsuchida, H Horinouchi 		2005
Hb Trento: An Elongated C‐Terminal β Chain Due to a New Frameshift Mutation [β144 (−A)]
G Ivaldi, O David, M Baffico, D Leone, M Baldi, MI Parodi, V ScimèDegani, A Piga, P Scagni, E RabinoMassa, G Ricco 		Hemoglobin 2003
A Targeted Apolipoprotein B-38.9-producing Mutation Causes Fatty Livers in Mice Due to the Reduced Ability of Apolipoprotein B-38.9 to Transport Triglycerides
Z Chen, RL Fitzgerald, MR Averna, G Schonfeld 		The Journal of biological chemistry 2000
Hb Bologna-St. Orsola [β146(HC3)His→Tyr]: a New High Oxygen Affinity Variant with Halved Bohr Effect and Highly Reduced Reactivity Towards 2,3-Diphosphoglycerate
G Ivaldi, O David, V Paradossi, M Baffico, VS Degani, D Leone, M Baldi, MI Parodi, P Bernardi, G Ricco 		Hemoglobin 1999
Molecular bases of low production rates of apolipoprotein B-100 and truncated apoB-82 in a mutant HepG2 cell line generated by targeted modification of the apolipoprotein B gene
RA Srivastava, N Srivastava, M Averna, AB Cefalu, G Schonfeld 		Journal of lipid research 1999
International Hemoglobin Information Center Variant List
MF Carver, TH Huisman 		Hemoglobin 1997
HB Osler [β145(HC2)TYRàASP] Results from Posttranslational Modification
AC Kattamis, KM Kelly, K Ohene-Frempong, MP Reilly, M Keller, R Cubeddu, K Adachi, S Surrey, P Fortina 		Hemoglobin 1997
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen
MC Willing, SP Deschenes, DA Scott, PH Byers, RL Slayton, SH Pitts, H Arikat, EJ Roberts 		The American Journal of Human Genetics 1994
Role of alpha and beta carboxyl-terminal residues in the kinetics of human oxyhemoglobin dimer assembly
AA Joshi, MJ McDonald 		The Journal of biological chemistry 1994
Human Gene Mutations Affecting RNA Processing and Translation
DN Cooper 		Annals of Medicine 1993
Effects of intra- and intersubunit hydrogen bonds on the R-T transition in human hemoglobin as studied with .alpha.42(C7) and .beta.145(HC2) mutations
A Togi, K Ishimori, M Unno, T Konno, I Morishima, G Miyazaki, K Imai 		Biochemistry 1993
Site-directed mutagenesis in hemoglobin: functional and structural role of inter- and intrasubunit hydrogen bonds as studied with 37.beta. and 145.beta. mutations
K Ishimori, K Imai, G Miyazaki, T Kitagawa, Y Wada, H Morimoto, I Morishima 		Biochemistry 1992
Isolation and characterization of the translation product of a β-globin gene nonsense mutation (β121 GAA→TAA)
JG Adams, MH Steinberg, HH Kazazian 		British Journal of Haematology 1990
New Results of Hemoglobin Variant Structure Determinats by Fast Atom Bombardment Mass Spectrometry
C Lacombe, D Prome, Y Blouquit, J Bardakdjian, N Arous, A Mrad, JC Prome, J Rosa 		Hemoglobin 1990
Structure-Function Relationships in Hemoglobin Kariya, Lys-40(C5)α → Glu, with High Oxygen Affinity
K Imai, A Tsuneshige, T Harano, K Harano 		The Journal of biological chemistry 1989
Identification of some abnormal haemoglobins by fast atom bombardment mass spectrometry and fast atom bombardment tandem mass spectrometry
D Prome, JC Prome, F Pratbernou, Y Blouquit, F Galacteros, C Lacombe, J Rosa, JD Robinson 		Biological Mass Spectrometry 1988
The First Sequenced Normal Hemoglobin Lacking Histidine in Position 146 of the β-Chains. The Primary Structures of the Major and Minor Hemoglobin Components of the Great Crested Newt(Triturus cristatus,Urodela, Amphibia)
T KLEINSCHMIDT, JG SGOUROS, G BRAUNITZER 		Biological Chemistry Hoppe-Seyler 1988
Nonsense mutations in the human beta-globin gene affect mRNA metabolism
SJ Baserga, EJ Benz 		Proceedings of the National Academy of Sciences 1988
Hb Natal or α2(minus Tyr-Arg)β2: A high oxygen affinity α chain variant with a deleted carboxy-terminus resulting from a TAC → TAA (Tyr → terminating codon) mutation in codon α140
VB Jogessar, K Westermeyer, BB Webber, JB Wilson, H Hu, JM Gonzalez-Redondo, A Kutlar, TH Huisman 		Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression 1988
Development of an anti-idiotypic antibody that blocks substance P primary antibodies and substance P membrane binding
ML Swenberg, SH Buck, W Lovenberg 		Brain Research 1987
Reverse Phase High-Performance Liquid Chromatography and Secondary Ion Mass Spectrometry. A Strategy for Identification of Ten Human Hemoglobin Variants
S Rahbar, TD Lee, JA Baker, LT Rabinowitz, Y Asmerom, K Legesse, HM Ranney 		Hemoglobin 1986
Proton nuclear magnetic resonance investigation of crosslinked asymmetrically modified hemoglobins: influence of the salt bridges on tertiary and quaternary structures of hemoglobin
S Miura, C Ho 		Biochemistry 1984
Bibliographic Atlas of Protein Spectra in the Ultraviolet and Visible Regions
DM Kirschenbaum 		1984
Involvement of His HC3 (146) beta in the Bohr effect of human hemoglobin. Studies of native and N-ethylmaleimide-treated hemoglobin A and hemoglobin Cowtown (beta 146 His replaced by Leu)
T Shih, RT Jones, J Bonaventura, C Bonaventura, RG Schneider 		The Journal of biological chemistry 1984
A Second Case of Hemoglobin McKees Rocks (β145 Tyr → Term). A Variant with Premature Termination of the β-Chain
S Rahbar, C Rea, K Blume, D Seltzer, R Feiner 		Hemoglobin 1983
A proton nuclear magnetic resonance investigation of proximal histidyl residues in human normal and abnormal hemoglobins. A probe for the heme pocket
S Takahashi, AK Lin, C Ho 		Biophysical Journal 1982
Functional abnormalities of hemoglobin Toyoake (142 (H20)β, Ala → Pro)
K Imai, Y Yoshioka, I Tyuma, M Hirano 		Biochimica et Biophysica Acta (BBA) - Protein Structure 1981
Genetic Engineering
P Little 		Genetic Engineering 1981
Abnormal Hemoglobins Caused by Deletions: A Review
LN Went 		Hemoglobin 1979
Proton nuclear magnetic resonance studies of hemoglobins Osler (β145HC2 Tyr → Asp) and McKees Rocks (β145HC2 Tyr →Term): an assignment for an important tertiary structural probe in hemoglobin
G Viggiano, KJ Wiechelman, PA Chervenick, C Ho 		Biochemistry 1978
Oxygen Transport to Tissue — III
IA Silver, M Erecińska, HI Bicher 		1978
POLYCYTHAEMIA AND HIGH AFFINITY HAEMOGLOBINS
AD Stephens 		British Journal of Haematology 1977
Regulation of Hemoglobin Synthesis during the Development of the Red Cell
AW Nienhuis, EJ Benz 		New England Journal of Medicine 1977

Advertisement