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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.
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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.

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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

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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
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Citations to this article in year 2010 (1)

Title and authors Publication Year
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

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Referenced in 6 patents
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