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Letters to Nature
Nature 214, 499 (29 April 1967); doi:10.1038/214499a0

Amino-acid Substitution in Haemoglobin I (Texas Variant)


The Genetics Foundation, University of Texas.
*Present address: The Rockefeller University, New York, New York.

AN electrophoretically fast genetic variant of adult haemoglobin was described in six members of a Negro family living in Texas by Thompson et al. in 1963 (ref. 1). Fingerprints of the purified haemoglobin established the identity of this variant with haemoglobin I previously described by Murayama and Ingram2, in which the third tryptic peptide from the N-terminus of the α chain contained an amino-acid alteration responsible for the rapid electrophoretic migration of the intact haemoglobin. Lysine, which is the sixteenth residue, had been replaced in haemoglobin I by an acidic amino-acid. The substitution was described in both I variants from Texas1 and Philadelphia3 as being lysine to aspartic acid; however, recent elucidation of the genetic code has eliminated the substitution lysright arrowasp from the class of mutations which could result from alteration of a single nucleotide base in the triplet code4. A nucleotide triplet coding for lysine (AAA or AAG) could not be altered in a single base so that it would specify aspartic acid (GAU or GAC). This led Beale and Lehmann5 to re-examine the I variant from Philadelphia. Their findings established the substitution to be lysright arrowglu, which is in agreement with an alteration in a single nucleotide (AAA or AAG to GAA or GAG).

  1. Thompson, O. L. , Moreland, H. J. , Smith, G. W. , Bowman, B. H. , Alexender, M. J. , and Schneider, R. G. , Blood, 22, 313 (1963). | PubMed | ISI | ChemPort |
  2. Murayama, M. , and Ingram, V. M. , Nature, 183, 1798 (1959). | PubMed | ISI | ChemPort |
  3. Murayama, M. , Fed. Proc., 19, 78 (1960). | ISI |
  4. Nirenberg, M. , Leder, P. , Bernfield, M. , Brimacombe, R. , Trupin, J. , Rottman, F. , and O'Neal, C. , Proc. U.S. Nat. Acad. Sci., 53, 1161 (1965). | ChemPort |
  5. Beale, D. , and Lehmann, H. , Nature, 207, 259 (1965). | Article | PubMed | ISI | ChemPort |

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