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Philip L. Cohen, M.D.
University of North Carolina
Chapel Hill, NC 27599-7280
References
Richard M. Caplan, M.D.
University of Iowa
Iowa City, IA 52242-1101
In the first paragraphs, there are several incorrect or misleading statements that, though introductory and historical, should be clarified. The first application of Mendel's principles to a disease in humans, alkaptonuria, was reported by Archibald Garrod in 1902, though he did receive suggestions from William Bateson. The last name of C.M. MacLeod, a collaborator in Avery's work in 1944, is spelled incorrectly in the article. Finally, though Barbara McClintock undoubtedly first discovered transposition, she did not give it that name; she called the transposable genes "controlling elements."
I am aware that these remarks do not change the essential content of the article, but I think the readers of the Journal deserve a proper correction or clarification.
Martin Roubicek, M.D
Universidad Nacional de Mar del Plata
7600 Mar del Plata, Argentina
References
To the Editor: I used the terms "crossing over" and "translocation" to introduce the idea of jumping genes, because both mechanisms move genetic elements from one chromosomal location to another by means of breakage and joining of DNA strands. I deliberately called crossing over "a kind of gene shuffling" to signal its distinction from "jumping gene" and "transposition."
Dr. Roubicek probably refers to my examples of the Philadelphia chromosome, which I called a reciprocal translocation, and the myc translocation, which I referred to as the t(8;14) translocation. I did not mean to imply that the myc translocation is not reciprocal. Limited space allowed only a brief mention of myc.
Garrod's discovery of alkaptonuria is well known, as Dr. Roubicek points out. Nevertheless, as I stated in my article, Bateson did apply Mendel's laws to an analysis of the disease. The Cambridge World History of Human Disease gives a good summary of Bateson's pioneering role in the genetics of alkaptonuria.1
According to Barbara McClintock's biographer, Evelyn Fox Keller, McClintock did use the term "transposition." Keller states in her book, "These two facts together suggested transposition a term and concept McClintock introduced publicly for the first time in 1948."2
I mistakenly located the fly room at the California Institute of Technology because McClintock worked in Morgan's laboratory at the institute in the winter of 19311932.
As for the rest, mea culpa.
Robert S. Schwartz, M.D.
References
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