Phyllis J. McAlpine, Ph.D., 1941–98: In Memoriam

Abstract

The human genetics and genomics communities lost one of their major contributors on October 1, 1998. Phyllis J. McAlpine, Ph.D., was a tireless and skilled researcher and scholar whose standard for excellence earned her the highest respect from her peers, colleagues, collaborators, and friends worldwide. At the time of her death, Phyllis McAlpine was chair of the Department of Human Genetics at the University of Winnipeg, Winnipeg, Manitoba (1993–98). She was Chair of the Human Gene Nomenclature Committee of the Human Genome Organization; member, since 1965, of The American Society of Human Genetics; member, since its inception, of the Human Genome Organization; member of numerous national and international committees and editorial boards of journals; and author of more than 90 publications on biochemical genetics, gene mapping, and gene nomenclature. In addition, Phyllis played a major role in the promotion of human genetics not only in Canada, where she was born, but worldwide. She was president of the Genetics Society of Canada in 1995 and was actively involved in advisory boards and committees at the University of Manitoba. In 1998, she was awarded the Canadian College of Medical Genetics Founders Award, for her many contributions to genetics. One of Phyllis's great strengths was the importance she placed on supporting and promoting other people for awards and honors. She was particularly committed to helping women in science, where it is often difficult to get recognition as a female. She was a mentor to many students and scientists and to those in leadership positions. She came from a tradition of mentoring by women in science: first as a student of Dr. Helen Battle, at the University of Western Ontario, where Phyllis was a gold medalist undergraduate student; then as a graduate student of Dr. Margaret Thompson, at the University of Toronto; and finally as a postdoctoral fellow of Dr. Nancy Simpson, at Queens University in Kingston. Phyllis graduated with an M.Sc. in human genetics from Toronto and then developed her interest in human biochemical genetics with Harry Harris at the Galton Laboratory in London. Her Ph.D. thesis in 1969 concerned the biochemical genetics of the inherited variants of phosphoglucomutase, and her awareness of the problems of gene nomenclature probably dated from this time. In early 1970, Phyllis took part in the International Biologic Circumpolar Project, a major project to profile the health and genetic variation of all peoples of the Arctic regions, and she and Dr. Simpson spent one winter month living in the Inuit community in the Arctic. Phyllis next obtained a faculty position at the University of Winnipeg, where, with John Hamerton, she made many contributions to the human gene map through work on somatic cell hybrids. She also performed extensive mapping studies, with Marion Lewis and Penny Alderdice, on Newfoundland kindreds. Phyllis carried out a strong independent research program in the mapping of human genes, long before this became popular and before the Human Genome Project. In those years, the major event for those rare people, human gene mappers, was the biennial Human Gene Mapping Workshop, and Phyllis was one of a select few who attended every single workshop since the first one at Yale in 1973. Guidelines on human gene nomenclature were first proposed by a committee chaired by Eloise Giblett in 1975. At the Winnipeg Human Gene Mapping Conference in 1977, the first permanent human gene nomenclature committee was approved. Phyllis was on the founding committee and served until 1996, nearly 20 years, with passion and commitment. She soon became the undisputed authority on human gene nomenclature and was chair of the committee in 1988. She devoted countless hours and much of her energy to formulating guidelines and carrying out the naming of the many human genes as they were described. It was under her care that human gene nomenclature became a single language and not dialects. Her objective, however, was not to arbitrate symbols but to persuade communities of workers in each field to agree on a standard nomenclature, a task that continues today. For this enormous contribution, the human genetics community has her to thank for maintaining and promoting a standard gene nomenclature officially adopted by the Human Genome Organization and used by the major genetics journals. Significantly, the human gene nomenclature guidelines have become a model for genetic nomenclature for many organisms. She has left all of us an important legacy. In 1996, she was honored for her contributions and commitment to human gene nomenclature, at a special presentation in Heidelberg, Germany, at a Human Genome Organization meeting. We will remember, with fondness and respect, the talent, energy, leadership, contributions, and kindness that Professor McAlpine gave to the human genetics community worldwide.