He was also among the first scientists to identify X-inactivation as the genetic basis of tissue mosaicism in female mammals, and pioneered a number of medical treatments, including bone marrow transplantation techniques.
The second of three children, Beutler was preceded by an older brother, Frederick (b. October 3, 1926, later a professor of mathematics at the University of Michigan), and followed by a younger sister, Ruth (b. November 23, 1932, later a clinical psychologist; d. July 14, 1993).
He completed his undergraduate, medical school and residency training at the University of Chicago, receiving his doctorate in medicine in 1950 at the age of 21.
Beutler pursued a remarkably eclectic research career, and made fundamental contributions in many different areas of science over 56 years of active publication.
[3] This work, carried out during his residency in the laboratory of Leon O. Jacobson, was aimed at the development of an assay for a humoral radioprotective factor, and reflected a chance observation.
In the course of his work, he identified glucose-6-phosphate dehydrogenase (G-6-PD) deficiency as a genetic defect that leads to the lysis of red blood cells under conditions of oxidative stress.
A new colleague at the City of Hope and ultimately a lifelong friend, Susumu Ohno had recently demonstrated that the histologically observable Barr body present in the nuclei of mammalian female cells was a hyperchromatic X chromosome.
He soon determined that random X chromosome inactivation causes tissue mosaicism in female mammals, in that each somatic cell expresses one (but not both) of the alleles of X-linked genes with which it is endowed.
[10] Mary F. Lyon independently hypothesized that variegated coat colors in mice might arise from random X chromosome inactivation.
[22] Beginning in the mid-1990s, Beutler attempted to positionally clone the mutation responsible for the common adult-onset form of hereditary hemochromatosis.
[23] However, in contrast to the reports of others, he found that only about 2% of males and no females homozygous for the mutation showed severe clinical manifestations of the disease.
He was also elected to the United States National Academy of Sciences and was presented with the inaugural Award for Lifetime Achievement from The American Society of Hematology.