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What is behavioral genetics? Sir Francis Galton (1822-1911) was the first scientist to study heredity and human behavior systematically. The term "genetics" did not even appear until 1909, only 2 years before Galton's death. With or without a formal name, the study of heredity always has been, at its core, the study of biological variation. Human behavioral genetics, a relatively new field, seeks to understand both the genetic and environmental contributions to individual variations in human behavior. This is not an easy task, for the following reasons.
How is behavioral genetics studied? Traditional research strategies in behavioral genetics include studies of twins and adoptees, techniques designed to sort biological from environmental influences. More recently, investigators have added the search for pieces of DNA associated with particular behaviors, an approach that has been most productive to date in identifying potential locations for genes associated with major mental illnesses such as schizophrenia and bipolar disorder. Yet even here there have been no major breakthroughs, no clearly identified genes that geneticists can tie to disease. The search for genes associated with characteristics such as sexual preference and basic personality traits has been even more frustrating. Genetics and molecular biology have provided some significant insights into behaviors associated with inherited disorders. For example, we know that an extra chromosome 21 is associated with the mental retardation that accompanies Down's syndrome, although the processes that disrupt brain function are not yet clear. We also know the steps from gene to effect for a number of single-gene disorders that result in mental retardation, including phenylketonuria (PKU), a treatable metabolic disorder for which all newborns in the United States are tested. In general, it is easier to discern the relationship between biology and behavior for chromosomal and single-gene disorders than for common, complex behaviors that are of considerable interest to specialist and nonspecialist alike. So the former are at the more informative end of a sliding scale of certainty with respect to our understanding of human behavior. At the other end of the scale are the hard-to-define personality traits, while somewhere in between are traits such as schizophrenia and bipolar disorder—organic diseases whose biological roots are undeniable yet unknown and whose unpredictable onset teaches us about the importance of environmental contributions, even as it reminds us of our ignorance. What implications does behavioral genetics
research have for society? Researchers in the field of behavioral genetics have asserted claims for a genetic basis of numerous physical behaviors, including homosexuality, aggression, impulsivity, and nurturing. A growing scientific and popular focus on genes and behavior has contributed to a resurgence of behavioral genetic determinism—the belief that genetics is the major factor in determining behavior. Are behaviors inbred, written indelibly in our genes as immutable biological imperatives, or is the environment more important in shaping our thoughts and actions? Such questions cycle through society repeatedly, forming the public nexus of the "nature vs. nurture controversy," a strange locution to biologists, who recognize that behaviors exist only in the context of environmental influence. Nonetheless, the debate flares anew every few years, reigniting in response to genetic analyses of traits such as intelligence, criminality, or homosexuality, characteristics freighted with social, political, and legal meaning. What social consequences would genetic diagnoses of such traits as intelligence, criminality, or homosexuality have on society? What effect would the discovery of a behavioral trait associated with increased criminal activity have on our legal system? If we find a "gay gene," will it mean greater or lesser tolerance? Will it lead to proposals that those affected by the "disorder" should undergo treatment to be "cured" and that measures should be taken to prevent the birth of other individuals so afflicted? There are several scientific obstacles to correlating genotype (an individual's genetic endowment) and behavior. One problem is in defining a specific endpoint that characterizes a condition, be it schizophrenia or intelligence. Another problem is in identifying and excluding other possible causes of the condition, thereby permitting a determination of the significance of a supposed correlation. Much current research on genes and behavior also engenders very strong feelings because of the potential social and political consequences of accepting these supposed truths. Thus, more than any other aspect of genetics, discoveries in behavioral genetics should not be viewed as irrefutable until there has been substantial scientific corroboration. How do genes influence behavior? No single gene determines a particular behavior. Behaviors are complex traits involving multiple genes that are affected by a variety of other factors. This fact often gets overlooked in media reports hyping scientific breakthroughs on gene function, and, unfortunately, this can be very misleading to the public. For example, a study published in 1999 claimed that overexpression of a particular gene in mice led to enhanced learning capacity. The popular press referred to this gene as "the learning gene" or the "smart gene." What the press didn't mention was that the learning enhancements observed in this study were short-term, lasting only a few hours to a few days in some cases. Dubbing a gene as a "smart gene" gives the public a false impression of how much scientists really know about the genetics of a complex trait like intelligence. Once news of the "smart gene" reaches the public, suddenly there is talk about designer babies and the potential of genetically engineering embryos to have intelligence and other desirable traits, when in reality the path from genes to proteins to development of a particular trait is still a mystery. With disorders, behaviors, or any physical trait, genes are just a part of the story, because a variety of genetic and environmental factors are involved in the development of any trait. Having a genetic variant doesn't necessarily mean that a particular trait will develop. The presence of certain genetic factors can enhance or repress other genetic factors. Genes are turned on and off, and other factors may be keeping a gene from being turned "on." In addition, the protein encoded by a gene can be modified in ways that can affect its ability to carry out its normal cellular function. Genetic factors also can influence the role of certain environmental factors in the development of a particular trait. For example, a person may have a genetic variant that is know to increase his or her risk for developing emphysema from smoking, an environmental factor. If that person never smokes, then emphysema will not develop. Where can I learn more about the genetics of different behavioral traits? Online Mendelian Inheritance in Man (OMIM) is a large, searchable, up-to-date database of human genes, genetic traits, and disorders. Each OMIM record contains bibliographic references and a summary of the scientific literature describing what is known about a particular gene, trait, or disorder. The following behavioral traits are included in OMIM. The six-digit number MIM number is used to uniquely identify each record.
You also may want to search OMIM for behavioral traits not included in the list above. For step-by-step instructions, see our OMIM Search Tutorial. For more detailed information, review the Help and FAQs pages. For information on other databases of human genes, see the Gene and Protein Database Guide available through Gene Gateway. General Information
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Last modified: Friday, September 17, 2004
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