Absolute pitch (AP), also known as perfect pitch, is defined as the rare ability to identify the pitch of a tone without a reference tone. This savant-like faculty is effortless, instantaneous, and seemingly innate. While early musical exposure correlates with the development of AP, musical training is insufficient in itself for its genesis. This observation, together with the discovery of familial clustering of AP in studies controlled for early musical training, strongly supports a genetic predisposition for the presentation of AP. The long-term goal of this project is to find the gene(s) of major influence on the acquisition of AP and to understand their interaction with the environment to produce this cognitive trait. In the current study, subjects will be recruited for participation via the study Web site http://perfectpitch.ucsf.edu where they will complete a survey concerning demographic, musical background, family history information and will take an online note-naming test. Subjects and their relatives who prove to have AP by exceeding a threshold score on the note-naming test will be invited to participate further in the study by providing a DNA sample for use in a genome-wide genetic mapping study and, eventually, for discovery of a gene(s) and its variants that underlie AP. The merit of the proposed study lies in the use of a powerful genetic approach to unmask the molecular basis for a complex behavioral trait and thereby to provide fundamental insights into a well-defined cognitive and neurodevelopmental question.
This project will lead to the discovery of genes that influence the development of a uncanny perceptual ability called absolute pitch, also known as perfect pitch. The broader impact of this study lies in its relevance as a paradigm for learning behaviors that depend upon the intersection of environmental exposure and neurodevelopment. Theories on language acquisition in humans may be particularly impacted by the proposed study. Moreover, conclusions from this study may provide important insights and testable hypotheses into the evolution of communication in other species. The study also broadly impacts the opportunity for training graduate students and post-doctoral fellows at UCSF, as well as undergraduate students at UC Berkeley and under-represented minorities through the UCSF Summer Research Training Program. The study also serves as a model for highly effective Web-based recruitment of ethnically diverse individuals in perceptual studies, and provides an exciting opportunity for public dissemination of ideas and communication between scientists and musicians.
