Perfect pitch study offers window into influences of nature and nurture

Practice, practice, practice might get you to Carnegie Hall, but for aspiring musicians, there's new evidence that genes may influence one's ability to get there, as well.

Perfect pitch, also known as absolute pitch, is the rare ability to recognize and name musical notes without any reference pitch for comparison, detecting, for instance, A before middle C. The rarity of the aptitude contrasts with the common ability to immediately recognize and name colors, distinguishing pink from red or azure from blue.

In the July 2 online posting of "American Journal of Human Genetics," UCSF scientists report that they identified a particular region of genes on human chromosome eight that is linked to perfect pitch, at least in people of European ancestry. The next step, they say, is to identify a specific gene.

The finding, part of a larger examination of families of various ancestries – Europeans, Ashkenazi Jews, Indians and East Asians – is the first significant genetic evidence of a role of genes in perfect pitch. It is likely, the researchers say, that multiple genes are involved in all cases of perfect pitch and that different genes could be associated with different ethnic backgrounds.

Regardless, the finding is an important advance, they say, in their effort to move in on the relative roles of early musical training and genetic inheritance on perfect pitch. More broadly, says senior author Jane Gitschier, PhD, UCSF professor of medicine, pediatrics and genetics, and herself a singer, it is an advance in the team's effort to explore the relative contributions of environmental factors and genes on learning and other behaviors.

"Perfect pitch is a window into the way in which multiple genes and environmental factors influence cognitive or behavioral traits," she says. The team has learned over the last decade that both factors contribute to perfect pitch. "What's exciting now," she says, "is that we now have made the first foray into teasing out the genes that may be involved."

In the current study, the team drew on data acquired from the lab's web-based survey, established in 2003, which gathers information about participants' musical training history and tests their pitch-naming abilities. Tens of thousands of people have participated in the study to date, which they generally learn about through word of mouth or by surfing the web. Participants listen to an auditory frequency and then click on a keyboard to identify the note.

A 2007 analysis of data from the survey indicated that, across the population, the ability to identify notes does not range evenly across a continuum, as one might expect for most aptitudes. Instead, individuals tended to cluster at both ends of the spectrum. Many people showed little aptitude for identifying notes and another group exhibited perfect pitch, or something close to it, suggesting the possibility of a genetic component.

In the current study, lead author Elizabeth Theusch, a graduate student in the Gitschier lab, identified a collection of families in which at least two people (mostly siblings) had perfect pitch as determined by the web-based test. Seventy three of the families chose to participate in her investigation. They included 45 families of European ancestry, 19 of East Asian ancestry, eight of Ashkenazi Jew ancestry and one of Indian ancestry. She provided the study subjects with a mail-back kit to obtain DNA from saliva, or a mobile phlebotomy service was dispatched to collect blood.