Genome-wide study of families with absolute pitch reveals linkage to 8q24.21 and locus heterogeneity.

Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
The American Journal of Human Genetics (Impact Factor: 10.99). 08/2009; 85(1):112-9. DOI: 10.1016/j.ajhg.2009.06.010
Source: PubMed

ABSTRACT Absolute pitch (AP) is the rare ability to instantaneously recognize and label tones with their musical note names without using a reference pitch for comparison. The etiology of AP is complex. Prior studies have implicated both genetic and environmental factors in its genesis, yet the molecular basis for AP remains unknown. To locate regions of the human genome that may harbor AP-predisposing genetic variants, we performed a genome-wide linkage study on 73 multiplex AP families by genotyping them with 6090 SNP markers. Nonparametric multipoint linkage analyses were conducted, and the strongest evidence for linkage was observed on chromosome 8q24.21 in the subset of 45 families with European ancestry (exponential LOD score = 3.464, empirical genome-wide p = 0.03). Other regions with suggestive LOD scores included chromosomes 7q22.3, 8q21.11, and 9p21.3. Of these four regions, only the 7q22.3 linkage peak was also evident when 19 families with East Asian ancestry were analyzed separately. Though only one of these regions has yet reached statistical significance individually, we detected a larger number of independent linkage peaks than expected by chance overall, indicating that AP is genetically heterogeneous.

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    DESCRIPTION: No one knows exactly what causes absolute pitch, the mysterious ability to name a musical note without a reference pitch, or why it is so rare, with an estimated prevalence of 1 in 10,000. This dissertation explores the factors which may increase the chances of its acquisition. These are early musical training within a critical period of development, early exposure to a tone language, and genetic inheritance. There is compelling research that all of these factors are responsible for the development of absolute pitch, but there are many outliers, anomalies, and biases. The main bias is in the test for absolute pitch in most studies; the tests mostly require previous musical training and familiarity with the names of musical notes, therefore assuming that those without musical training cannot have absolute pitch, and so are not involved in the studies. It was, however, proved in one study by Ross (2006) that it is possible for a non musician to have absolute pitch. It is extremely rare for a person to acquire absolute pitch without receiving musical training within a critical period in infancy, usually ending between ages seven and eight. However as not all those who start musical training early have absolute pitch, it can't be the sole cause. This is the same with tone language speakers; those who speak a tone language are much more likely to develop absolute pitch because pitch is such an integral part of their language, but not all those who speak a tone language and start musical training within the critical period develop absolute pitch. Familial aggregation of absolute pitch suggests a genetic component to its acquisition, but thus far the genes that might cause it have not been definitively identified.
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    ABSTRACT: Advances in molecular technologies make it possible to pinpoint genomic factors associated with complex human traits. For cognition and behaviour, identification of underlying genes provides new entry points for deciphering the key neurobiological pathways. In the past decade, the search for genetic correlates of musicality has gained traction. Reports have documented familial clustering for different extremes of ability, including amusia and absolute pitch (AP), with twin studies demonstrating high heritability for some music-related skills, such as pitch perception. Certain chromosomal regions have been linked to AP and musical aptitude, while individual candidate genes have been investigated in relation to aptitude and creativity. Most recently, researchers in this field started performing genome-wide association scans. Thus far, studies have been hampered by relatively small sample sizes and limitations in defining components of musicality, including an emphasis on skills that can only be assessed in trained musicians. With opportunities to administer standardized aptitude tests online, systematic large-scale assessment of musical abilities is now feasible, an important step towards high-powered genome-wide screens. Here, we offer a synthesis of existing literatures and outline concrete suggestions for the development of comprehensive operational tools for the analysis of musical phenotypes. © 2015 The Author(s) Published by the Royal Society. All rights reserved.
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