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Absolute pitch exhibits phenotypic and genetic overlap with synesthesia
Peter K Gregersen1, Elena Kowalsky, Annette Lee
1Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, NorthShore-LIJ, Manhasset, NY 11030, USA.
Human Molecular Genetics
|February 15, 2013
Summary
Absolute pitch (AP) and synesthesia, uncommon cognitive traits, frequently co-occur. Genetic analysis reveals shared links on chromosomes 6q and 2, suggesting a common biological basis for these conditions.
Area of Science:
- Neuroscience
- Human Cognition
- Genetics
Background:
- Absolute pitch (AP) and synesthesia are rare cognitive traits associated with enhanced neural connectivity.
- Anecdotal evidence suggests a potential co-occurrence of AP and synesthesia in individuals.
- Systematic investigation is needed to confirm the relationship between these traits.
Purpose of the Study:
- To systematically evaluate the prevalence of synesthesia in individuals with documented absolute pitch.
- To investigate the potential shared genetic underpinnings of AP and synesthesia.
Main Methods:
- A cohort of 768 subjects with AP was assessed for synesthesia.
- Synesthesia self-reports were validated in a subset of 21 subjects using established methods.
- Combined linkage analysis was performed on 53 multiplex families with AP and 36 with synesthesia.
Main Results:
- 20.1% of subjects with AP reported synesthesia, most commonly color-sound synesthesia.
- Linkage analysis identified a significant peak LOD score of 4.68 on chromosome 6q and evidence of linkage on chromosome 2.
- The chromosome 6 linkage region contains 73 genes, with initial exon resequencing of candidate neurodevelopmental genes.
Conclusions:
- The study provides robust evidence for a close phenotypic and genetic relationship between absolute pitch and synesthesia.
- Shared genetic factors likely contribute to the co-occurrence of AP and synesthesia.
- Further research is required to identify the specific causative genes in the linked chromosomal regions.
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