The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Positional Cloning of the Human Quantitative Trait Locus Underlying Taste Sensitivity to Phenylthiocarbamide
Abstract
The ability to taste the substance phenylthiocarbamide (PTC) has been widely used for genetic and anthropological studies, but genetic studies have produced conflicting results and demonstrated complex inheritance for this trait. We have identified a small region on chromosome 7q that shows strong linkage disequilibrium between single-nucleotide polymorphism (SNP) markers and PTC taste sensitivity in unrelated subjects. This region contains a single gene that encodes a member of the TAS2R bitter taste receptor family. We identified three coding SNPs giving rise to five haplotypes in this gene worldwide. These haplotypes completely explain the bimodal distribution of PTC taste sensitivity, thus accounting for the inheritance of the classically defined taste insensitivity and for 55 to 85% of the variance in PTC sensitivity. Distinct phenotypes were associated with specific haplotypes, which demonstrates that this gene has a direct influence on PTC taste sensitivity and that sequence variants at different sites interact with each other within the encoded gene product.
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Cites
A novel multigene family may encode odorant receptors: A molecular basis for odor recognition
Buck, L., & Axel, R. (1991) · Cell · doi:10.1016/0092-8674(91)90418-x · Cited by 4,987
Cited by
Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology
Lawlor, D. A., Harbord, R. M., Sterne, J. A. C., Timpson, N., & Davey Smith, G. (2008) · Statistics in Medicine · doi:10.1002/sim.3034 · Cited by 4,618
Common sense about taste: from mammals to insects
Yarmolinsky, D. A., Zuker, C. S., & Ryba, N. J. P. (2009) · Cell · doi:10.1016/j.cell.2009.10.001 · Cited by 856
Genetic and environmental determinants of bitter perception and sweet preferences.
Mennella, J. A., Pepino, M. Y., & Reed, D. R. (2005) · Pediatrics · doi:10.1542/peds.2004-1582 · Cited by 576
The receptors and coding logic for bitter taste
Mueller, K. L., Hoon, M. A., Erlenbach, I., Chandrashekar, J., Zuker, C. S., & Ryba, N. J. P. (2005) · Nature · doi:10.1038/nature03352 · Cited by 524
Liman, E. R., Zhang, Y. V., & Montell, C. (2014) · Neuron · doi:10.1016/j.neuron.2014.02.022 · Cited by 473
Metadata
- Authors
- Kim, U.-K., Jorgenson, E., Coon, H., Leppert, M., Risch, N., & Drayna, D.
- Venue
- Science
- Published
- 2003-02-21
- Volume
- 299
- Issue
- 5610
- Pages
- 1221-1225
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2066381476
- Cited by
- 904
- References
- 1
- FWCI
- 27.90
- Type
- journal article
- Language
- en
- Open access
- closed
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- Kim, U.-K., Jorgenson, E., Coon, H., Leppert, M., Risch, N., & Drayna, D. (2003). Positional Cloning of the Human Quantitative Trait Locus Underlying Taste Sensitivity to Phenylthiocarbamide. Science. https://doi.org/10.1126/science.1080190
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
