Positional Cloning of the Human Quantitative Trait Locus Underlying Taste Sensitivity to Phenylthiocarbamide

@article{Kim2003PositionalCO,
  title={Positional Cloning of the Human Quantitative Trait Locus Underlying Taste Sensitivity to Phenylthiocarbamide},
  author={Un-Kyung Kim and Eric Jorgenson and Hilary Coon and M. Leppert and Neil J. Risch and Dennis Drayna},
  journal={Science},
  year={2003},
  volume={299},
  pages={1221 - 1225}
}
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… Expand
Genetics of individual differences in bitter taste perception: lessons from the PTC gene
TLDR
It is hypothesized that the non‐taster allele serves some function, and at least some of the remaining five haplotypes appear to confer intermediate sensitivity to PTC, suggesting future detailed studies of the relationships between receptor structure and taste function. Expand
Association of schizophrenia with the phenylthiocarbamide taste receptor haplotype on chromosome 7q
TLDR
The a-priori hypothesis was that schizophrenia patients would show an increased prevalence of the nontaster phenotype compared with controls, and the genotypes of two nonsynonymous coding single-nucleotide polymorphisms in TAS2R38 were assayed. Expand
Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene.
TLDR
A small isolated village in eastern Sardinia is studied and a genome-wide scan is carried out to map the genetic basis of PTC perception in this population to identify two haplotypes associated with the non-taster phenotype and to taster phenotype. Expand
Natural selection and molecular evolution in PTC, a bitter-taste receptor gene.
The ability to taste phenylthiocarbamide (PTC) is a classic phenotype that has long been known to vary in human populations. This phenotype is of genetic, epidemiologic, and evolutionary interestExpand
Relationship between PTC Genotype and Taste Phenotype in Normal Volunteers
TLDR
There was strong concordance between non-tasters defined by phenylthiocarbamide threshold and AVI homozygous, which gives rise to the practice of dichotomizing subjects into ‘tasters’ and ‘non-taster’. Expand
Multiplex minisequencing screening for PTC genotype associated with bitter taste perception
TLDR
A precise and rapid genetic tool is successfully developed for analysis of PTC genotype associated with bitter taste perception using SNaPshot minisequencing and the accuracy of the tool was investigated in 100 subjects who were genotyped by Sanger sequencing. Expand
Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci
TLDR
A comprehensive evaluation of sequence and haplotype variation in the human bitter taste receptor gene repertoire found that these genes exhibit substantial coding sequence diversity, consistent with the view that different alleles of the TAS2R genes encode receptors that recognize different ligands. Expand
Human taste genetics.
  • D. Drayna
  • Biology, Medicine
  • Annual review of genomics and human genetics
  • 2005
TLDR
Improvement in the understanding of taste at the molecular level has provided an understanding of variation in the ability to taste phenylthiocarbamide (PTC), and has resolved long-standing controversies about the genetics of this classic human genetic trait. Expand
Progress in Human Bitter Phenylthiocarbamide Genetics
TLDR
Although alleles of the gene on chromosome 7 are related to PTC sensitivity, several lines of evidence suggest that other major genes influence the PTC trait as well as sensitivity to PROP and other compounds in this chemical family. Expand
Genetic, functional, and phenotypic diversity in TAS2R38-mediated bitter taste perception.
TLDR
Genetic diversity in 56 Caucasian subjects was ascertained via whole-gene sequencing, allele-specific responses to 5 TAS2R38 agonists were analyzed using in vitro assays, and associations with threshold were significant for all single nucleotide polymorphisms and PAV/AVI haplotypes. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 16 REFERENCES
The genetics of phenylthiocarbamide perception.
The ability to taste the bitter compound phenylthiocarbamide (PTC) and related chemicals is bimodal, and all human populations tested to date contain some people who can and some people who cannotExpand
Alternative genetic models for the inheritance of the phenylthiocarbamide taste deficiency
Pedigree segregation analysis was used to examine several one‐ and two‐locus models of the inheritance of phenylthiocarbamide (PTC) taste deficiency that extend the traditional one‐locus recessiveExpand
Identification of coding single-nucleotide polymorphisms in human taste receptor genes involving bitter tasting.
TLDR
The identification of nucleotide diversity and amino acid polymorphisms in human T2R receptors could help clarify individual differences in the acceptability and sensitivity to bitter compounds. Expand
Phenylthiocarbamide taste sensitivity revisited: Complete sorting test supports residual family resemblance
TLDR
Segregation analysis using the mixed model suggested that the variability in PTC thresholds is controlled by a major locus with incomplete dominance as well as by a multifactorial component with significant residual heritability. Expand
Localization of a gene for bitter-taste perception to human chromosome 5p15.
TLDR
The present work was supported by National Institutes of Health (NIH) grant R03DC03509, and funds from Axys Pharmaceuticals and Glaxo-Wellcome (to D.R.R). Expand
6-n-Propylthiouracil: a genetic marker for taste, with implications for food preference and dietary habits.
  • B. Tepper
  • Biology, Medicine
  • American journal of human genetics
  • 1998
TLDR
6-n-Propylthiouracil and phenythiocarbamide are members of a class of compounds known as “thioureas,” which carry the chemical group N-C=S, which is responsible for their characteristic bitter taste. Expand
Linkage relations of the loci for Kell and phenylthiocarbamide taste sensitivity.
TLDR
Results, which include the Sutter blood group, support the hypothesis that Sutter is a part of the Kell system and demonstrate close linkage between Kell and PTC loci. Expand
Estimating the Recombination frequency for the PTC-Kell linkage
TLDR
Two new data sets are analyzed for linkage between the PTC and Kell blood group loci, giving a combined maximum likelihood estimate of 0.28 and statistically significant evidence of heterogeneity among the published studies. Expand
Site-directed mutagenesis of the cytoplasmic domains of the human beta 2-adrenergic receptor. Localization of regions involved in G protein-receptor coupling.
TLDR
By monitoring ligand binding characteristics and receptor-mediated stimulation of adenylyl cyclase, it is determined that the C-terminal portion of the third cytoplasmic loop and the N- terminal segment of the cytopLasmic tail appear to be critical for productive receptor-coupling to G proteins. Expand
Does a reduced sensitivity to bitter taste increase the risk of becoming nicotine addicted?
TLDR
It is hypothesized that individuals who, in a simple taste test, perceive phenylthiocarbamide (PTC) as bitter may find the taste of cigarettes aversively bitter and could therefore have a reduced vulnerability to nicotine addiction compared to nontasters, who would be the group at greater risk of addiction. Expand
...
1
2
...