Some humans perceive the taste of phenylthiocarbamide (PTC) and its chemical relative, propylthiouracil (PROP) as intensely bitter at low concentrations, while others find it undetectable, even at much higher concentrations. Although this human trait has been recognized for a long time, and its Mendelian pattern of inheritance documented, the corresponding gene is unknown. Preliminary analysis of 100 families conducted by the P.I. suggests that the gene may reside on the short arm of chromosome 5. Therefore, the P.I. proposes to conduct experiments to precisely map and identify the gene. She plans to test the linkage between chromosome 5p and taster status in an additional 100 newly collected families (Specific Aim 1). This would provide a replicate sample to verify the initial map location, and the pooled sample of 200 families will be sufficiently powerful to meet the genome-criteria of significant linkage.
In Specific Aim 1, the P.I. proposes to densely genotype these 200 families using markers in the 5p13 region, construct haplotypes, and find those haplotypes shared among tasters, but not shared among nontasters. The linked area of 5p contains 26 simple sequence repeats and single nucleotide polymorphisms within a 13MB region, which will be used for this dense mapping.
In Specific Aim 3, the P.I. will initiate an evaluation of candidate genes located within the region identified, by screening for variabilities associated with PROP-taster status.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Research Project (R01)
Project #
5R01DC004698-02
Application #
6379594
Study Section
Special Emphasis Panel (ZRG1-IFCN-4 (01))
Program Officer
Davis, Barry
Project Start
2000-04-01
Project End
2003-03-31
Budget Start
2001-04-01
Budget End
2002-03-31
Support Year
2
Fiscal Year
2001
Total Cost
$171,577
Indirect Cost
Name
Monell Chemical Senses Center
Department
Type
DUNS #
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
Adappa, Nithin D; Farquhar, Douglas; Palmer, James N et al. (2016) TAS2R38 genotype predicts surgical outcome in nonpolypoid chronic rhinosinusitis. Int Forum Allergy Rhinol 6:25-33
Hwang, Liang-Dar; Zhu, Gu; Breslin, Paul A S et al. (2015) A common genetic influence on human intensity ratings of sugars and high-potency sweeteners. Twin Res Hum Genet 18:361-7
Lee, Robert J; Xiong, Guoxiang; Kofonow, Jennifer M et al. (2012) T2R38 taste receptor polymorphisms underlie susceptibility to upper respiratory infection. J Clin Invest 122:4145-59
Jiang, Peihua; Josue, Jesusa; Li, Xia et al. (2012) Major taste loss in carnivorous mammals. Proc Natl Acad Sci U S A 109:4956-61
Mennella, J A; Finkbeiner, S; Reed, D R (2012) The proof is in the pudding: children prefer lower fat but higher sugar than do mothers. Int J Obes (Lond) 36:1285-91
Knaapila, Antti; Zhu, Gu; Medland, Sarah E et al. (2012) A genome-wide study on the perception of the odorants androstenone and galaxolide. Chem Senses 37:541-52
Lipchock, Sarah V; Reed, Danielle R; Mennella, Julie A (2012) Relationship between bitter-taste receptor genotype and solid medication formulation usage among young children: a retrospective analysis. Clin Ther 34:728-33
Lipchock, Sarah V; Reed, Danielle R; Mennella, Julie A (2011) The gustatory and olfactory systems during infancy: implications for development of feeding behaviors in the high-risk neonate. Clin Perinatol 38:627-41
Mennella, Julie A; Pepino, Marta Yanina; Duke, Fujiko F et al. (2011) Psychophysical dissection of genotype effects on human bitter perception. Chem Senses 36:161-7
Li, Xia; Bachmanov, Alexander A; Maehashi, Kenji et al. (2011) Sweet taste receptor gene variation and aspartame taste in primates and other species. Chem Senses 36:453-75

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