To give background information for a biology 205 lab in which the students will look at the relationship between what PTC alleles a person has and what their tasting ability is. Student's will be sequencing the PTC gene and determining the haplotypes of several individuals (tasting ability of each person will be known as well).
We have known that PTC tasting/nontasting is genetically determined for a long time.
Recently the gene has been identified and cloned, making it possible to investigate at a molecular level, why some people can taste PTC and some can't.
Summarize what we know so far about the relationship between sequence variations and tasting ability.
Blakeslee AF. 1932. Genetics of sensory thresholds: taste for phenyl thio carbamide. Proc Natl Acad Sci USA 18:120.
Fox AL. 1932. The relationship between chemical constitution and taste. Proc Natl Acad Sci USA 18:115.
Kim U, 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 299:1221.
Wooding S, Kim U-K, Bamshad MJ, Larsen J, Jorde LB, Drayna D. 2004. Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. Am. J. Hum. Genet. 74:637–646.
Using statistical methods (ME - that I don't understand), these authors concluded that balancing natural selection is responsible for maintaining the 2 major haplotypes (and associated phenotypes)
The heritability of PTC tasting ability was first identified in 1932 (Blakeslee 1932; Fox 1932). Until recently, the ability to taste PTC was thought to be inherited as a simple, dominant Mendelian trait (Fox 1932). For decades people were classified as either “tasters” or “nontasters”, even as evidence accumulated that there is a more continuous distribution in tasting ability. The riddle of PTC tasting was partially solved when the gene responsible was identified (Kim et al. 2003). Sequence analysis of the PTC gene (TASR38) has identified 5 nucleotide positions that can vary in sequence (such variations are referred to as Single Nucleotide Polymorphisms or SNPs)(Wooding et al. 2004). Although the 5 SNPs can theoretically combine to form 32 distinct haplotypes, so far only 7 haplotypes have been observed, and greater than 97% of all PTC sequences are accounted for by only 3 haplotypes (Wooding et al. 2004; Kim et al. 2003).
Let's break it down
The heritability of PTC tasting ability was first identified in 1932 (Blakeslee 1932; Fox 1932).
Note that both papers look at more than just the PTC tasting ability. Fox investigate the taste of several chemicals related to PTC; however, I don't need to include this in my paragraph because it is not pertinent to the point I want to make (that we have been studying this taste since 1932).
The riddle of PTC tasting was partially solved when the gene responsible was identified (Kim et al. 2003).
The paper I am citing contains the detailed description of how the gene involved was identified and cloned. I'm not discussing how to identify genes so I don't need to talk about those details. I do, however, want my audience to know how I know that TAS2R38 encode PTC tasting.