Quantitative Trait Locus

A quantitative trait locus (QTL) is a section of DNA (the locus) that correlates with variation in a phenotype (the quantitative trait). Usually the QTL is linked to, or contains, the genes that control that phenotype. QTLs are mapped by identifying which molecular markers (such as SNPs or AFLPs) correlate with an observed trait. This is often an early step in identifying and sequencing the actual genes that cause the trait variation.

Quantitative traits are phenotypes (characteristics) that vary in degree and can be attributed to polygenic effects, i.e., the product of two or more genes, and their environment.

Mendelian inheritance was rediscovered at the beginning of the 20th century, and as Mendel's ideas spread geneticists began to connect Mendel's rules of inheritance of single factors to Darwinian evolution. For early geneticists, it was not immediately clear that the smooth variation in traits like body size (i.e., Incomplete Dominance) was caused by the inheritance of single genetic factors. Although Darwin himself observed that inbred features of fancy pigeons were inherited in accordance with Mendel's laws (although Darwin didn't actually know about Mendel's ideas when he made the observation), it was not obvious that these features selected by fancy pigeon breeders can similarly explain quantitative variation in nature.

An early attempt by William Ernest Castle to unify the laws of Mendelian inheritance with Darwin's theory of speciation invoked the idea that species become distinct from one another as one species or the other acquires a novel Mendelian factor. Castle's conclusion was based on the observation that novel traits that could be studied in the lab and that show Mendelian inheritance patterns reflect a large deviation from the wild type, and Castle believed that acquisition of such features is the basis of "discontinuous variation" that characterizes speciation. Interestingly, Darwin discussed the inheritance of similar mutant features but did not invoke them as a requirement of speciation. Instead Darwin used the emergence of such features in breeding populations as evidence that mutation can occur at random within breeding populations, which is a central premise of his model of selection in nature. Later in his career, Castle would refine his model for speciation to allow for small variation to contribute to speciation over time. He also was able to demonstrate this point by selectively breeding laboratory populations of rats to obtain a hooded phenotype over several generations.

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