Positional identification of structural and regulatory quantitative trait nucleotides in domestic animal species.

28/01/2019, 11)54 Positional Identification of Structural and Regulatory Quantitative Trait Nucleotides in Domestic Animal Species

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Cold Spring Harbor Symposia on Quantitative Biology

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doi:10.1101/sqb.2003.68.179

Cold Spring Harb Symp Quant Biol 2003. 68: 179-188

Positional Identification of Structural and Regulatory Quantitative Trait

Nucleotides in Domestic Animal Species

M. GEORGES and L. ANDERSSON Author Affiliations

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Excerpt

Although the identification of mutations underlyingmonogenic traits has become nearly trivial, the moleculardissection of multifactorial traits—which include the majority of medically and agronomically important phenotypes—remains a major challenge. Despite the substantial resources that have been allocated to suchefforts—particularly in human—a recent survey reportedonly 30 successful outcomes, all organisms confounded(Glazier et al. 2002). This number has to be comparedwith the more than 1,600 Mendelian traits for which thecausal mutation has been identified in the human only. Asrecently stated by Rutherford and Henikoff (2003), "Thenature of quantitative-trait variation is one of the last unexplored frontiers in genetics, awaiting the future cloningand definitive identification of quantitative-trait determinants, whether they be genetic or epigenetic." Indeed, itremains largely unknown how many mutations underliethe genetic variation for a typical quantitative trait, whatthe nature of these mutations is (structural or regulatory;genetic or epigenetic), what the actual distribution of effect size is, what the importance of dominance, epistaticand gene-by-environment interactions is, how geneticvariation is maintained, etc...

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