The Genetic Architecture of Quantitative Traits
Abstract
▪ Abstract Phenotypic variation for quantitative traits results from the segregation of alleles at multiple quantitative trait loci (QTL) with effects that are sensitive to the genetic, sexual, and external environments. Major challenges for biology in the post-genome era are to map the molecular polymorphisms responsible for variation in medically, agriculturally, and evolutionarily important complex traits; and to determine their gene frequencies and their homozygous, heterozygous, epistatic, and pleiotropic effects in multiple environments. The ease with which QTL can be mapped to genomic intervals bounded by molecular markers belies the difficulty in matching the QTL to a genetic locus. The latter requires high-resolution recombination or linkage disequilibrium mapping to nominate putative candidate genes, followed by genetic and/or functional complementation and gene expression analyses. Complete genome sequences and improved technologies for polymorphism detection will greatly advance the genetic dissection of quantitative traits in model organisms, which will open avenues for exploration of homologous QTL in related taxa.
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In model organism research, pedigree analyses and genetic crosses using linkage mapping almost always identify multiple variants influencing the quantitative trait.
“In model organism research, both pedigree analyses and genetic crosses in which linkage mapping is used to localize QTL almost always lead to the identification of multiple variants influencing the quantitative trait of interest20.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [20]
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- Authors
- Mackay, T. F. C.
- Affiliations
- North Carolina State University (US)
- Corresponding author
- Mackay, Trudy F. C.
- ORCID
- Mackay, Trudy F. C.
- Venue
- Annual Review of Genetics
- Publisher
- Annual Reviews
- Published
- 2001-12
- Volume
- 35
- Issue
- 1
- Pages
- 303-339
- ISSN
- 0066-4197 (ISSN-L)
- 1545-2948
- OpenAlex
- W2132563424
- Cited by
- 1,106
- References
- 286
- Citations by year
- 2026: 15 · 2025: 33 · 2024: 32 · 2023: 23 · 2022: 35 · 2021: 42 · 2020: 26 · 2019: 43 · 2018: 34 · 2017: 48 · 2016: 34 · 2015: 36 · 2014: 48 · 2013: 57 · 2012: 44
- FWCI
- 4.62
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- quantitative trait loci, genetic architecture, quantitative traits, QTL mapping, association mapping, candidate genes, epistasis, pleiotropy, gene-environment interaction, molecular markers, complex traits, functional complementation, gene expression analysis
- MeSH terms
- Animals, Chromosome Mapping, Genotype, Humans, Genetic Linkage, Models, Genetic, Mutation, Quantitative Trait, Heritable, Polymorphism, Single Nucleotide
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