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Their loss is our gain: regressive evolution in vertebrates provides genomic models for uncovering human disease loci
by
Emerling, Christopher A
, Widjaja, Andrew D
, Springer, Mark S
, Nguyen, Nancy N
in
Amelogenesis imperfecta
/ Amelogenesis Imperfecta - diagnosis
/ Amelogenesis Imperfecta - genetics
/ Animals
/ Cetacea
/ Color blindness
/ Color Vision Defects - diagnosis
/ Color Vision Defects - genetics
/ Congenital diseases
/ Degeneration
/ Disease
/ Evolution
/ Evolution, Molecular
/ Genes
/ Genetic Association Studies
/ Genetic Loci
/ Genetic Predisposition to Disease
/ Genome
/ Genomes
/ Genomics - methods
/ Humans
/ Models, Genetic
/ Mutation
/ Phenotype
/ Photoreceptors
/ Proteins
/ Pseudogenes
/ Researchers
/ Studies
/ Vertebrates - genetics
2017
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Their loss is our gain: regressive evolution in vertebrates provides genomic models for uncovering human disease loci
by
Emerling, Christopher A
, Widjaja, Andrew D
, Springer, Mark S
, Nguyen, Nancy N
in
Amelogenesis imperfecta
/ Amelogenesis Imperfecta - diagnosis
/ Amelogenesis Imperfecta - genetics
/ Animals
/ Cetacea
/ Color blindness
/ Color Vision Defects - diagnosis
/ Color Vision Defects - genetics
/ Congenital diseases
/ Degeneration
/ Disease
/ Evolution
/ Evolution, Molecular
/ Genes
/ Genetic Association Studies
/ Genetic Loci
/ Genetic Predisposition to Disease
/ Genome
/ Genomes
/ Genomics - methods
/ Humans
/ Models, Genetic
/ Mutation
/ Phenotype
/ Photoreceptors
/ Proteins
/ Pseudogenes
/ Researchers
/ Studies
/ Vertebrates - genetics
2017
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Do you wish to request the book?
Their loss is our gain: regressive evolution in vertebrates provides genomic models for uncovering human disease loci
by
Emerling, Christopher A
, Widjaja, Andrew D
, Springer, Mark S
, Nguyen, Nancy N
in
Amelogenesis imperfecta
/ Amelogenesis Imperfecta - diagnosis
/ Amelogenesis Imperfecta - genetics
/ Animals
/ Cetacea
/ Color blindness
/ Color Vision Defects - diagnosis
/ Color Vision Defects - genetics
/ Congenital diseases
/ Degeneration
/ Disease
/ Evolution
/ Evolution, Molecular
/ Genes
/ Genetic Association Studies
/ Genetic Loci
/ Genetic Predisposition to Disease
/ Genome
/ Genomes
/ Genomics - methods
/ Humans
/ Models, Genetic
/ Mutation
/ Phenotype
/ Photoreceptors
/ Proteins
/ Pseudogenes
/ Researchers
/ Studies
/ Vertebrates - genetics
2017
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Their loss is our gain: regressive evolution in vertebrates provides genomic models for uncovering human disease loci
Journal Article
Their loss is our gain: regressive evolution in vertebrates provides genomic models for uncovering human disease loci
2017
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Overview
Throughout Earth’s history, evolution’s numerous natural ‘experiments’ have resulted in a diverse range of phenotypes. Though de novo phenotypes receive widespread attention, degeneration of traits inherited from an ancestor is a very common, yet frequently neglected, evolutionary path. The latter phenomenon, known as regressive evolution, often results in vertebrates with phenotypes that mimic inherited disease states in humans. Regressive evolution of anatomical and/or physiological traits is typically accompanied by inactivating mutations underlying these traits, which frequently occur at loci identical to those implicated in human diseases. Here we discuss the potential utility of examining the genomes of vertebrates that have experienced regressive evolution to inform human medical genetics. This approach is low cost and high throughput, giving it the potential to rapidly improve knowledge of disease genetics. We discuss two well-described examples, rod monochromacy (congenital achromatopsia) and amelogenesis imperfecta, to demonstrate the utility of this approach, and then suggest methods to equip non-experts with the ability to corroborate candidate genes and uncover new disease loci.
Publisher
BMJ Publishing Group LTD
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