Difference between revisions of "Phenoscape use cases"

From phenoscape
(Identify candidate genes for a particular evolutionary phenotype)
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One focus of developmental biology is to understand how genes regulate development, and therefore examining the phenotypic effects of single gene mutations is a major emphasis in studies of zebrafish and other model organisms.  Genetic change underlies alterations in evolutionary characters as well, but the connection between specific genes and most evolutionary changes has not been made.  Thus, one of the first steps in investigating the developmental basis for a particular evolutionary change in morphology is to hypothesize a relationship between that morphology and a set of candidate genes.
 
One focus of developmental biology is to understand how genes regulate development, and therefore examining the phenotypic effects of single gene mutations is a major emphasis in studies of zebrafish and other model organisms.  Genetic change underlies alterations in evolutionary characters as well, but the connection between specific genes and most evolutionary changes has not been made.  Thus, one of the first steps in investigating the developmental basis for a particular evolutionary change in morphology is to hypothesize a relationship between that morphology and a set of candidate genes.
  
==Example==
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===Example===
Extensive variation in the size, shape, presence and absence of bones characterizes the course of vertebrate evolution, and such variation is commonly used in phylogenetic analysis in fishes.  An evolutionary biologist observes variation in the size of a particular bone, ceratobranchial 5,  among Ostariophysi (Siebert, '87). The person queries the evolutionary phenotype database for matching  mutant zebrafish phenotypes by using terms from shared ontologies: Entity = Ceratobranchial 5 [from TAO] and all qualities pertaining to attribute ‘size’ [from the PATO].  The response will be a list of  zebrafish mutants and their phenotypes, along with the associated genes, and possibly gene expression  images.  sox9a is shown to have a role in size reduction in ceratobranchial 5 in the mutant line sox9ahi1134  (Yan et al., '05).  The evolutionary biologist would hypothesize that the regulation or sequence of sox9a  has been altered during evolution to result in the enlargement of this bone in two lineages, and they would  pursue the appropriate developmental genetic work to test this hypothesis.  They might further explore the  function of the gene in other model organisms.  
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Extensive variation in the size, shape, presence and absence of bones characterizes the course of vertebrate evolution, and such variation is commonly used in phylogenetic analysis in fishes.  An evolutionary biologist observes variation in the size of a particular bone, ceratobranchial 5,  among Ostariophysi (Siebert, '87). The person queries the evolutionary phenotype database for matching  mutant zebrafish phenotypes by using terms from shared ontologies: Entity = Ceratobranchial 5 [from TAO] and all qualities pertaining to attribute ‘size’ [from the PATO].  The response will be a list of  zebrafish mutants and their phenotypes, along with the associated genes, and possibly gene expression  images.  sox9a is shown to have a role in size reduction in ceratobranchial 5 in the mutant line sox9ahi1134  (Yan et al., '05).  The evolutionary biologist would hypothesize that the regulation or sequence of sox9a  has been altered during evolution to result in the enlargement of this bone in two lineages, and they would  pursue the appropriate developmental genetic work to test this hypothesis.  They might further explore the  function of the gene in other model organisms.
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Revision as of 22:52, 3 August 2008

Identify candidate genes for a particular evolutionary phenotype

Motivation

One focus of developmental biology is to understand how genes regulate development, and therefore examining the phenotypic effects of single gene mutations is a major emphasis in studies of zebrafish and other model organisms. Genetic change underlies alterations in evolutionary characters as well, but the connection between specific genes and most evolutionary changes has not been made. Thus, one of the first steps in investigating the developmental basis for a particular evolutionary change in morphology is to hypothesize a relationship between that morphology and a set of candidate genes.

Example

Extensive variation in the size, shape, presence and absence of bones characterizes the course of vertebrate evolution, and such variation is commonly used in phylogenetic analysis in fishes. An evolutionary biologist observes variation in the size of a particular bone, ceratobranchial 5, among Ostariophysi (Siebert, '87). The person queries the evolutionary phenotype database for matching mutant zebrafish phenotypes by using terms from shared ontologies: Entity = Ceratobranchial 5 [from TAO] and all qualities pertaining to attribute ‘size’ [from the PATO]. The response will be a list of zebrafish mutants and their phenotypes, along with the associated genes, and possibly gene expression images. sox9a is shown to have a role in size reduction in ceratobranchial 5 in the mutant line sox9ahi1134 (Yan et al., '05). The evolutionary biologist would hypothesize that the regulation or sequence of sox9a has been altered during evolution to result in the enlargement of this bone in two lineages, and they would pursue the appropriate developmental genetic work to test this hypothesis. They might further explore the function of the gene in other model organisms.

Input

Output

Identify evolutionary changes that match the phenotype of a zebrafish mutant

Motivation

Input

Output

Compare genetically and evolutionarily correlated characters

Motivation

Input

Output