Persistent Link:
http://hdl.handle.net/10150/613385
Title:
DEVELOPING CURATED RESOURCES FOR RASOPATHIES RESEARCH
Author:
PAULAT, NICOLE SUZANNE
Issue Date:
2016
Publisher:
The University of Arizona.
Rights:
Copyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.
Abstract:
The RASopathies are a diverse set of genetic diseases that are caused by mutations to the RAS/MAPK signaling pathway, which is crucial in embryonic and early development. Biomedical model studies are important for developing understanding of mechanisms of the RAS/MAPK pathway and their individual effects on disease phenotype, however these studies are hindered by lack of standard nomenclature and functional annotations. We selected chicken as a comparative model, and analyzed a human RAS/MAPK pathway gene set to identify chicken orthologs. These orthologs were then assessed and standardized gene nomenclature, as well as updated ortholog and Ensembl ID mappings. Functional annotations for these genes were assessed for overall functional annotation increases as well as annotation increases related to biological function. This work improved accessibility to existing data in order to allow researchers to more rapidly obtain gene functional data across species when studying RASopathies in chicken.
Type:
text; Electronic Thesis
Degree Name:
B.S.
Degree Level:
Bachelors
Degree Program:
Honors College; Microbiology
Degree Grantor:
University of Arizona
Advisor:
McCarthy, Fiona

Full metadata record

DC FieldValue Language
dc.language.isoen_USen
dc.titleDEVELOPING CURATED RESOURCES FOR RASOPATHIES RESEARCHen_US
dc.creatorPAULAT, NICOLE SUZANNEen
dc.contributor.authorPAULAT, NICOLE SUZANNEen
dc.date.issued2016-
dc.publisherThe University of Arizona.en
dc.rightsCopyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.en
dc.description.abstractThe RASopathies are a diverse set of genetic diseases that are caused by mutations to the RAS/MAPK signaling pathway, which is crucial in embryonic and early development. Biomedical model studies are important for developing understanding of mechanisms of the RAS/MAPK pathway and their individual effects on disease phenotype, however these studies are hindered by lack of standard nomenclature and functional annotations. We selected chicken as a comparative model, and analyzed a human RAS/MAPK pathway gene set to identify chicken orthologs. These orthologs were then assessed and standardized gene nomenclature, as well as updated ortholog and Ensembl ID mappings. Functional annotations for these genes were assessed for overall functional annotation increases as well as annotation increases related to biological function. This work improved accessibility to existing data in order to allow researchers to more rapidly obtain gene functional data across species when studying RASopathies in chicken.en
dc.typetexten
dc.typeElectronic Thesisen
thesis.degree.nameB.S.en
thesis.degree.levelBachelorsen
thesis.degree.disciplineHonors Collegeen
thesis.degree.disciplineMicrobiologyen
thesis.degree.grantorUniversity of Arizonaen
dc.contributor.advisorMcCarthy, Fionaen
All Items in UA Campus Repository are protected by copyright, with all rights reserved, unless otherwise indicated.