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Mechanisms of zebrafish development ...
~
Jurynec, Michael J.
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Mechanisms of zebrafish development and disease.
Record Type:
Electronic resources : Monograph/item
Title/Author:
Mechanisms of zebrafish development and disease./
Author:
Jurynec, Michael J.
Description:
162 p.
Notes:
Source: Dissertation Abstracts International, Volume: 67-04, Section: B, page: 1800.
Contained By:
Dissertation Abstracts International67-04B.
Subject:
Biology, Neuroscience. -
Online resource:
http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3213360
ISBN:
9780542637629
Mechanisms of zebrafish development and disease.
Jurynec, Michael J.
Mechanisms of zebrafish development and disease.
- 162 p.
Source: Dissertation Abstracts International, Volume: 67-04, Section: B, page: 1800.
Thesis (Ph.D.)--The University of Utah, 2006.
This dissertation presents three independent projects. Chapters 2 and 3 describe analysis of gene functions at the telomere of linkage group 15 in the zebrafish. Chapter 4 describes the use of zebrafish to model and gain insight into human disease. Chapter 5 describes how the discovery of the golden gene in zebrafish has furthered our understanding of genetic variation and human skin pigmentation.
ISBN: 9780542637629Subjects--Topical Terms:
1017680
Biology, Neuroscience.
Mechanisms of zebrafish development and disease.
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162 p.
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Source: Dissertation Abstracts International, Volume: 67-04, Section: B, page: 1800.
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Adviser: David J. Arunwald.
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Thesis (Ph.D.)--The University of Utah, 2006.
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This dissertation presents three independent projects. Chapters 2 and 3 describe analysis of gene functions at the telomere of linkage group 15 in the zebrafish. Chapter 4 describes the use of zebrafish to model and gain insight into human disease. Chapter 5 describes how the discovery of the golden gene in zebrafish has furthered our understanding of genetic variation and human skin pigmentation.
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Chapter 2 describes the genomic characterization of the neural crest mutation, alyronz12 and the identification of a gene encoding the SH2-domain containing inositol phosphatase 2 (Ship2) as a candidate gene for alyronz12.
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Chapter 3 shows that maternal ship2 functions in the Fibroblast Growth Factor (FGF) pathway for proper dorsoventral (DV) patterning. Loss of maternal ship2 leads to an expansion of dorsal cell fates at the expense of ventral cell fates. I show that the maternal ship2 product functions to attenuate FGF signaling at or shortly after the onset of zygotic transcription. My work demonstrates that Ship2 is a new factor in the FGF pathway required for proper DV patterning of the zebrafish embryo.
520
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In Chapter 4 I used the zebrafish to model a human disease, Rigid Spine Muscular Dystrophy (RSMD). I can recapitulate many aspects of the human disease in zebrafish including muscle weakness and sarcomeric disorganization by removing sepN gene function from the embryo. Furthermore, sepN is required cell autonomously in muscle precursors for Hedgehog growth factor signaling and proper formation of slow muscle fibers. My data indicate that SepN is involved in the early process of muscle specification and fiber formation, thus giving insight into mechanisms involved in the human disease.
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Chapter 5 shows that the human orthologue of a gene that regulates pigmentation in zebrafish, slc24a5, plays a role in human skin pigmentation. Characterization of the human SLC24A5 gene demonstrated that it has the same function as the zebrafish golden gene. There are two common variants of SLC24A5 in the human population: one is prevalent in European-American populations and the other is prevalent in African and East Asian populations. Our data indicate that variation in SLC24A5 is a major determinant of skin pigmentation.
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School code: 0240.
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Biology, Cell.
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Health Sciences, Pathology.
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http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3213360
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