Analysis Of The Mouse p100H Mutation: Implications For Two Disease Related Genes: P and Sox6

Persistent Link:
http://hdl.handle.net/10150/195251
Title:
Analysis Of The Mouse p100H Mutation: Implications For Two Disease Related Genes: P and Sox6
Author:
Yi, Zanhua
Issue Date:
2005
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:
My dissertation is focused on the genetics analyses of a mouse mutation, p100H. This mutation is caused by a radiation-induced chromosomal inversion that disrupts both the p gene and Sox6. The human counterparts of these two murine genes are either known to cause human disease (human P gene) or have potential implications in developing a new strategy to treat human disease (SOX6).In the first part of my dissertation (Chapter One, Part I) on the human P gene, I found that all Navajos with albinism carry a homozygous deletion of 122.5 kb of genomic DNA, including exons 10 20 of the P gene, indicating that albinism among the Navajos is OCA2. This deletion of P gene is Navajo-specific, since I did not find this deletion allele in 34 other individuals with albinism who list various other Native American origins. The Navajo-specific P gene deletion came from a founder mutation. The estimated age of the deletion is 400 1,000 years. In addition, as part of my dissertation (Chapter one, Part II), I found that many patients with Hermansky-Pudlak syndrome-like clinical presentations actually carry P gene mutation. This highlights the importance of molecular analysis in clinical diagnosis.In the second part of my dissertation (Chapter Two), I characterized a novel function of the transcription factor Sox6 in red cell development and in the silencing of epsilon globin, an embryonic globin gene. This finding bears significance in the field of globin gene regulation and has an important potential in the development of new therapeutic strategies for treating sickle cell anemia and beta thalassemia.
Type:
text; Electronic Dissertation
Keywords:
Genetics
Degree Name:
PhD
Degree Level:
doctoral
Degree Program:
Genetics; Graduate College
Degree Grantor:
University of Arizona
Committee Chair:
Brilliant, Murray H.

Full metadata record

DC FieldValue Language
dc.language.isoENen_US
dc.titleAnalysis Of The Mouse p100H Mutation: Implications For Two Disease Related Genes: P and Sox6en_US
dc.creatorYi, Zanhuaen_US
dc.contributor.authorYi, Zanhuaen_US
dc.date.issued2005en_US
dc.publisherThe University of Arizona.en_US
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_US
dc.description.abstractMy dissertation is focused on the genetics analyses of a mouse mutation, p100H. This mutation is caused by a radiation-induced chromosomal inversion that disrupts both the p gene and Sox6. The human counterparts of these two murine genes are either known to cause human disease (human P gene) or have potential implications in developing a new strategy to treat human disease (SOX6).In the first part of my dissertation (Chapter One, Part I) on the human P gene, I found that all Navajos with albinism carry a homozygous deletion of 122.5 kb of genomic DNA, including exons 10 20 of the P gene, indicating that albinism among the Navajos is OCA2. This deletion of P gene is Navajo-specific, since I did not find this deletion allele in 34 other individuals with albinism who list various other Native American origins. The Navajo-specific P gene deletion came from a founder mutation. The estimated age of the deletion is 400 1,000 years. In addition, as part of my dissertation (Chapter one, Part II), I found that many patients with Hermansky-Pudlak syndrome-like clinical presentations actually carry P gene mutation. This highlights the importance of molecular analysis in clinical diagnosis.In the second part of my dissertation (Chapter Two), I characterized a novel function of the transcription factor Sox6 in red cell development and in the silencing of epsilon globin, an embryonic globin gene. This finding bears significance in the field of globin gene regulation and has an important potential in the development of new therapeutic strategies for treating sickle cell anemia and beta thalassemia.en_US
dc.typetexten_US
dc.typeElectronic Dissertationen_US
dc.subjectGeneticsen_US
thesis.degree.namePhDen_US
thesis.degree.leveldoctoralen_US
thesis.degree.disciplineGeneticsen_US
thesis.degree.disciplineGraduate Collegeen_US
thesis.degree.grantorUniversity of Arizonaen_US
dc.contributor.chairBrilliant, Murray H.en_US
dc.contributor.committeememberErickson, Roberten_US
dc.contributor.committeememberHeidenreich, Randallen_US
dc.contributor.committeememberMartinez, Jesseen_US
dc.contributor.committeememberRunyan, Raymonden_US
dc.identifier.proquest1112en_US
dc.identifier.oclc137354031en_US
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