Genetics and genomics of mammalian pigment patterns

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Abstract/Contents

Abstract
Hundreds of coat color loci have been cloned and studied in the laboratory mouse, and most aspects of the mouse pigmentary system are conserved in other mammals. However, comparative zoologic studies suggest that some components of mammalian pigmentation are not represented as coat color mutations in laboratory mice. This dissertation aims to advance our molecular understanding of mammalian pigmentation, and strives to identify novel components of the genetic toolkit involved in generating the diverse array of coat color patterns found in nature. In the Syrian hamster, X-linked inheritance of the Sex-linked yellow (Sly) mutation results in irregular patches of black and yellow hair in heterozygous females. Femalespecific variegation of black and yellow coat color is also present in the domestic cat, but curiously absent from other vertebrate species. Using a combination of comparative genomics and linkage mapping, I made key contributions towards defining a candidate interval for the Sly mutation and discovering that the hamster and cat mutations lie in non-homologous regions of the X chromosome. Periodic color patterns on animal skin, such as cheetah spots and zebra stripes, are evident across the mammalian phylogeny, but their molecular basis remains a mystery. Taking advantage of improvements in ultra high-throughput sequencing technologies, I developed a methodology called EDGE, or EcoP15I-tagged Digital Gene Expression, that is well suited for gene expression profiling in non-model organisms. Applying EDGE to black spot and yellow background regions of cheetah skin, I discovered that localized differences in Endothelin-3 expression is likely to be responsible for maintaining black spotting through a pigment-type switching mechanism in hair follicle melanocytes. The use of EDGE and other genomic approaches to generate comparative molecular profiles of mammalian skin patterns is likely to open new avenues of research into mammalian pigment patterning and initiate a molecular renaissance for a set of questions that has mostly resided in the area of theoretical biology for the past few decades.

Description

Type of resource text
Form electronic; electronic resource; remote
Extent 1 online resource.
Publication date 2011
Issuance monographic
Language English

Creators/Contributors

Associated with Hong, Lewis Zuocheng
Associated with Stanford University, Department of Genetics
Primary advisor Barsh, Gregory Stefan
Thesis advisor Barsh, Gregory Stefan
Thesis advisor Fire, Andrew Zachary
Thesis advisor Kingsley, David M. (David Mark)
Thesis advisor Sidow, Arend
Advisor Fire, Andrew Zachary
Advisor Kingsley, David M. (David Mark)
Advisor Sidow, Arend

Subjects

Genre Theses

Bibliographic information

Statement of responsibility Lewis Zuocheng Hong.
Note Submitted to the Department of Genetics.
Thesis Thesis (Ph.D.)--Stanford University, 2011.
Location electronic resource

Access conditions

Copyright
© 2011 by Zuocheng Lewis Hong
License
This work is licensed under a Creative Commons Attribution Non Commercial 3.0 Unported license (CC BY-NC).

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