The role of dosage sensitive genes in aneuploid phenotypes
Name
951537668-MIT.pdf
Description
Full printable version
Size
11.62 MB
Format
Adobe PDF
Checksum (MD5)
2a04f6158f3fa353bd87406769b0e140
Author(s)
Bonney, Megan Ellis
Advisor(s)
Angelika Amon.
Date Issued
2016
Publisher
Massachusetts Institute of Technology
Abstract
Aneuploidy-the gain or loss of one or more whole chromosomes-typically has an adverse impact on organismal fitness, manifest in conditions such as Down syndrome. A central question is whether aneuploid phenotypes are the consequence of copy number changes of a few especially harmful genes that may be present on the extra chromosome, or are caused by copy number alterations of many genes that confer no observable phenotype when varied individually. We used the proliferation defect exhibited by budding yeast strains carrying single additional chromosomes (disomes) to distinguish between the "few critical genes hypothesis" and the "mass action of genes hypothesis". Our results indicate that subtle changes in gene dosage across a chromosome can have significant phenotypic consequences. We conclude that phenotypic thresholds can be crossed by mass action of copy number changes that on their own are benign.
Description
Thesis: Ph. D., Massachusetts Institute of Technology, Department of Biology, 2016.
Cataloged from PDF version of thesis.
Includes bibliographical references.
Subjects
Biology.
MIT Department
Massachusetts Institute of Technology. Department of Biology
Terms of Use
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