| NSF Org: |
IOS Division Of Integrative Organismal Systems |
| Recipient: |
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| Initial Amendment Date: | June 25, 2013 |
| Latest Amendment Date: | September 5, 2016 |
| Award Number: | 1258078 |
| Award Instrument: | Continuing Grant |
| Program Manager: |
Paul Krieg
IOS Division Of Integrative Organismal Systems BIO Directorate for Biological Sciences |
| Start Date: | September 1, 2013 |
| End Date: | August 31, 2017 (Estimated) |
| Total Intended Award Amount: | $550,000.00 |
| Total Awarded Amount to Date: | $550,000.00 |
| Funds Obligated to Date: |
FY 2014 = $200,000.00 FY 2015 = $100,000.00 FY 2016 = $50,000.00 |
| History of Investigator: |
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| Recipient Sponsored Research Office: |
70 WASHINGTON SQ S NEW YORK NY US 10012-1019 (212)998-2121 |
| Sponsor Congressional District: |
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| Primary Place of Performance: |
70 Washington Square S New York NY US 10012-1019 |
| Primary Place of
Performance Congressional District: |
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| Unique Entity Identifier (UEI): |
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| Parent UEI: |
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| NSF Program(s): | Evolution of Develp Mechanism |
| Primary Program Source: |
01001415DB NSF RESEARCH & RELATED ACTIVIT 01001516DB NSF RESEARCH & RELATED ACTIVIT 01001617DB NSF RESEARCH & RELATED ACTIVIT |
| Program Reference Code(s): |
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| Program Element Code(s): |
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| Award Agency Code: | 4900 |
| Fund Agency Code: | 4900 |
| Assistance Listing Number(s): | 47.074 |
ABSTRACT
Some genetic differences cause differences in observable traits. For example, differences in genes controlling eye-pigment production lead to differences in eye color. Other genetic differences have no consequence, because they do not affect any biological process in any meaningful way. A third type of genetic difference, called cryptic genetic variation, is the focus of this project. A cryptic genetic variant is inconsequential under normal circumstances, but causes an observable difference under altered circumstances, such as when the environment dramatically changes. Cryptic genetic variation has not been well studied, but it has been proposed to be important in the adaptation of organisms to environmental stress and climate change. The aim of this project is to gain a better understanding of cryptic genetic variation, by studying it in a more systematic, quantitative way than has been done before. The project will use the fly Drosophila melanogaster, the study of which has advanced genetics research for over 100 years. Cryptic genetic variation will be revealed in a diverse collection of flies, and the induced variation in the shapes, sizes and numbers of relevant body parts will be quantified. The underlying cause of the induced variation will be investigated by using a powerful technology to measure, in sets of different flies, the activities of thousands of genes. The expected outcome of the project is an increased understanding of both the extent of cryptic genetic variation and the molecular processes that convert inconsequential genetic variants into ones that cause individuals to appear different. The project will also contribute to the training of young scientists in several ways. The PI is Director of Undergraduate studies for Biology at New York University and is actively involved in placing undergraduate students in research laboratories, including members of groups underrepresented in science. In addition, the PI participates in an Open Education Project, and his lectures on Genomes and Diversity for non-science majors are freely available online. Finally, the PI will participate in public outreach efforts to highlight the relevance of cryptic genetic variation to climate change, in part through an online module on these topics.
PUBLICATIONS PRODUCED AS A RESULT OF THIS RESEARCH
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PROJECT OUTCOMES REPORT
Disclaimer
This Project Outcomes Report for the General Public is displayed verbatim as submitted by the Principal Investigator (PI) for this award. Any opinions, findings, and conclusions or recommendations expressed in this Report are those of the PI and do not necessarily reflect the views of the National Science Foundation; NSF has not approved or endorsed its content.
Some genetic differences cause differences in observable traits. For example, differences in genes controlling eye-pigment production lead to differences in eye color. Other genetic differences have no consequence, because they do not affect any biological process in any meaningful way. A third type of genetic difference, called “cryptic genetic variation,” was the focus of this project. A cryptic genetic variant is inconsequential under normal circumstances, but causes an observable difference under altered circumstances, such as when the environment dramatically changes or a major genetic perturbation occurs. Cryptic genetic variation has not been well studied, but it has been proposed to be important in the adaptation of organisms to climate change as well as in the increasing prevalence of human diseases, such as type 2 diabetes, that are related to modern diet or lifestyle. The aim of this project was to gain a better understanding of cryptic genetic variation, by studying it in a more systematic, quantitative way than had been done before.
The project used the fly Drosophila melanogaster, the study of which has advanced genetics research for over 100 years. Mutations in two developmentally important genes served as major genetic perturbations. We developed methods for efficiently making a large panel of fly lines that share the same mutation but are otherwise genetically diverse, and we created such panels for the two genes’ mutations. Because our experiments required very large sample sizes (many individual flies from many lines), we also developed workflows for measuring the shapes, sizes and numbers of relevant fly body parts with high speed and high precision. Our experiments gave evidence of abundant cryptic genetic variation and will provide a rich data set that we and others can use to determine how perturbations cause cryptic genetic variation to alter traits. Through the course of our experiments we also discovered a previously undescribed function for one of the genes, which had been thought to be involved only in female development but we found to have an important role early in development in males and females. This project therefore will have impact not only in the study of cryptic genetic variation but also in the study of embryogenesis and sexual development.
This project also contributed to the education of trainees and the general public. Undergraduate and graduate students, and a postdoctoral researcher, were mentored and trained through their participation in this project. In addition, we held several outreach events that drew students from groups under-represented in science. Each event included a presentation on the importance of cryptic genetic variation, a tour of the research laboratories, and discussion of opportunities to join research labs and to pursue biology-related careers. The presentations were recorded and made available online for broad dissemination.
Last Modified: 12/23/2017
Modified by: Mark L Siegal
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