# Homologous sequences and their effects on genome biology

> **NIH NIH R35** · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · 2022 · $409,838

## Abstract

PROJECT SUMMARY / ABSTRACT
 The human genome is replete with the remnants of transposition that have accumulated throughout the
mammalian radiation, and is ongoing in human populations today. These sequences comprise ~50% of human
DNA, but the impact that transposable elements and other repetitive DNAs have on our genome remain poorly
understood. How the genome contends with repetitive DNA is key to our improved understanding of genome
biology as well as understanding disease processes in constitutional and somatic disorders. To investigate
these questions requires thorough understanding not only of repetitive DNA, but also how these sequences
impact our ability to capture genomic information from current sequencing technologies and methodologies.
The goal of my research is to reveal the impacts of homologous sequences on mammalian genomes and the
mechanisms that guide genomic instability fostered by repeat sequences. For the next 5 years, I will primarily
focus on determining the prevalence of repetitive sequence-mediated genomic instability and the mechanisms
driving this instability in mammalian genomes. I hypothesize that repeats play an important role in fostering
genomic rearrangements that can lead to disease and variation in the population. To study this process, we will
examine the prevalence of transposable element-mediated rearrangements in human and mouse genomes
and investigate the ability of various sequencing methodologies and calling algorithms to identify these events.
We will apply our knowledge to somatic tandem duplications, and infer mechanisms of junction formation in the
generation of these events. We seek to identify key mechanistic features of the genomic rearrangements found
to be mediated by repeats, and will also examine genes that control ectopic recombination between repeats.
Finally, to extend our models of this instability and to develop a more comprehensive view of the impact of
transposons on genes in which they reside, we will examine the role of transposable elements in genome
folding and in alternative splicing. Successful completion of these investigations will greatly increase the
existing knowledge of repeat-mediated rearrangements in mammalian genomes, and will expand our
understanding of how repeats influence genome biology.

## Key facts

- **NIH application ID:** 10468734
- **Project number:** 5R35GM133600-04
- **Recipient organization:** UNIVERSITY OF CONNECTICUT SCH OF MED/DNT
- **Principal Investigator:** Christine R Beck
- **Activity code:** R35 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $409,838
- **Award type:** 5
- **Project period:** 2019-09-01 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10468734

## Citation

> US National Institutes of Health, RePORTER application 10468734, Homologous sequences and their effects on genome biology (5R35GM133600-04). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10468734. Licensed CC0.

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