# The Role of Retroelements in Centromere Function

> **NIH NIH R01** · UNIVERSITY OF CONNECTICUT STORRS · 2022 · $74,970

## Abstract

Project Summary
With the completion of the Human Genome via the Telomere-to-Telomere Consortium, a
complete characterization of the centromeric, pericentromeric, and telomeric regions of every
chromosome, including the repeats (satellite remnants, transposable elements (TEs), retroviral
insertions, etc.) is conceivable. Although it is widely accepted that centromeres are essential and
necessary for proper chromosome segregation during cell division, there is a significant lack in
fully understanding centromere dynamics. The limitations of previous technology are at the core
of this knowledge gap in centromere entology. Current advances in sequencing and
bioinformatic techniques provide an effective means to characterize and identify heterochromatic
regions of the genome. Previous studies uncovered centromeric regions as more than long
tandem arrays of higher order satellite repeats (HORs) that are comprised of transcriptionally
active retroelement insertions displaying that repeat and retroelement transcription is necessary
to identify topologically associating domains (TADs), understand the influences on 3D genome
structure, and the modulation of activity of genes. We propose to determine how centromere
transposable element (cenTEs) sequences influence centromeric function, and thus genome
integrity in humans. This project provides a comprehensive analysis of the centromere landscape
by studying three objectives. One, determine whether cenTEs are required transcription
initiators in centromere assembly by delineating sites of transcription, and testing the impact of
transcription initiation on assembly. Two, explain whether cenTEs are epigenetic drivers of
centromere chromatin assembly by determining post-transcriptional localization of cenTE RNAs,
test the impact of transcripts on centromere assembly, and describe cenTE mobile activity. And
three, this study explains whether cenTEs are required for pre-and post- centromere stabilization
by utilizing human artificial chromosome assays and long read sequencing. These findings will
provide a novel understanding of centromere function and fitness. A comprehensive study such
as this is paramount to understanding the complexities of human diseases such as cancer. This
current technological golden age enables researchers to ask new questions to old problems
utilizing creative techniques.

## Key facts

- **NIH application ID:** 10652805
- **Project number:** 3R01GM123312-04S1
- **Recipient organization:** UNIVERSITY OF CONNECTICUT STORRS
- **Principal Investigator:** Rachel O'Neill
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $74,970
- **Award type:** 3
- **Project period:** 2019-09-19 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10652805

## Citation

> US National Institutes of Health, RePORTER application 10652805, The Role of Retroelements in Centromere Function (3R01GM123312-04S1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10652805. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*