# Centromere Sequence, Variation, and Function

> **NIH NIH F32** · UNIVERSITY OF WASHINGTON · 2020 · $65,310

## Abstract

Project Summary/Abstract
The accurate segregation of chromosomes ensures the faithful inheritance of genetic information. Defects in
chromosome segregation can cause an imbalance in chromosome number, or aneuploidy, which is the leading
cause of over 90% of human cancers and contributes to spontaneous abortion and birth defects (e.g. Down
syndrome). The locus that ensures that chromosomes are equally segregated during cell division is the
centromere. Centromeres are comprised of repetitive α-satellite that span several megabases on each
chromosome. The repetitive nature of these regions has posed an enormous challenge to standard short-read
sequencing and assembly methods, and as a result, all centromeres remain unassembled in the human genome.
The lack of centromere sequence assemblies has greatly hindered our understanding of the role these
sequences play in essential cell biological processes required to maintain genome integrity. This proposal aims
to address this gap in knowledge by generating linear sequence assemblies of each human centromere using a
combination of long-read sequencing technologies and novel computational assembly tools. The proposed work
will also reconstruct the evolutionary history of centromeres by elucidating the genetic variation of centromeres
in humans and apes. In addition, this work will uncover how genetic variation at centromeres impacts the
transcriptional landscape by sequencing and annotating full-length centromeric transcripts in the human genome.
Finally, this proposal will determine if genetic variation at centromeres impacts the ability of chromosomes to be
accurately segregated during cell division using cell-based assays. Taken together, this research will uncover
the linear organization of human centromeric regions and elucidate how genetic variation in these regions
impacts the accuracy of chromosome segregation during cell division.

## Key facts

- **NIH application ID:** 10001975
- **Project number:** 5F32GM134558-02
- **Recipient organization:** UNIVERSITY OF WASHINGTON
- **Principal Investigator:** Glennis Amelia Logsdon
- **Activity code:** F32 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $65,310
- **Award type:** 5
- **Project period:** 2019-08-01 → 2022-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10001975

## Citation

> US National Institutes of Health, RePORTER application 10001975, Centromere Sequence, Variation, and Function (5F32GM134558-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10001975. Licensed CC0.

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