# Human centromere variation and function

> **NIH NIH K99** · UNIVERSITY OF WASHINGTON · 2022 · $100,000

## Abstract

Project Summary/Abstract
The equal segregation of chromosomes during cell division ensures the accurate inheritance of genetic
information. Aberrant chromosome segregation can cause an imbalance in chromosome number, or aneuploidy,
which can result in spontaneous abortion and birth defects and is a major cause of cancer. The locus required
for the equal segregation of chromosomes is the centromere. In humans, centromeres are comprised of
repetitive α-satellite sequences that span several megabases on each chromosome. The repetitive nature of
these regions has challenged efforts to determine their sequence, structure, and variation using short-read
sequencing data. As a result, we have a very limited understanding of the natural variation of centromeres and
the impact of this variation on essential cell biological process critical for life. In this proposal, I aim to address
this gap in knowledge by sequencing and assembling centromeres from diverse humans using a combination of
long-read sequencing technologies and novel computational assembly tools (Aim 1; K99 phase). Additionally,
I propose to assess the natural variation of human centromeres at the genetic, epigenetic, and transcriptional
level using innovative computational methods and multiomic sequencing approaches, ultimately building a model
of human centromere variation (Aim 2; K99 phase). Finally, I propose to determine how variation among
centromeres affects the accurate segregation of chromosomes during cell division using cell-based assays, long-
read sequencing, and multiomic sequencing approaches (Aim 3; R00 phase). Together, this work will provide
the first comprehensive assessment of human centromere variation and reveal how this variation affects
centromere function in cells. The tools, resources, and skills developed in the K99 phase will be applied in the
R00 phase to determine the functional consequences of centromere variation and its role in human health and
disease. My goal is to build an independent research program that spans the gap between genomics and
centromere biology. I will receive the necessary interdisciplinary training from my mentor (Dr. Evan Eichler), co-
mentor (Dr. Sue Biggins), and the rest of my postdoctoral advisory committee (Drs. Deborah Nickerson, Andrew
Stergachis, and Kelley Harris). In addition, I will participate in career development activities offered through the
University of Washington and the Fred Hutchison Cancer Research Center. Together, my research training,
mentors, advisory committee, and academic environment will prepare me well as I transition to an independent
position as an academic scientist.

## Key facts

- **NIH application ID:** 10506033
- **Project number:** 1K99GM147352-01
- **Recipient organization:** UNIVERSITY OF WASHINGTON
- **Principal Investigator:** Glennis Amelia Logsdon
- **Activity code:** K99 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $100,000
- **Award type:** 1
- **Project period:** 2022-08-01 → 2023-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10506033

## Citation

> US National Institutes of Health, RePORTER application 10506033, Human centromere variation and function (1K99GM147352-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10506033. Licensed CC0.

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