# Exonizaton of Alu Insertion Polymorphisms

> **NIH NIH R01** · DANA-FARBER CANCER INST · 2020 · $293,948

## Abstract

Common genetic variants contribute to a wide spectrum of human phenotypes and risks of
developing many types of diseases. Differentiating causative from non-functional variants and
understanding molecular mechanisms of the former together represent important challenges.
Alu interspersed repeats are a common type of structural variant in the human genome. Alu insertions
are intrinsically capable of impacting mRNA sequence and resulting in disease - even when the
repeat is positioned in apparently non-coding, intronic sequence within the gene locus.
Our hypothesis is that some inherited Alu insertion polymorphisms are functioning as causative
variants for human disease risk. We propose to narrow the list of candidates by identifying those Alu
insertions that associate with disease risk and that impact the structure of a relevant mRNA transcript.
We will develop computational approaches to identify Alu exonization events in RNA-seq data, and
we will experimentally evaluate Alu insertion polymorphisms for effects on mRNA splicing using
reporter assays and genome editing strategies.

## Key facts

- **NIH application ID:** 10227617
- **Project number:** 7R01GM124531-04
- **Recipient organization:** DANA-FARBER CANCER INST
- **Principal Investigator:** KATHLEEN H BURNS
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $293,948
- **Award type:** 7
- **Project period:** 2017-09-15 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10227617

## Citation

> US National Institutes of Health, RePORTER application 10227617, Exonizaton of Alu Insertion Polymorphisms (7R01GM124531-04). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10227617. Licensed CC0.

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