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Transposable Element Interaction and Its Impact on Human Development and Health

Award Number: DP5OD033430
ORGANIZATION: OFFICE OF THE DIRECTOR, NIH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/15/2022
PERIOD OF PERFORMANCE END DATE: 06/07/2024

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Transposable Element Interaction and Its Impact on Human Development and Health - Summary of Parent Award This is a proposed supplement to Dr. Bo Xia’s NIH Director’s Early Independence Award (DP5OD033430) titled: “Transposable Element Interaction and Its Impact on Human Development and Health”. Below is the abstract of this parent award: One of the most surprising discoveries from the Human Genome Project is that only about 1.5% of the genome codes for proteins, whereas around 46% comprises transposable elements (TEs). Functional assessment of how these ubiquitous TEs affect human development and health has posed a major challenge. While most TEs are considered non-functional, or “junk” DNA, here I argue that TE-induced gene regulation is strongly underestimated due to the historical tendency to explore TE functionality by studying individual TEs independently of each other. I propose to provide a novel framework to study how interactions between the hitherto “junk” TE sequences can regulate pre- mRNA splicing to affect gene function, and investigate whether such a mechanism could substantially affect both human development and evolution, and help explain the genetic etiology of human diseases. This proposal is inspired from my recent discovery that the interaction between a pair of Alu retrotransposons may explain the long-sought genetic basis for the evolution of tail loss in human and apes. Based on this work and my preliminary data, I will first use the Alu pair interaction in TBXT gene as a model to demonstrate that the interaction between intronic TEs can profoundly impact human development and health, and explain the etiology of a common genetic disease (Aim 1). Aim 2 proposes to test the hypothesis that the isoform of TBXT induced by interaction of the Alu pair pleiotropically contributes to strengthening of hindlimbs, thus directly testing the long-standing hypothesis that the tail-loss evolution in hominoids is associated with bipedal locomotion evolution (Aim 2). Beyond the specific interaction of the Alu pair in the TBXT gene, Aim 3 will develop an algorithm called TEILO (Transposable Element Interaction & Local Organization) to systematically identify the functional TE interactions that affect gene function and human health by modulating alternative splicing. This work premises a new paradigm to studying the interaction between TEs and its implication to human health and diseases.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2025 ( Subtotal = -$27,841 )
2025	2023	THE BROAD INSTITUTE, INC	415 MAIN ST	CAMBRIDGE	MA	02142	MIDDLESEX	USA	Trans-NIH Research Support	000	2	12/19/2024	SUPPLEMENT FOR EXPANSION	-$27,841
														Subtotal = -$27,841

Issue Date FY: 2024 ( Subtotal = $392,120 )
2024	2024	THE BROAD INSTITUTE, INC	415 MAIN ST	CAMBRIDGE	MA	02142	MIDDLESEX	USA	Trans-NIH Research Support	000	3	8/12/2024	NON-COMPETING CONTINUATION	$367,040
2024	2024	THE BROAD INSTITUTE, INC	415 MAIN ST	CAMBRIDGE	MA	02142	MIDDLESEX	USA	Trans-NIH Research Support	001	3	8/15/2024	NON-COMPETING CONTINUATION	$25,080
														Subtotal = $392,120

Issue Date FY: 2023 ( Subtotal = $412,234 )
2023	2023	BROAD INSTITUTE, INC., THE	415 MAIN ST	CAMBRIDGE	MA	02142	MIDDLESEX	USA	Trans-NIH Research Support	002	2	9/5/2023	SUPPLEMENT FOR EXPANSION	$47,994
2023	2023	BROAD INSTITUTE, INC., THE	415 MAIN ST	CAMBRIDGE	MA	02142	MIDDLESEX	USA	Trans-NIH Research Support	001	2	9/1/2023	NON-COMPETING CONTINUATION	$364,240
2023	2022	BROAD INSTITUTE, INC., THE	415 MAIN ST	CAMBRIDGE	MA	02142	MIDDLESEX	USA	Trans-NIH Research Support	000	1	10/17/2022	NEW	$0
														Subtotal = $412,234

Issue Date FY: 2022 ( Subtotal = $349,120 )
2022	2022	BROAD INSTITUTE, INC., THE	415 MAIN ST	CAMBRIDGE	MA	02142	MIDDLESEX	USA	Trans-NIH Research Support	000	1	9/15/2022	NEW	$349,120
														Subtotal = $349,120

Grand Total All Awards = $1,125,633

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Transposable Element Interaction and Its Impact on Human Development and Health

Award Number: DP5OD033430

ORGANIZATION: OFFICE OF THE DIRECTOR, NIH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 09/15/2022

PERIOD OF PERFORMANCE END DATE: 06/07/2024

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