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Dissecting out differential molecular phenotypes across Lysine(K) AcetylTransferase mutations in mouse development

Award Number: R21OD035421
ORGANIZATION: OFFICE OF THE DIRECTOR, NIH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 08/01/2023
PERIOD OF PERFORMANCE END DATE: 07/31/2025

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Dissecting out differential molecular phenotypes across Lysine(K) AcetylTransferase mutations in mouse development - PROJECT ABSTRACT Epigenetic factors are genes that encode proteins that can affect spatial organization of DNA and the accessibility of genetic regions to transcriptional machinery, thereby regulating cell-type specific transcription. Pathogenic mutations in established epigenes are highly enriched in children with pediatric syndromic disorders, often with symptoms that affect multiple organ systems, such as the brain, heart, gastrointestinal tract, bone, eye and kidneys. The associated symptoms of intellectual disability, developmental delays, autism, diarrhea and congenital heart defects vary in severity between individuals. The onset of these syndromes during early childhood suggest that many of these epigenetic factors are critical to early developmental processes and cell- fate transitions. Despite our improved diagnostic ability with exome sequencing, the mechanistic link between epigenetic factor mutations and the direct mechanisms by which they disrupt mammalian developmental processes remains unknown. Histone acetyltransferases (HATs) are genes that acetylate lysine (K) residues and represent a common mechanism for controlling DNA accessibility to the transcriptional machinery. Here, we study protein-truncating variants in two HATs: Lysine (K), Acetyl transferase 6A and 6B (KAT6A and KAT6B), which cause Arboleda-Tham Syndrome (ARTHS) and Genitopatellar Syndrome (GPS) or Say-Barber-Biesecker- Young Syndrome (SBBYS), respectively. Our goal is to develop and validate transgenic mouse models harboring patient-specific mutations in these genes to establish the differential roles of these epigenetic factors on cell specification during development driving the distinct syndromes.


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: 2026 ( Subtotal = $0 )
2026	2024	UNIVERSITY OF CALIFORNIA, LOS ANGELES	10889 WILSHIRE BLVD STE 700	LOS ANGELES	CA	90024	LOS ANGELES	USA	Research Infrastructure Programs	000	2	12/12/2025	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2024 ( Subtotal = $191,244 )
2024	2024	UNIVERSITY OF CALIFORNIA, LOS ANGELES	10889 WILSHIRE BLVD STE 700	LOS ANGELES	CA	90024	LOS ANGELES	USA	Research Infrastructure Programs	000	2	7/9/2024	NON-COMPETING CONTINUATION	$191,244
														Subtotal = $191,244

Issue Date FY: 2023 ( Subtotal = $230,494 )
2023	2023	UNIVERSITY OF CALIFORNIA, LOS ANGELES	10889 WILSHIRE BLVD STE 700	LOS ANGELES	CA	90024	LOS ANGELES	USA	Research Infrastructure Programs	000	1	7/20/2023	NEW	$230,494
														Subtotal = $230,494

Grand Total All Awards = $421,738

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Dissecting out differential molecular phenotypes across Lysine(K) AcetylTransferase mutations in mouse development

Award Number: R21OD035421

ORGANIZATION: OFFICE OF THE DIRECTOR, NIH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 08/01/2023

PERIOD OF PERFORMANCE END DATE: 07/31/2025

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