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Genetic studies of a pleiotropic transmembrane protease: insight from color variation in non-model organisms

Award Number: R01AR082708
ORGANIZATION: NATIONAL INSTITUTE OF ARTHRITIS & MUSCULOSKELETAL & SKIN DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 01/01/2024
PERIOD OF PERFORMANCE END DATE: 06/30/2028

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Genetic studies of a pleiotropic transmembrane protease: insight from color variation in non-model organisms - Project Summary/Abstract Mendelian variation in pigmentation is a rich genetic resource to identify and study signaling pathways relevant to human biology, but the repertoire of mutations that affect pigmentation in mice and in humans coat color has become saturated. Advances in genome sequencing technology now extend the reach of forward genetics beyond humans and model organisms to domestic and wild animals, for which there are many pigmentary phenotypes likely to represent conserved signaling pathways but whose molecular basis is unknown. Using pigmentary variation in domestic cats, our research group discovered a striking connection between a novel transmembrane protease encoded by Transmembrane aminopeptidase Q (Taqpep) and a secreted Wnt inhibitor encoded by Dickkopf 4 (Dkk4). Initial studies of Taqpep knockout mice reveal a role in multiple cell types and tissues including hair, the enteric nervous system, and the palate. In a different non-model organism, the plains zebra, Taqpep is a candidate gene for aberrant striping in an isolated population in Rwanda. Our results point to a central role for Taqpep in pathways and tissues that are directly relevant to human biology and disease, but a molecular understanding of those pathways is most effectively approached by combining forward genetics for gene discovery in non-model mammalian organisms with experimental genetics in laboratory mice and studies in cultured mammalian cells. We propose to: (1) Identify additional components of Taqpep action by forward genetics in Bengal cats and by analysis of fetal cat skin (2) Expand initial genetic studies of color pattern variation in zebras (3) Determine the mechanism of Taqpep action using experimental mouse genetics and proteomics


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 = $615,003 )
2025	2025	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	4	7/23/2025	NON-COMPETING CONTINUATION	$615,003
														Subtotal = $615,003

Issue Date FY: 2024 ( Subtotal = $716,904 )
2024	2024	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Arthritis, Musculoskeletal and Skin Diseases Research	004	3	7/3/2024	NON-COMPETING CONTINUATION	$665,448
2024	2023	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Arthritis, Musculoskeletal and Skin Diseases Research	003	2	7/1/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$1,364
2024	2023	HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY	601 GENOME WAY	HUNTSVILLE	AL	35806	MADISON	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	1	3/21/2024	NEW	-$319,730
2024	2023	HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY	601 GENOME WAY	HUNTSVILLE	AL	35806	MADISON	USA	Arthritis, Musculoskeletal and Skin Diseases Research	002	1	7/1/2024	NEW	-$1,364
2024	2023	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Arthritis, Musculoskeletal and Skin Diseases Research	001	2	3/21/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$371,186
														Subtotal = $716,904

Issue Date FY: 2023 ( Subtotal = $626,483 )
2023	2023	HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY	601 GENOME WAY	HUNTSVILLE	AL	35806	MADISON	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	1	8/4/2023	NEW	$626,483
														Subtotal = $626,483

Grand Total All Awards = $1,958,390

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Genetic studies of a pleiotropic transmembrane protease: insight from color variation in non-model organisms

Award Number: R01AR082708

ORGANIZATION: NATIONAL INSTITUTE OF ARTHRITIS & MUSCULOSKELETAL & SKIN DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 01/01/2024

PERIOD OF PERFORMANCE END DATE: 06/30/2028

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