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Function of albinism gene oca2 in non-melanocyte cell development

Award Number: R03HD103609
ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 07/14/2021
PERIOD OF PERFORMANCE END DATE: 06/30/2024

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Function of albinism gene oca2 in non-melanocyte cell development - Project summary Loss of function mutations in the oculocutaneous albinism 2 (oca2) gene not only lead to defects in black pigment (melanin) synthesis important for skin color, but also increase the chances of developing “side” or “pleiotropic” effects. Some examples of pleiotropic effects include deficiencies in sensory or neural system development, as well as embryonic death depending on the identity of the mutated gene. Although pleiotropic effects are commonly observed in humans with hypopigmentation disorders like Waardenburg Syndrome and albinism, the underlying mechanisms are poorly understood primarily due to low sample size. Because pigment cells are easily viewed through transparent skin and eggs can be collected in high numbers year round, we propose to use zebrafish silver cells to better understand how pleiotropic effects arise. When oca2 is mutated, zebrafish larvae continue to make the correct number of black pigment cells, melanocytes, but melanin synthesis is severely decreased. Conversely, silver pigment cells do not express oca2, but are increased in number at stages following specification from neural crest. Using oca2 mutant iridophores as a model, we will address the following R03 specific aims: 1) Determine the iridophore developmental stages impacted by oca2 function. With aim 1 experiments, we will retest the role of oca2 in iridophore specification and examine iridophore development at multiple, additional stages including proliferation, differentiation and survival – all cellular events that could impact cell number; 2) Determine if oca2 directly or indirectly regulates iridophore number. Using our unique collection of melanocyte mutants, we will determine if oca2 directly (cell-autonomously) or indirectly (non- cell autonomously) regulates iridophore development. In additional experiments, we will conduct pilot [bulk and single cell RNA-Seq] analysis to determine if these methods can provide insight into oca2’s autonomous versus non-autonomous role during iridophore development. Specifically, these RNA-seq data will be analyzed to determine whether changes in the expression of intrinsic or extrinsic genes important for iridophore development occur with oca2 loss of function. Once these experiments are complete, we will have a characterized model for testing oca2 function in pleiotropic effects and a substantial amount of preliminary data for formulating hypotheses appropriate for R01 level research aimed at elucidating mechanistic connections between melanocytes/melanin and hearing/visual/skin system development in humans.


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 = -$7,624 )
2025	2022	WASHINGTON STATE UNIVERSITY	240 FRENCH ADMINISTRATION BLDG	PULLMAN	WA	99164	WHITMAN	USA	Child Health and Human Development Extramural Research	000	2	11/20/2024	NON-COMPETING CONTINUATION	-$7,624
														Subtotal = -$7,624

Issue Date FY: 2022 ( Subtotal = $76,500 )
2022	2022	WASHINGTON STATE UNIVERSITY	240 FRENCH ADMINISTRATION BLDG	PULLMAN	WA	99164	WHITMAN	USA	Child Health and Human Development Extramural Research	000	2	6/16/2022	NON-COMPETING CONTINUATION	$76,500
														Subtotal = $76,500

Issue Date FY: 2021 ( Subtotal = $76,500 )
2021	2021	WASHINGTON STATE UNIVERSITY	240 FRENCH ADMINISTRATION BLDG	PULLMAN	WA	99164	WHITMAN	USA	Child Health and Human Development Extramural Research	000	1	7/13/2021	NEW	$76,500
														Subtotal = $76,500

Grand Total All Awards = $145,376

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Function of albinism gene oca2 in non-melanocyte cell development

Award Number: R03HD103609

ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 07/14/2021

PERIOD OF PERFORMANCE END DATE: 06/30/2024

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