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snow white, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5

Daly, Christina M S, Willer, Jason, Gregg, Ronald, Gross, Jeffrey M·2013·Genetics
DOI 10.1534/genetics.113.154898
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Abstract

Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases caused by mutations in one of nine known HPS genes. HPS patients display oculocutaneous hypopigmentation and bleeding diathesis and, depending on the disease subtype, pulmonary fibrosis, congenital nystagmus, reduced visual acuity, and platelet aggregation deficiency. Mouse models for all known HPS subtypes have contributed greatly to our understanding of the disease, but many of the molecular and cellular mechanisms underlying HPS remain unknown. Here, we characterize ocular defects in the zebrafish (Danio rerio) mutant snow white (snw), which possesses a recessive, missense mutation in hps5 (hps5I76N). Melanosome biogenesis is disrupted in snw/hps5 mutants, resulting in hypopigmentation, a significant decrease in the number, size, and maturity of melanosomes, and the presence of ectopic multi-melanosome clusters throughout the mutant retina and choroid. snw/hps5I76N is the first Hps5 mutation identified within the N-terminal WD40 repeat protein–protein binding domain. Through in vitro coexpression assays, we demonstrate that Hps5I76N retains the ability to bind its protein complex partners, Hps3 and Hps6. Furthermore, while Hps5 and Hps6 stabilize each other’s expression, this stabilization is disrupted by Hps5I76N. The snw/hps5I76N mutant provides a valuable resource for structure–function analyses of Hps5 and enables further elucidation of the molecular and cellular mechanisms underlying HPS.

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  • The phenotypes of rab32a and hps5 mutants suggest distinct contributions to crystal morphology and organelle maturation.

    “Notably, the phenotypes of rab32a and hps5 mutants suggest distinct contributions also to crystal morphology and organelle maturation, mirroring the specialized trafficking roles previously ascribed to these proteins in melanosomes (30, 41, 85, 90, 91).”

    From Lysosome-related organelles orchestrate guanine crystal formation in pigment cells (2026) · cites this paper as [30]

    The section “Melanosome maturation is disrupted in snw/hps5 mutants” reports fewer mature melanosomes and suggests that Hps5 may have a role in iridophore formation. It does not examine crystal morphology or compare hps5 mutants with rab32a mutants, so it supports only the Hps5-related organelle-maturation part of the claim. (LLM, conf=0.88)

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Metadata

Authors
Daly, C. M. S., Willer, J., Gregg, R., & Gross, J. M.
Affiliations
  • Molecular, Cell and Developmental Biology, Institute for Cell and Molecular Biology, The University of Texas at Austin, Texas 78722
  • Center for Human Disease Modeling, Cell Biology Department, Duke University, Durham, North Carolina 27710
  • Department of Biochemistry and Molecular Biology, University of Louisville, Kentucky 40202
Venue
Genetics
Publisher
Oxford University Press (OUP)
Published
2013-10-01
Volume
195
Issue
2
Pages
481-494
ISSN
1943-2631
DOI
10.1534/genetics.113.154898
Cited by
33
References
2
Language
en
Licence
academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)

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