Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice

Nature Genetics

Volumn 30, Issue 1, 2002, Pages 81-85

  Anderson, Michael G ^a,b   Smith, Richard S ^a,b   Hawes, Norman L ^b   Zabaleta, Adriana ^b   Chang, Bo ^b   Wiggs, Janey L ^c   John, Simon W M ^a,b,d  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b JACKSON LABORATORY   (United States)

^c MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^d TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL TISSUE; ARTICLE; BLINDNESS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GLAUCOMA; HYPOPIGMENTATION; MELANOSOME; MOUSE; NONHUMAN; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; STOP CODON; TRANSGENIC MOUSE;

ANIMALS; ATROPHY; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CODON, NONSENSE; CODON, TERMINATOR; CROSSES, GENETIC; EPISTASIS, GENETIC; EYE PROTEINS; GENETIC PREDISPOSITION TO DISEASE; GLAUCOMA, OPEN-ANGLE; HAPLOTYPES; HUMANS; IRIS; MELANOSOMES; MEMBRANE GLYCOPROTEINS; MICE; MICE, INBRED C57BL; MICE, INBRED DBA; MOLECULAR SEQUENCE DATA; OXIDOREDUCTASES; PIGMENTS, BIOLOGICAL; PROTEINS; RECOMBINATION, GENETIC; SPECIFIC PATHOGEN-FREE ORGANISMS;

ANIMALIA; MUS MUSCULUS;

EID: 0036334266     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng794     Document Type: Article

References (30)

1. Pigmentary glaucoma. A 25-year review
2. Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice
3. Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice
4. Prevalence of pigment dispersion syndrome in a population undergoing glaucoma screening
5. A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36
6. Characterization of a new melanocyte-specific gene (QNR-71) expressed in v-myc-transformed quail neuroretina
7. nmb, a novel gene, is expressed in low-metastatic human melanoma cell lines and xenografts
8. Intracellular sorting and targeting of melanosomal membrane proteins: Identification of signals for sorting of the human brown locus protein, gp75
9. Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1
10. Sandy: A new mouse model for platelet storage pool deficiency
11. Hotfoot mouse mutations affect the delta 2 glutamate receptor gene and are allelic to lurcher
12. Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice
13. The molecular basis of brown, an old mouse mutation, and of an induced revertant to wild type
14. Light is a dominant mouse mutation resulting in premature cell death
15. The Pmel 17/silver locus protein. Characterization and investigation of its melanogenic function
16. Glycoproteins as differentiation markers in human malignant melanoma and melanocytes
17. Genetic variations in the fine structure and ontogeny of mouse melanin granules
18. Tyrosinase stabilization by Tyrp1 (the brown locus protein)
19. Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity
20. Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis
21. Human tyrosinase related protein-1 (TRP-1) does not function as a DHICA oxidase activity in contrast to murine TRP-1
22. The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
23. The incidence and time-course of latanoprost-induced iridial pigmentation as a function of eye color
24. Latanoprost-induced increase of tyrosinase transcription in iridial melanocytes
25. Transcriptional activation of tyrosinase and TRP-1 by p53 links UV irradiation to the protective tanning response
26. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene
27. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as OCA3