Disease relevance of Eye Color

• The mouse mutant mocha, a model for the Hermansky-Pudlak storage pool deficiency syndrome, is characterized by defective platelets, coat and eye color dilution, lysosomal abnormalities, inner ear degeneration, and neurological deficits [1].
• White spots on the other hand were equally large in size, irrespective of inducing agent and about twice the size of the chemically-induced red spots, implying a faster and more direct action for fixation of deletions than for the production of MMS induced shifts in eye color from zeste to red [2].
• For subjects treated with cyclopentolate, this decreased mydriasis was related to age (P less than .05) and to eye color (P less than .025): the younger and blue-eyed subjects dilated less on the second day than the older and brown-eyed subjects [3].

High impact information on Eye Color

• In contrast to the relative insensitivity of eye-color pigmentation and dosage compensation to genomic position, the transduced white DNA segments differed widely in their interactions with the zeste mutation, ranging from greater than normal repression by zeste to insensitivity to the presence of zeste [4].
• Transcriptional gene silencing (TGS) is Polycomb dependent and occurs when Adh is driven by the white eye color gene promoter [5].
• Deep orange and carnation are two of the classic eye color genes in Drosophila [6].
• We report here that a defect in a gene encoding a putative coat adaptor protein leads to the eye color defect of garnet mutants [7].
• We describe a simple eye-color screen that facilitates isolation and analysis of mutations in the mariner transposase in Drosophila melanogaster [8].

Biological context of Eye Color

• This is probably due to the association of these OCA2 SNPs with brown/green not blue eye color [9].
• P[hswa] carries white-apricot (wa) sequences, including a complete copia element, under the control of an hsp70 promoter, and resembles the original wa allele in eye color phenotype [10].
• The claret (ca) locus of Drosophila melanogaster comprises two separately mutable domains, one responsible for eye color and one responsible for proper disjunction of chromosomes in meiosis and early cleavage divisions [11].
• In a search for modifiers of gene expression with the white eye color gene as a target, a third chromosomal P-element insertion mutant l(3)01544 has been identified that exhibits a strong pigment increase in a white-apricot background [12].
• There exist suppressor and enhancer mutations that modify the z1 eye color, and this paper summarizes our studies of those belonging to the Suppressor 2 of zeste complex [Su(z)2-C] [13].

Anatomical context of Eye Color

• The tyrosinase gene is expressed specifically in melanocytes and the cells of the retinal pigment epithelium, which together are responsible for skin, hair, and eye color [14].
• The diluted coat and eye colors of pallid mice are, therefore, not related to low Dopa oxidase activity but to immaturity of melanosomes and high activities of lysosomal enzymes; these enzymes seem to digest many of these immature melanosomes and contribute to the diluted coat and eye colors of pallid mice [15].
• Uptakes of guanine into Malpighian tubules of wild-type Drosophila and the eye color mutants white (w), brown (bw), and pink-peach (pp) have been compared [16].
• The eye color mutants result from two lesions in the tryptophan to xanthommatin pathway: lack of tryptophan oxygenase in G. m morsitans and failure to produce or retain xanthommatin in eyes (but not in testes) of G. p. palpalis [17].

Associations of Eye Color with chemical compounds

• Xanthurenic acid 8-O-beta-D-glucoside, a novel tryptophan metabolite in eye-color mutants of Drosophila melanogaster [18].
• The incidence and time-course of latanoprost-induced iridial pigmentation as a function of eye color [19].
• Among 3 different Drosophila strains (a wild-type, a white eye-color carrying mutant strain and a DDT-resistant strain), preliminary experiments showed no differences as far as these two enzymic activities were concerned [20].
• Although there were differences in the rate of atropine delivery between the two injection devices, the heart rate responses were independently modified by eye color to a magnitude of difference as great as the differences between injectors [21].
• Nickel, cadmium, lead, arsenic, manganese and chromium salts as well as MeHgOH were screened for mutagenicity, using a sensitive somatic eye-color test system in Drosophila melanogaster [22].

Gene context of Eye Color

• Unexpectedly, dsu suppressed the ruby eye color of ruby-eye (ru) and ruby-eye-2 (ru-2) mice, to black [23].
• Five available eye-color mutations were tested for linkage to Tcv or Tccn via recombinational mapping [24].
• A mutation in Regena (Rga) was isolated in screens for modifiers of white eye color gene expression [25].
• We investigated the role of two nonpathogenic nonsynonymous single nucleotide polymorphisms (SNPs) in the MATP gene to determine if they are associated with normal human skin, hair, and eye color variation [26].
• Viable mutant alleles of purple (pr), such as prbw, exhibit mutant eye colors [27].

Analytical, diagnostic and therapeutic context of Eye Color

• The fine structure of an iridectomy specimen from a patient with latanoprost-induced eye color change [28].

References