A Database of Drosophila Genes & Genomes

FB2013_03, released May 7th, 2013
 

Allele Dmel\ltd1

General Information
SymbolDmel\ltd1SpeciesD. melanogaster
NameFlyBase IDFBal0011737
Feature typealleleAssociated geneDmel\ltd
Map ( GBrowse ) GBrowse View Helpdetailed view FBal0011737
Allele class
Mutagenspontaneous
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Description
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FB2013_03
FB2013_02
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hide Nature of the Allele
Allele class
Mutagen
Mutations Mapped to the Genome
Type
Location
Additional Notes
References
point mutation
comment=Mutation is in the common exon of the predicted ltd transcripts and eliminates the C-terminal 203 amino acid region. Position of mutation on reference sequence inferred by FlyBase curator based on author statement.
evidence=experimental
na_change=C5066689G
pr_change=Y183|ltd-PA,Y484|ltd-PB,Y186|ltd-PE,Y20|lt d-PD,Y186@|ltd-PC
reported_na_change=C?G
reported_pr_change=??@
Associated Sequence Data
DDBJ /
EMBL /
GenBank
DNA sequence
Protein sequence
Name
 
UniProtKB/Swiss-Prot
UniProtKB/TrEMBL
Progenitor genotype
Nature of the lesion
Statement
Reference
Amino acid replacement: ??@. Nucleotide substitution: C?G. Mutation is in the common exon of the predicted CG8024 transcripts and eliminates the C-terminal 203 amino acid region.
Cytology
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eye photoreceptor cell & pigment granule
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Statement
Reference
Mutant flies show a significant decrease in ommochrome pigment levels and some reduction in drosopterin pigment levels compared to wild type.
Mutant flies have reduced red pigment in the eye compared to controls.
The primary pigment cells in ltd1 flies lack the large electron-lucent xanthommatin granules seen in wild type, while the granules in the secondary and tertiary pigment cells are fewer in number than normal and abnormal in shape and density of their content. The photoreceptor cells lack the small xanthommatin pigment granules seen in wild type.
Uptake of kynurenine, which is produced in the fat body, by the Malpighian tubes, where it is converted to 3-hydrokynurenine, is defective; similar defect seen in eye discs. Sullivan and Sullivan postulate that ltd is a transport mutant that prevents the substrate kynurenine from reaching the sites of its conversion to ommochrome.
Exhibits reduced levels of phenoazinone synthetase, an enzyme involved in the condensation of 3OH kynurenine molecules to xanthommatin, as do other mutants deficient in ommochrome synthesis.
Administration of 3 hydroxykynurenine without effect on eye colour.
Studied phenotypic interaction with other eye-color mutants.
Deficient in ommochrome synthesis. Lack detectable levels of 3OH kynurenine despite normal levels of kynurenine hydroxylase activity.
Eye colour: clear, light, translucent yellowish pink; resembles lt1 but is lighter, darkens with age. Ocellus colour: colourless. Malpighian tubule colour: colourless.
 
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Linkouts
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Statement
Reference
ltd1 has eye color defective phenotype, enhanceable by blos1ex2
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Statement
Reference
ltd1 is an enhancer of eye color defective phenotype of blos1ex2
ltd1 is an enhancer of eye color defective phenotype of pp
ltd1 is an enhancer of eye color defective phenotype of psnb
ltd1 is an enhancer of visible phenotype of pp
ltd1 is an enhancer of visible phenotype of psnb
hideOther
Statement
Reference
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hideNOT suppressed by
Statement
Reference
ltd1 has phenotype, non-suppressible by su(Hw)2
hideEnhancer of
Statement
Reference
ltd1 is an enhancer of pigment cell phenotype of psnb
hideOther
Statement
Reference
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Statement
Reference
The reduction in ommochrome pigment levels that is seen in ltd[1] flies is not affected by HPS4[W515X].
The reduction in red pigment in the eye seen in ltd[1] blos1[ex2] double mutants is more severe than that seen in either single mutant.
Expression of aux[Scer\UAS.cHa] under the control of Scer\GAL4[GMR.PF] enhances the loss of red eye pigment that is seen in ltd[1] flies.
Eye colour: ltd1; psnb eyes are lighter and have significantly reduced levels of red pigment compared to either single mutant.
The level of pteridine eye pigments in ltd1 ; ca1 double mutant flies resembles that seen in ca1 single mutants. The level of pteridine eye pigments in g1 ; ltd1 or rb1 ; ltd1 double mutant flies are significantly lower than that of the corresponding single mutants.
Eye colour: nearly white, with rb1. Eye colour: nearly white, with g1. Pale eye color due to the absence of pteridines and brown pigment.
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Statement
Reference
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Rescued by
Comments
hide Stocks ( 5 )
Bloomington
338
Kyoto
105856
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Discoverer
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Other Crossreferences
Linkouts
hide Synonyms & Secondary IDs ( 3 )
Reported As
Symbol Synonym
Name Synonym
Secondary FlyBase IDs
hide References ( 15 )
Research paper
Harris et al., 2011, J. Cell Biol. 194(1): 77--87
Cargo sorting to lysosome-related organelles regulates siRNA-mediated gene silencing. [FBrf0214287]
Cheli et al., 2010, Hum. Mol. Genet. 19(5): 861--878
Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency. [FBrf0209903]
Falcon-Perez et al., 2007, Traffic 8(2): 154--168
The Drosophila Pigmentation Gene pink (p) Encodes a Homologue of Human Hermansky-Pudlak Syndrome 5 (HPS5). [FBrf0192474]
Simonsen et al., 2007, Genetics 176(2): 1283--1297
Genetic modifiers of the Drosophila blue cheese gene link defects in lysosomal transport with decreased life span and altered ubiquitinated-protein profiles. [FBrf0201586]
Ma et al., 2004, Proc. Natl. Acad. Sci. U.S.A. 101(32): 11652--11657
Lightoid and Claret: a rab GTPase and its putative guanine nucleotide exchange factor in biogenesis of Drosophila eye pigment granules. [FBrf0180621]
Orr and Irving, 1997, Evolution 51(6): 1877--1885
The genetics of adaptation: The genetic basis of resistance to wasp parasitism in Drosophila melanogaster. [FBrf0100696]
Tearle, 1991, Genet. Res. (Camb.) 57: 257--266
Tissue specific effects of ommochrome pathway mutations in Drosophila melanogaster. [FBrf0054090]
Silva and Mensua, 1985, D. I. S. 61: 156
Synergistic effects between eye-color genes of Drosophila melanogaster. [FBrf0042242]
Sullivan and Sullivan, 1975, Biochem. Genet. 13: 603--613
Transport defects as the physiological basis for eye color mutants of Drosophila melanogaster. [FBrf0027147]
Phillips et al., 1973, Genetics 73(1): 45--56
Terminal synthesis of xanthommatin in Drosophila melanogaster. [FBrf0025065]
Sullivan et al., 1973, Genetics 75: 651--661
Developmental and genetic studies on kynurenine hydroxylase from Drosophila melanogaster. [FBrf0025087]
Reedy and Cavalier, 1971, J. Hered. 62: 131--134
Epistasis in eye colors of Drosophila melanogaster. [FBrf0022892]
Phillips et al., 1970, Biochem. Genet. 4: 481--487
Terminal synthesis of xanthommatin in Drosophila melanogaster. [FBrf0021146]
Supplementary material
Cheli et al., 2010, Hum. Mol. Genet. 19(5):
Supplementary Data. [FBrf0210495]
Book
Lindsley and Grell, 1968, Publs Carnegie Instn 627: 469pp
Genetic variations of Drosophila melanogaster. [FBrf0020044]