Aberrant splicing of the Drosophila melanogaster phenylalanine hydroxylase pre-mRNA caused by the insertion of a B104/roo transposable element in the Henna locus

Ruiz-Vázquez, Pilar; Silva, Francisco J.

doi:10.1016/s0965-1748(99)00002-8

Cited by 8 publications

(8 citation statements)

References 22 publications

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“…The conservation of the H 4 biopterin pathway in spiders is not surprising given that the pathway is shared by plants and animals [14]. However, the detection of the genes Henna (phenylalanine hydroxylase/tetrahydropterin oxidase, PAH (EC 1.14.16.1)) [37] and clot , a thioredoxin-like protein [38], suggest the possibility that the yellow pigment sepiapterin and orange/red drosopterin pigments could be present. In addition, the gene maroon-like was also detected.…”

Section: Resultsmentioning

confidence: 99%

De novo characterization of the gene-rich transcriptomes of two color-polymorphic spiders, Theridion grallator and T. californicum (Araneae: Theridiidae), with special reference to pigment genes

et al. 2013

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BackgroundA number of spider species within the family Theridiidae exhibit a dramatic abdominal (opisthosomal) color polymorphism. The polymorphism is inherited in a broadly Mendelian fashion and in some species consists of dozens of discrete morphs that are convergent across taxa and populations. Few genomic resources exist for spiders. Here, as a first necessary step towards identifying the genetic basis for this trait we present the near complete transcriptomes of two species: the Hawaiian happy-face spider Theridion grallator and Theridion californicum. We mined the gene complement for pigment-pathway genes and examined differential expression (DE) between morphs that are unpatterned (plain yellow) and patterned (yellow with superimposed patches of red, white or very dark brown).ResultsBy deep sequencing both RNA-seq and normalized cDNA libraries from pooled specimens of each species we were able to assemble a comprehensive gene set for both species that we estimate to be 98-99% complete. It is likely that these species express more than 20,000 protein-coding genes, perhaps 4.5% (ca. 870) of which might be unique to spiders. Mining for pigment-associated Drosophila melanogaster genes indicated the presence of all ommochrome pathway genes and most pteridine pathway genes and DE analyses further indicate a possible role for the pteridine pathway in theridiid color patterning.ConclusionsBased upon our estimates, T. grallator and T. californicum express a large inventory of protein-coding genes. Our comprehensive assembly illustrates the continuing value of sequencing normalized cDNA libraries in addition to RNA-seq in order to generate a reference transcriptome for non-model species. The identification of pteridine-related genes and their possible involvement in color patterning is a novel finding in spiders and one that suggests a biochemical link between guanine deposits and the pigments exhibited by these species.

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Section: Resultsmentioning

confidence: 99%

De novo characterization of the gene-rich transcriptomes of two color-polymorphic spiders, Theridion grallator and T. californicum (Araneae: Theridiidae), with special reference to pigment genes

et al. 2013

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“…The aberration of transcript processing involving alternative splicing reported to date by transposable elements is caused by insertion of the element in either an exon or intron of the transcribed host gene (Wessler et al 1987; Simon and Starlinger 1987; Ortiz and Strommer 1990; Wessler 1991; Varagona et al 1992; Chu et al 1993; Giroux et al 1994; Ruiz-Vazquez and Silva 1999). For example, insertion of Tgm-Express1, a member of CACTA family of transposable elements, in intron 2 of the glycine max flavanone 3-hydroxylase (F3H) gene triggers alternative splicing of the mutant transcript.…”

Section: Discussionmentioning

confidence: 99%

Gene Capture byHelitronTransposons Reshuffles the Transcriptome of Maize

et al. 2012

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Helitrons are a family of mobile elements that were discovered in 2001 and are now known to exist in the entire eukaryotic kingdom. Helitrons, particularly those of maize, exhibit an intriguing property of capturing gene fragments and placing them into the mobile element. Helitron-captured genes are sometimes transcribed, giving birth to chimeric transcripts that intertwine coding regions of different captured genes. Here, we perused the B73 maize genome for high-quality, putative Helitrons that exhibit plus/minus polymorphisms and contain pieces of more than one captured gene. Selected Helitrons were monitored for expression via in silico EST analysis. Intriguingly, expression validation of selected elements by RT–PCR analysis revealed multiple transcripts not seen in the EST databases. The differing transcripts were generated by alternative selection of splice sites during pre-mRNA processing. Selection of splice sites was not random since different patterns of splicing were observed in the root and shoot tissues. In one case, an exon residing in close proximity but outside of the Helitron was found conjoined with Helitron-derived exons in the mature transcript. Hence, Helitrons have the ability to synthesize new genes not only by placing unrelated exons into common transcripts, but also by transcription readthrough and capture of nearby exons. Thus, Helitrons have a phenomenal ability to “display” new coding regions for possible selection in nature. A highly conservative, minimum estimate of the number of new transcripts expressed by Helitrons is ∼11,000 or ∼25% of the total number of genes in the maize genome.

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“…Most studies support a proposal that, in the reaction from phenylalanine to tyrosine catalyzed by PAH, the tetrahydrobiopterin, as the substrate, can be converted into 6a-OH-Tetrahydrobiopterin, which can form 7,8-dihydrobiopterin spontaneously in vitro [13] . In mutants of Henna, the reduction of both drosopterin content and PAH enzyme activity was observed [10,19] , and the amount of PAH protein was dramatically increased during the pterins synthesis in adult eyes [10] . It was assumed that the purified mammailian PAH acted as a tetrahydropterin oxidase, and could produce dihydropterin under some conditions [7,13] .…”

Section: Participation Of Henna In the Synthesis Of Drosopterinmentioning

confidence: 99%

“…Based on the biochemical and molecular analysis [4][5][6][7][8] , Alcaniz and Silva [9] proposed a hypothesis that gene Henna was involved in the formation of dihydropterin in eyes. Henna is the structural gene of phenylalanine hydroxylase [10][11][12] (PAH, EC: 1.14.16.1) in D. melanogaster. PAH was proposed to catalyze the catalyze the reaction from phenylalanine to tyrosine with tetrahydro-biopterin as substrate.…”

mentioning

confidence: 99%

Reduction of drosopterin content caused by a 45-nt insertion in Henna pre-mRNA of Drosophila melanogaster

et al. 2008

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Phenylalanine hydroxylase is assumed to be a key enzyme in drosopterin metabolism, but direct in vivo evidence to support this hypothesis is still absent. In the present study, we found a new natural recessive purple eye mutant of Drosophila melanogaster, Hn ( bp ), which was a 45-nt insertion mutant in the second exon of Henna. The insertion resulted in a predicted protein with 15 additional amino acids as compared to the wild-type protein. Further analysis of protein structure showed that the predicted mutant protein probably had two more beta-sheets, which may cause instability of two alpha-helices near the catalytic centre of the enzyme in the Biopterin-Hydroxyl binding domain. Hn ( bp ) mutant showed eye color defect with decrease of mRNA level, as well as drosopterin content reduction. The drosopterin defect could be fully rescued by expression of wild type Henna in the Hn ( bp ) background by GMR-GAL4 UAS-Henna/UAS-Henna:Hn ( bp )/Hn ( bp ) transgenic line. All taken together, it can be concluded that the mutation in Henna is responsible for drosopterin reduction in mutant Hn ( bp ), which provides key in vivo evidence to support the hypothesis that Henna is involved in drosopterin synthesis.

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Aberrant splicing of the Drosophila melanogaster phenylalanine hydroxylase pre-mRNA caused by the insertion of a B104/roo transposable element in the Henna locus

Cited by 8 publications

References 22 publications

De novo characterization of the gene-rich transcriptomes of two color-polymorphic spiders, Theridion grallator and T. californicum (Araneae: Theridiidae), with special reference to pigment genes

De novo characterization of the gene-rich transcriptomes of two color-polymorphic spiders, Theridion grallator and T. californicum (Araneae: Theridiidae), with special reference to pigment genes

Gene Capture byHelitronTransposons Reshuffles the Transcriptome of Maize

Reduction of drosopterin content caused by a 45-nt insertion in Henna pre-mRNA of Drosophila melanogaster

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