Modifiers of Prat, a de novo purine synthesis gene, in Drosophila melanogaster

Genome ◽  
2009 ◽  
Vol 52 (11) ◽  
pp. 957-967 ◽  
Author(s):  
Joanne M. Hackett ◽  
Denise V. Clark
Keyword(s):  
Drosophila Melanogaster ◽  
De Novo ◽  
Essential Gene ◽  
Genetic Regulation ◽  
Complementation Group ◽  
Genetic Modifiers ◽  
Male Recombination ◽  
Gene Expression Microarrays ◽  
Recombination Mapping ◽  
Expression Microarrays

Drosophila melanogaster was used to identify genes with a potential role in genetic regulation of purine biosynthesis. In this study we examine two dominant genetic modifiers of the essential gene Prat, which encodes amidophosphoribosyltransferase (EC 2.4.2.14). We found that Mod(Prat:bw)3-1 enhances Prat expression only in female heads, whereas Mod(Prat:bw)3-5 suppresses Prat in all stages and tissues examined for both sexes. For Mod-3-5, gene expression microarrays were used to identify other genes that are affected by the modifier. Three mapping approaches were used to localize these modifiers. Deficiency and meiotic mapping showed that the complex lethal complementation group previously associated with Mod-3-1 and Mod-3-5 is actually due to shared second-site lethal mutations. Using male recombination mapping, Mod-3-1 was localized to a 21 kilobase region containing nine genes, and Mod-3-5 was localized to a 53 kilobase region containing eight genes.

scholarly journals Identification of Trans-dominant Modifiers of Prat Expression in Drosophila melanogaster

Genetics ◽  
2003 ◽  
Vol 164 (4) ◽  
pp. 1419-1433
Author(s):  
Nicolas Malmanche ◽  
Denise V Clark
Keyword(s):  
Drosophila Melanogaster ◽  
De Novo ◽  
Essential Gene ◽  
Single Copy ◽  
Induced Mutations ◽  
Coding Region ◽  
Rt Pcr ◽  
Transcription Start ◽  
Eye Color ◽  
Transcription Start Sites

Abstract The first committed step in the purine de novo synthesis pathway is performed by amidophosphoribosyl-transferase (EC 2.4.2.14) or Prat. Drosophila melanogaster Prat is an essential gene with a promoter that lacks a TATA-box and initiator element and has multiple transcription start sites with a predominant start site. To study the regulation of Prat expression in the adult eye, we used the Prat:bw reporter gene, in which the Prat coding region was replaced with the brown (bw) coding region. The pale-orange eye color of a single copy of Prat:bw prompted us to use a multicopy array of Prat:bw that was derived using P transposase mutagenesis and produces a darker-orange eye color in a bwD; st genetic background. We used a 13-copy array of Prat:bw as a tool to recover dominant EMS-induced mutations that affect the expression of the transgene. After screening 21,000 F1s for deviation from the orange eye color, we isolated 23 dominant modifiers: 21 suppressors (1 Y-linked, 5 X-linked, 4 2-linked, and 11 3-linked) and 2 enhancers (1 2-linked and 1 3-linked). Quantification of their effect on endogenous Prat gene expression, using RT-PCR in young adult fly heads, identifies a subset of modifiers that are candidates for genes involved in regulating Prat expression.

scholarly journals The tamas Gene, Identified as a Mutation That Disrupts Larval Behavior in Drosophila melanogaster, Codes for the Mitochondrial DNA Polymerase Catalytic Subunit (DNApol-γ125)

Genetics ◽  
1999 ◽  
Vol 153 (4) ◽  
pp. 1809-1824 ◽  
Author(s):  
Balaji Iyengar ◽  
John Roote ◽  
Ana Regina Campos
Keyword(s):  
Mitochondrial Dna ◽  
Drosophila Melanogaster ◽  
Mutant Strain ◽  
Dna Polymerase ◽  
Complementation Group ◽  
Behavioral Changes ◽  
Catalytic Subunit ◽  
Primary Deficit ◽  
Mitochondrial Dna Polymerase ◽  
Food Substrate

AbstractFrom a screen of pupal lethal lines of Drosophila melanogaster we identified a mutant strain that displayed a reproducible reduction in the larval response to light. Moreover, this mutant strain showed defects in the development of the adult visual system and failure to undergo behavioral changes characteristic of the wandering stage. The foraging third instar larvae remained in the food substrate for a prolonged period and died at or just before pupariation. Using a new assay for individual larval photobehavior we determined that the lack of response to light in these mutants was due to a primary deficit in locomotion. The mutation responsible for these phenotypes was mapped to the lethal complementation group l(2)34Dc, which we renamed tamas (translated from Sanskrit as “dark inertia”). Sequencing of mutant alleles demonstrated that tamas codes for the mitochondrial DNA polymerase catalytic subunit (DNApol-γ125).

scholarly journals Essential gene prediction in Drosophila melanogaster using machine learning approaches based on sequence and functional features

2020 ◽  
Vol 18 ◽  
pp. 612-621 ◽  
Author(s):  
Olufemi Aromolaran ◽  
Thomas Beder ◽  
Marcus Oswald ◽  
Jelili Oyelade ◽  
Ezekiel Adebiyi ◽  
...  
Keyword(s):  
Machine Learning ◽  
Drosophila Melanogaster ◽  
Essential Gene ◽  
Gene Prediction ◽  
Learning Approaches ◽  
Functional Features

scholarly journals Integrated analysis using methylation and gene expression microarrays reveals PDE4C as a prognostic biomarker in human glioma

2014 ◽  
Vol 32 (1) ◽  
pp. 250-260 ◽  
Author(s):  
ZHAOSHI BAO ◽  
YING FENG ◽  
HONGJUN WANG ◽  
CHUANBAO ZHANG ◽  
LIHUA SUN ◽  
...  
Keyword(s):  
Gene Expression ◽  
Prognostic Biomarker ◽  
Integrated Analysis ◽  
Human Glioma ◽  
Gene Expression Microarrays ◽  
Expression Microarrays

scholarly journals Drosophila Ana2 is a conserved centriole duplication factor

2010 ◽  
Vol 188 (3) ◽  
pp. 313-323 ◽  
Author(s):  
Naomi R. Stevens ◽  
Jeroen Dobbelaere ◽  
Kathrin Brunk ◽  
Anna Franz ◽  
Jordan W. Raff
Keyword(s):  
Drosophila Melanogaster ◽  
Caenorhabditis Elegans ◽  
De Novo ◽  
Protein Family ◽  
Centriole Duplication

In Caenorhabditis elegans, five proteins are required for centriole duplication: SPD-2, ZYG-1, SAS-5, SAS-6, and SAS-4. Functional orthologues of all but SAS-5 have been found in other species. In Drosophila melanogaster and humans, Sak/Plk4, DSas-6/hSas-6, and DSas-4/CPAP—orthologues of ZYG-1, SAS-6, and SAS-4, respectively—are required for centriole duplication. Strikingly, all three fly proteins can induce the de novo formation of centriole-like structures when overexpressed in unfertilized eggs. Here, we find that of eight candidate duplication factors identified in cultured fly cells, only two, Ana2 and Asterless (Asl), share this ability. Asl is now known to be essential for centriole duplication in flies, but no equivalent protein has been found in worms. We show that Ana2 is the likely functional orthologue of SAS-5 and that it is also related to the vertebrate STIL/SIL protein family that has been linked to microcephaly in humans. We propose that members of the SAS-5/Ana2/STIL family of proteins are key conserved components of the centriole duplication machinery.

Creation of EcR isoform-specific mutations in Drosophila melanogaster via local P element transposition, imprecise P element excision, and male recombination

2004 ◽  
Vol 271 (3) ◽  
pp. 282-290 ◽  
Author(s):  
G. E. Carney ◽  
A. Robertson ◽  
M. B. Davis ◽  
M. Bender
Keyword(s):  
Drosophila Melanogaster ◽  
P Element ◽  
Male Recombination

scholarly journals CYTOGENETIC ANALYSIS OF THE CHROMOSOMAL REGION IMMEDIATELY ADJACENT TO THE ROSY LOCUS IN DROSOPHILA MELANOGASTER

Genetics ◽  
1980 ◽  
Vol 95 (1) ◽  
pp. 95-110 ◽  
Author(s):  
Arthur J Hilliker ◽  
Stephen H Clark ◽  
Arthur Chovnick ◽  
William M Gelbart
Keyword(s):  
Drosophila Melanogaster ◽  
Polytene Chromosome ◽  
Structural Information ◽  
Genetic Regulation ◽  
Chromosome Band ◽  
Genetic Dissection ◽  
Genetic Unit ◽  
Complementation Groups ◽  
The Relationship ◽  
Chromosome Bands

ABSTRACT This report describes the genetic analysis of a region of the third chromosome of Drosophila melanogaster extending from 87D2-4 to 87E12-F1, an interval of 23 or 24 polytene chromosome bands. This region includes the rosy (ry, 3-52.0) locus, carrying the structural information for xanthine dehydrogenase (XDH). We have, in recent years, focused attention on the genetic regulation of the rosy locus and, therefore, wished to ascertain in detail the immediate genetic environmcnt of this locus. Specifically, we question if rosy is a solitary genetic unit or part of a larger complex genetic unit encompassing adjacent genes. Our data also provide opportunity to examine further the relationship between euchromatic gene distrihution and polytene chromosome structure.—The results of our genetic dissection of the rosy microregion substantiate the conclusion drawn earlier (SCHALET, KERNAGHAN and CHOVNICK 1964) that the rosy locus is the only gene in this region concerned with XDH activity and that all adjacent genetic units are functionally, as well as spatially, distinct Erom the rosy gene. Within the rosy micro-region, we observed a close correspondence between the number of complementation groups (21) and the number of polytene chromosome bands (23 or 24). Consideration of this latter observation in conjunction with those of similar studies of other chhromosomal regions supports the hypothesis that each polytene chromosome band corresponds to a single genetic unit.

scholarly journals Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

2020 ◽  
Vol 6 (6) ◽  
pp. e528
Author(s):  
Federica Malerba ◽  
Giulio Alberini ◽  
Ganna Balagura ◽  
Francesca Marchese ◽  
Elisabetta Amadori ◽  
...  
Keyword(s):  
De Novo ◽  
Cognitive Outcome ◽  
Single Mutation ◽  
Genetic Modifiers ◽  
Seizure Onset ◽  
Pathogenic Variants ◽  
Intellectual Outcome ◽  
The Mean ◽  
Patients With Epilepsy ◽  
The Impact

ObjectiveEarly identification of de novo KCNQ2 variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo KCNQ2 pathogenic variants to dissect genotype-phenotype correlations.MethodsPatients with de novo KCNQ2 pathogenic variants were identified from Italy, Denmark, and Belgium. Atomic resolution Kv7.2 structures were also generated using homology modeling to map the variants.ResultsWe included 34 patients with a mean age of 4.7 years. Median seizure onset was 2 days, mainly with focal seizures with autonomic signs. Twenty-two patients (65%) were seizure free at the mean age of 1.2 years. More than half of the patients (17/32) displayed severe/profound intellectual disability; however, 4 (13%) of them had a normal cognitive outcome.A total of 28 de novo pathogenic variants were identified, most missense (25/28), and clustered in conserved regions of the protein; 6 variants recurred, and 7 were novel. We did not identify a relationship between variant position and seizure offset or cognitive outcome in patients harboring missense variants. Besides, recurrent variants were associated with overlapping epilepsy features but also variable evolution regarding the intellectual outcome.ConclusionsWe highlight the complexity of variant interpretation to assess the impact of a class of de novo KCNQ2 mutations. Genetic modifiers could be implicated, but the study paradigms to successfully address the impact of each single mutation need to be developed.

scholarly journals A MODEL OF THE NEGATIVE CORRELATION BETWEEN MALE RECOMBINATION AND TRANSMISSION FREQUENCY IN DROSOPHILA MELANOGASTER

Genetics ◽  
1979 ◽  
Vol 93 (2) ◽  
pp. 449-459
Author(s):  
Yuichiro Hiraizumi
Keyword(s):  
Drosophila Melanogaster ◽  
Excellent Agreement ◽  
Negative Correlation ◽  
Regression Equations ◽  
Stages Of Development ◽  
Male Recombination ◽  
Transmission Frequency ◽  
Normal Males ◽  
Sperm Dysfunction

ABSTRACT A model is proposed to account for the phenomenon of negative correlation between male recombination (θ) and transmission frequency (k) in Drosophila melanogaster. The model assumes that, in some stage or stages of development, the male recombination elements cause a particular event that does not occur in normal males and that this event, in turn, induces with certain probabilities male recombination and/or sperm dysfunction. The regression equations of θ on k predicted by the model were compared with those actually observed. There was generally excellent agreement between them.

Sign in / Sign up

Export Citation Format

Share Document