scholarly journals Mariner, Mos and associated aberrant traits in Drosophila mauritiana

1990 ◽  
Vol 55 (3) ◽  
pp. 153-158 ◽  
Author(s):  
James W. Jacobson

SummaryA suite of aberrant genetic traits, including increased mutation rate, sex-limited mutation and distorted transmission ratios, was produced among progeny of genetic crosses between two strains of Drosophila mauritiana when a paternally contributed Mos excision factor is placed into a non- Mos genetic background. In the reciprocal cross, involving maternally contributed Mos and Mos associated cytoplasm, the same genetic abnormalities are not observed. Differential effects on mariner excision in germ-line versus somatic tissue are apparent. Because Mos is known to influence the mobility of the mariner transposable element, these traits may be associated with mariner excision and/or transposition.

Mutagenesis ◽  
2008 ◽  
Vol 23 (5) ◽  
pp. 367-370 ◽  
Author(s):  
A. K. Ahuja ◽  
R. C. Barber ◽  
R. J. Hardwick ◽  
M. M. Weil ◽  
P. C. Genik ◽  
...  

Genetics ◽  
1996 ◽  
Vol 143 (1) ◽  
pp. 365-374 ◽  
Author(s):  
Allan R Lohe ◽  
Daniel L Hartl

Abstract An important goal in molecular genetics has been to identify a transposable element that might serve as an efficient transformation vector in diverse species of insects. The transposable element mariner occurs naturally in a wide variety of insects. Although virtually all mariner elements are nonfunctional, the Mosl element isolated from Drosophila mauritiana is functional. Mosl was injected into the pole-cell region of embryos of D. virilis, which last shared a common ancestor with D. mauritiana 40 million years ago. Mosl PCR fragments were detected in several pools of DNA from progeny of injected animals, and backcross lines were established. Because Go lines were pooled, possibly only one transformation event was actually obtained, yielding a minimum frequency of 4%. Mosl segregated in a Mendelian fashion, demonstrating chromosomal integration. The copy number increased by spontaneous mobilization. In situ hybridization confirmed multiple polymorphic locations of Mosl. Integration results in a characteristic 2-bp TA duplication. One Mosl element integrated into a tandem array of 370-bp repeats. Some copies may have integrated into heterochromatin, as evidenced by their ability to support PCR amplification despite absence of a signal in Southern and in situ hybridizations.


2017 ◽  
pp. 1-12
Author(s):  
Manish R. Sharma ◽  
James T. Auman ◽  
Nirali M. Patel ◽  
Juneko E. Grilley-Olson ◽  
Xiaobei Zhao ◽  
...  

Purpose A 73-year-old woman with metastatic colon cancer experienced a complete response to chemotherapy with dose-intensified irinotecan that has been durable for 5 years. We sequenced her tumor and germ line DNA and looked for similar patterns in publicly available genomic data from patients with colorectal cancer. Patients and Methods Tumor DNA was obtained from a biopsy before therapy, and germ line DNA was obtained from blood. Tumor and germline DNA were sequenced using a commercial panel with approximately 250 genes. Whole-genome amplification and exome sequencing were performed for POLE and POLD1. A POLD1 mutation was confirmed by Sanger sequencing. The somatic mutation and clinical annotation data files from the colon (n = 461) and rectal (n = 171) adenocarcinoma data sets were downloaded from The Cancer Genome Atlas data portal and analyzed for patterns of mutations and clinical outcomes in patients with POLE- and/or POLD1-mutated tumors. Results The pattern of alterations included APC biallelic inactivation and microsatellite instability high (MSI-H) phenotype, with somatic inactivation of MLH1 and hypermutation (estimated mutation rate > 200 per megabase). The extremely high mutation rate led us to investigate additional mechanisms for hypermutation, including loss of function of POLE. POLE was unaltered, but a related gene not typically associated with somatic mutation in colon cancer, POLD1, had a somatic mutation c.2171G>A [p.Gly724Glu]. Additionally, we noted that the high mutation rate was largely composed of dinucleotide deletions. A similar pattern of hypermutation (dinucleotide deletions, POLD1 mutations, MSI-H) was found in tumors from The Cancer Genome Atlas. Conclusion POLD1 mutation with associated MSI-H and hyper-indel–hypermutated cancer genome characterizes a previously unrecognized variant of colon cancer that was found in this patient with an exceptional response to chemotherapy.


1988 ◽  
Vol 8 (2) ◽  
pp. 737-746
Author(s):  
D Eide ◽  
P Anderson

The transposable element Tc1 is responsible for most spontaneous mutations that occur in Caenorhabditis elegans variety Bergerac. We investigated the genetic and molecular properties of Tc1 transposition and excision. We show that Tc1 insertion into the unc-54 myosin heavy-chain gene was strongly site specific. The DNA sequences of independent Tc1 insertion sites were similar to each other, and we present a consensus sequence for Tc1 insertion that describes these similarities. We show that Tc1 excision was usually imprecise. Tc1 excision was imprecise in both germ line and somatic cells. Imprecise excision generated novel unc-54 alleles that had amino acid substitutions, amino acid insertions, and, in certain cases, probably altered mRNA splicing. The DNA sequences remaining after Tc1 somatic excision were the same as those remaining after germ line excision, but the frequency of somatic excision was at least 1,000-fold higher than that of germ line excision. The genetic properties of Tc1 excision, combined with the DNA sequences of the resulting unc-54 alleles, demonstrated that excision was dependent on Tc1 transposition functions in both germ line and somatic cells. Somatic excision was not regulated in the same strain-specific manner as germ-line excision was. In a genetic background where Tc1 transposition and excision in the germ line was not detectable, Tc1 excision in the soma still occurred at high frequency.


2021 ◽  
Author(s):  
Haider Z. Naqvi

Novel genetic enhancer screens were conducted targeting mutants involved in the guidance of axons of the DA and DB classes of motor neurons in C. elegans. These mutations are expected in genes that function in parallel to the unc-g/Netrin pathway. The screen was conducted in an unc-5(e53) genetic background and enhancers of the axon guidance defects caused by the absence of UNC-5 were identified. Three mutants were previously identified in the screen called rq1, rq2 and rq3 and two additional mutants called H2-4 and M1-3, were isolated in this study. In order to identify the gene affected by the rq1 mutation, wild-type copies of genes in the mapped rq1 mutation region were injected into the mutants to rescue the phenotypic defects. This is a strong indication that the gene of interest is a novel gene called H04D03.1. Promising results indicate that the H04D03.1 protein also works in germ-line apoptosis.


2018 ◽  
Vol 18 (4) ◽  
pp. 329-335
Author(s):  
Philip J Gerrish ◽  
Claudia P Ferreira

AbstractThe evolutionary trend toward increasing complexity and social function is ultimately the result of natural selection's paradoxical tendency to foster cooperation through competition. Cooperating populations ranging from complex societies to somatic tissue are constantly under attack, however, by non-cooperating mutants or transformants, called ‘cheaters’. Structure in these populations promotes the formation of cooperating clusters whose competitive superiority can alone be sufficient to thwart outgrowths of cheaters and thereby maintain cooperation. But we find that when cheaters appear too frequently – exceeding a threshold mutation or transformation rate – their scattered outgrowths infiltrate and break up cooperating clusters, resulting in a cascading loss of social cohesiveness, a switch to net positive selection for cheaters and ultimately in the loss of cooperation. Our findings imply that a critically low mutation rate had to be achieved (perhaps through the advent of proofreading and repair mechanisms) before complex cooperative functions, such as those required for multicellularity and social behaviour, could have evolved and persisted. When mutation rate in our model is also allowed to evolve, the threshold is crossed spontaneously after thousands of generations, at which point cheaters rapidly invade. Probing extrapolations of these findings suggest: (1) in somatic tissue, it is neither social retro-evolution alone nor mutation rate evolution alone but the interplay between these two that ultimately leads to oncogenic transitions; the rate of this coevolution might thereby provide an indicator of lifespan of species, terrestrial or not; (2) the likelihood that extraterrestrial life can be expected to be multicellular and social should be affected by ultraviolet and other mutagenic factors.


Genetics ◽  
1987 ◽  
Vol 117 (4) ◽  
pp. 687-696 ◽  
Author(s):  
Michel Solignac ◽  
Jean Génermont ◽  
Monique Monnerot ◽  
Jean-Claude Mounolou

ABSTRACT The mitochondrial genotype of all F1 female offspring (426 individuals) of a single Drosophila mauritiana female, heteroplasmic for two types of mtDNA (a short and a long genome), was established. All descendants were heteroplasmic. The earliest eggs laid by this female show the cytoplasmic genetic structure of ovariole stem cells at the end of development. Cohorts of females from the eggs laid day after day by this female, throughout the 31 days of its life, provide information on the evolution of the mitochondrial genotypes in the course of successive divisions of stem cells. An increase of the percentage of long DNA in offspring was observed as the female aged. Moreover, the variance of the genotypes increases as rounds of stem cell division progress. These results are supported by observations based on the adults issued from the early and late eggs, for three additional heteroplasmic females.


Genome ◽  
1992 ◽  
Vol 35 (2) ◽  
pp. 342-346 ◽  
Author(s):  
D. M. Juriloff ◽  
M. J. Harris ◽  
V. Wong ◽  
J. E. Miller

We report a new mutation at the albino locus in SELH/Bc mice. The mutation arose spontaneously in a male mouse that appeared to be a somatic and germ line mosaic for a new albino (c) allele, provisionally named cBc. The mutation is a recessive lethal, causing embryonic death soon after implantation. We have shown that there is no detectable activity of the Mod-2 allele in cis with the mutation and conclude that the mutation is probably a deletion that includes the c locus, the Mod-2 locus, the intervening 2 cM, and at least one locus essential for postimplantation embryonic survival, either proximal to the c locus or distal to the Mod-2 locus. This new mutation is similar to most previously reported spontaneous mutations at the albino locus in that it arose in a somatic and germ line mosaic mutant animal but differs from them in that it is an embryonic lethal when homozygous and is apparently a deletion. SELH/Bc mice appear to have a high mutation rate. This lethal albino mutation that appears to be a postmeiotic deletion should be useful in the search for the mechanism of mutagenesis in SELH/Bc mice. It may also be useful in mapping essential genes in the c-locus region.Key words: embryonic lethal, mosaic, deletion.


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