In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA, which then may undergo error-prone repair, cause an error during other forms of repair, or cause an error during replication. Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements.
Drosophila melanogaster is a species of fly in the family Drosophilidae. The species is often referred to as the fruit fly or lesser fruit fly, or less commonly the "vinegar fly" or "pomace fly", or "banana fly". Starting with Charles W. Woodworth's 1901 proposal of the use of this species as a model organism, D. melanogaster continues to be widely used for biological research in genetics, physiology, microbial pathogenesis, and life history evolution. As of 2017, six Nobel Prizes have been awarded to drosophilists for their work using the insect.
Eric Francis Wieschaus is an American evolutionary developmental biologist and 1995 Nobel Prize-winner.
Trudi Schüpbach is a Swiss-American molecular biologist. She is an Emeritus Professor of Molecular Biology at Princeton University, where her laboratory studies molecular and genetic mechanisms in fruit fly oogenesis.
A gap gene is a type of gene involved in the development of the segmented embryos of some arthropods. Gap genes are defined by the effect of a mutation in that gene, which causes the loss of contiguous body segments, resembling a gap in the normal body plan. Each gap gene, therefore, is necessary for the development of a section of the organism.
Balancer chromosomes are a type of genetically engineered chromosome used in laboratory biology for the maintenance of recessive lethal mutations within living organisms without interference from natural selection. Since such mutations are viable only in heterozygotes, they cannot be stably maintained through successive generations and therefore continually lead to production of wild-type organisms, which can be prevented by replacing the homologous wild-type chromosome with a balancer. In this capacity, balancers are crucial for genetics research on model organisms such as Drosophila melanogaster, the common fruit fly, for which stocks cannot be archived. They can also be used in forward genetics screens to specifically identify recessive lethal mutations. For that reason, balancers are also used in other model organisms, most notably the nematode worm Caenorhabditis elegans and the mouse.
Piwi-interacting RNA (piRNA) is the largest class of small non-coding RNA molecules expressed in animal cells. piRNAs form RNA-protein complexes through interactions with piwi-subfamily Argonaute proteins. These piRNA complexes are mostly involved in the epigenetic and post-transcriptional silencing of transposable elements and other spurious or repeat-derived transcripts, but can also be involved in the regulation of other genetic elements in germ line cells.
Most animal testing involves invertebrates, especially Drosophila melanogaster, a fruit fly, and Caenorhabditis elegans, a nematode. These animals offer scientists many advantages over vertebrates, including their short life cycle, simple anatomy and the ease with which large numbers of individuals may be studied. Invertebrates are often cost-effective, as thousands of flies or nematodes can be housed in a single room.
Orthodenticle (otd) is a homeobox gene found in Drosophila that regulates the development of anterior patterning, with particular involvement in the central nervous system function and eye development. It is located on the X chromosome. The gene is an ortholog of the human OTX1/OTX2 gene.
Genetically modified animals are animals that have been genetically modified for a variety of purposes including producing drugs, enhancing yields, increasing resistance to disease, etc. The vast majority of genetically modified animals are at the research stage while the number close to entering the market remains small.
Vasa is an RNA binding protein with an ATP-dependent RNA helicase that is a member of the DEAD box family of proteins. The vasa gene is essential for germ cell development and was first identified in Drosophila melanogaster, but has since been found to be conserved in a variety of vertebrates and invertebrates including humans. The Vasa protein is found primarily in germ cells in embryos and adults, where it is involved in germ cell determination and function, as well as in multipotent stem cells, where its exact function is unknown.
The developmentally active and heat shock inducible hsromega or hsrω gene in Drosophila produces multiple long non-coding RNA transcripts. This gene is transcriptionally active in almost all cell types of Drosophila and is the most actively induced following heat shock. A unique feature of the hsromega gene, which led to discovery of the 93D puff in 1970, is its singular inducibility with benzamide and a variety of other amides.
Somatic pairing of homologous chromosomes is similar to pre- and early meiotic pairing, and has been observed in Diptera (Drosophila), and budding yeast, for example. Mammals show little pairing apart from in germline cells, taking place at specific loci, and under the control of developmental signalling.
Oogonial stem cells (OSCs), also known as egg precursor cells or female germline cells, are diploid germline cells with stem cell characteristics: the ability to renew and differentiate into other cell types, different from their tissue of origin. Present in invertebrates and some lower vertebrate species, they have been extensively studied in Caenorhabditis elegans, Drosophila melanogaster. OSCs allow the production of new female reproductive cells (oocytes) by the process of oogenesis during an organism's reproductive life.
Smaug is a RNA-binding protein in Drosophila that helps in maternal to zygotic transition (MZT). The protein is named after the fictional character Smaug, the dragon in J.R.R. Tolkien's 1937 novel The Hobbit. The MZT ends with the midblastula transition (MBT), which is defined as the first developmental event in Drosophila that depends on zygotic mRNA. In Drosophila, the initial developmental events are controlled by maternal mRNAs like Hsp83, nanos, string, Pgc, and cyclin B mRNA. Degradation of these mRNAs, which is expected to terminate maternal control and enable zygotic control of embryogenesis, happens at interphase of nuclear division cycle 14. During this transition smaug protein targets the maternal mRNA for destruction using miRs. Thus activating the zygotic genes. Smaug is expected to play a role in expression of three miRNAs – miR-3, miR-6, miR-309 and miR-286 during MZT in Drosophila. Among them smaug dependent expression of miR-309 is needed for destabilization of 410 maternal mRNAs. In smaug mutants almost 85% of maternal mRNA is found to be stable. Smaug also binds to 3′ untranslated region (UTR) elements known as SMG response elements (SREs) on nanos mRNA and represses its expression by recruiting a protein called Cup(an eIF4E-binding protein that blocks the binding of eIF4G to eIF4E). There after it recruits deadenylation complex CCR4-Not on to the nanos mRNA which leads to deadenylation and subsequent decay of the mRNA. It is also found to be involved in degradation and repression of maternal Hsp83 mRNA by recruiting CCR4/POP2/NOT deadenylase to the mRNA. The human Smaug protein homologs are SAMD4A and SAMD4B.
Richard William Carthew is a Developmental Biologist and Quantitative Biologist at Northwestern University. He is a Professor of Molecular Biosciences and Director of the NSF-Simons Center for Quantitative Biology.
Thomas Charles Kaufman is an American geneticist. He is known for his work on the zeste-white region of the Drosophila X chromosome. He is currently a Distinguished Professor of biology at Indiana University, where he conducts his current research on Homeotic Genes in evolution and development.
Pierre Gönczy is a Swiss and Italian cell and developmental biologist. His research focuses on centriole biology and asymmetric cell division. He is currently professor at École Polytechnique Fédérale de Lausanne (EPFL), where he directs the Laboratory of Cell and Developmental Biology.
Reinhard F. Stocker is a Swiss biologist. He pioneered the analysis of the sense of smell and taste in higher animals, using the fly Drosophila melanogaster as a study case. He provided a detailed account of the anatomy and development of the olfactory system, in particular across metamorphosis, for which he received the Théodore-Ott-Prize of the Swiss Academy of Medical Sciences in 2007, and pioneered the use of larval Drosophila for the brain and behavioural sciences.
Anthony Mahowald is a molecular genetics and cellular biologist who served as the department chair of the molecular genetics and cellular biology department at the University of Chicago. His lab focused on the Drosophila melanogaster, which is often referred to as fruit fly, specifically focusing on controlling the genetic aspect of major developmental events. His major research breakthroughs included the study of the stem cell niche, endocycles, and various types of actin.
