Tau protein and neuronal network hyperexcitability. Fly and mouse model study. Recent report.

Holth JK, Bomben VC, Reed JG, Inoue T, Younkin L, Younkin SG, Pautler RG, Botas J, Noebels JL. Tau loss attenuates neuronal network hyperexcitability in mouse and Drosophila genetic models of epilepsy. J Neurosci. 2013 Jan 23;33(4):1651-9. PubMed PMID: 23345237.

Drosophila loss-of-function study of neurodegeneration-associated TDP-43 gene. Recent report.

Vanden Broeck L, Naval-Sánchez M, Adachi Y, Diaper D, Dourlen P, Chapuis J, Kleinberger G, Gistelinck M, Van Broeckhoven C, Lambert JC, Hirth F, Aerts S, Callaerts P, Dermaut B. TDP-43 Loss-of-Function Causes Neuronal Loss Due to Defective Steroid Receptor-Mediated Gene Program Switching in Drosophila. Cell Rep. 2013 Jan 15. doi:pii: S2211-1247(12)00459-7. 10.1016/j.celrep.2012.12.014.PubMed PMID: 23333275.

Protein granules in fly model of Fragile X. Recent report.

Gareau C, Martel D, Coudert L, Mellaoui S, Mazroui R. Characterization of Fragile X Mental Retardation Protein granules formation and dynamics in Drosophila. Biol Open. 2013 Jan 15;2(1):68-81. PubMed PMID: 23336078.

Loss versus gain of TDP-43 study. Recent report.

Diaper DC, Adachi Y, Sutcliffe B, Humphrey DM, Elliott CJ, Stepto A, Ludlow ZN, Broeck LV, Callaerts P, Dermaut B, Al-Chalabi A, Shaw CE, Robinson IM, Hirth F. Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes. Hum Mol Genet. 2013 Jan 10. PMID: 23307927.

Leaf extract test with fly model of Parkinson's disease. Recent report.

Siddique YH, Mujtaba SF, Jyoti S, Naz F. GC-MS analysis of Eucalyptus citriodora leaf extract and its role on the dietary supplementation in transgenic Drosophila model of Parkinson's disease. Food Chem Toxicol. 2013 Jan 11. doi:pii: S0278-6915(12)00901-5. 10.1016/j.fct.2012.12.028. PubMed PMID: 23318758.

Evidence that beta blockers extend life in mice and flies. Recent report.

Spindler SR, Mote PL, Li R, Dhahbi JM, Yamakawa A, Flegal JM, Jeske DR, Li R, Lublin AL. β1-Adrenergic receptor blockade extends the life span of Drosophila and long-lived mice. Age (Dordr). 2013 Jan 15. PubMed PMID: 23314750.

Parallel mouse and fly study points to EGFR target in A-beta-mediated memory loss. Recent report.

Wang L, Chiang HC, Wu W, Liang B, Xie Z, Yao X, Ma W, Du S, Zhong Y. Epidermal growth factor receptor is a preferred target for treating amyloid-β-induced memory loss. Proc Natl Acad Sci U S A. 2012 Oct 9;109(41):16743-8. doi: 10.1073/pnas.1208011109. PubMed PMID: 23019586; PubMed Central PMCID: PMC3478595.

Tick-borne pathogen studied in fly. Recent report.

Drosophila has been called "the model model organism" as it can be used not only as a model of human diseases and pathways but also as a model of arthropod pests and disease vectors.

In the introduction of this paper the authors state that "Although genetic tools for working with ticks are currently being developed (Pagel Van Zee et al., 2007), the available tools do not begin to approach those that are available in other arthropods such as Drosophila melanogaster."

Drolia R, Von Ohlen T, Chapes SK. Ehrlichia chaffeensis replication sites in adult Drosophila melanogaster. Int J Med Microbiol. 2013 Jan 7. doi:pii: 1438-4221(12)00094-X. PMID: 23306065.

E. chaffeensis is the causitive agent of the tick-borne disease human monocytic ehrlichiosis. You can read about this disease online at the NORD website.

Studying obesity in model systems. Recent review.

From the abstract: "... we searched biological databases and discovered 33 additional genes associated with human obesity ... We find that the majority have orthologues in distant species, such as D. melanogaster ..." DIOPT finds additional putative fly orthologs not listed in their Table 1.

Williams MJ, Almén MS, Fredriksson R, Schiöth HB. What model organisms and interactomics can reveal about the genetics of human obesity. Cell Mol Life Sci. 2012 Nov;69(22):3819-34. doi: 10.1007/s00018-012-1022-5. Review. PubMed PMID: 22618246.

Disease-associated mutations in Actin. New fly models. Recent report.

These authors report introducing six different mutant forms of actin associated with myopathies in humans into the fly indirect flight muscle, as well as characterization of the resulting phenotypes.

Sevdali M, Kumar V, Peckham M, Sparrow J. Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle. Neuromuscul Disord. 2013 Jan 4. doi:pii: S0960-8966(12)00698-0. 10.1016/j.nmd.2012.11.013. PMID: 23294764.

Why not work on ... ?

The human gene TMCO1 ("transmembrane and coiled-coil domains 1") is associated with "Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome" (NCBI OMIM Entry 614132). The summary at NCBI Entrez Gene suggests the gene is also associated with "open angle glaucoma blindness" (it  looks like this is based on GWAS data).

The fly gene CG10470 scores a 10 out of 10 for ortholog match to TMCO1 (i.e. 10 out of 10 tools/algorithms represented at DIOPT predict an ortholog relationship between TMCO1 and CG10470). Screenshots of the DIOPT-DIST results and alignment are shown below.

Currently, it looks like little is known about the normal function of the human or fly genes. Will you be the person who sheds light on function of this disease-relevant gene?

Flies and fish contribute to study on SMA. Recent report.

Lotti F, Imlach WL, Saieva L, Beck ES, Hao le T, Li DK, Jiao W, Mentis GZ, Beattie CE, McCabe BD, Pellizzoni L. An SMN-dependent U12 splicing event essential for motor circuit function. Cell. 2012 Oct 12;151(2):440-54. doi: 10.1016/j.cell.2012.09.012. PubMed PMID: 23063131; PubMed Central PMCID: PMC3474596.

Fly eye assay included in leukemia study. Recent report.

Expression of the Notch signaling ligand Delta in the fly eye creates a sensitized background exploited as part of follow-up on gene identified in this exome sequencing study aimed at understanding T-cell acute lymphoblastic leukemia.

De Keersmaecker K, Atak ZK, Li N, Vicente C, Patchett S, Girardi T, Gianfelici V, Geerdens E, Clappier E, Porcu M, Lahortiga I, Lucà R, Yan J, Hulselmans G, Vranckx H, Vandepoel R, Sweron B, Jacobs K, Mentens N, Wlodarska I, Cauwelier B, Cloos J, Soulier J, Uyttebroeck A, Bagni C, Hassan BA, Vandenberghe P, Johnson AW, Aerts S, Cools J. Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia. Nat Genet. 2012 Dec 23. doi: 10.1038/ng.2508. PMID: 23263491.

Lipids & the fly. Recent review.

Liu Z, Huang X. Lipid metabolism in Drosophila: development and disease. Acta Biochim Biophys Sin (Shanghai). 2013 Jan;45(1):44-50. doi: 10.1093/abbs/gms105. PMID: 23257293.

From the abstract: "Some recent progresses of lipid metabolic regulation during Drosophila development and in Drosophila models of human diseases will be discussed in this review."

Ortholog search tools updated

A 10th tool, OrthoDB, has now been incorporated into results from the DIOPT and DIOPT-DIST tools for ortholog identification, including disease gene ortholog identification. Check it out.