Tuesday, July 31, 2012

Rab GTPase Gal4 Kit. Breaking Report.

The Gal4 expression 'kit' reported in this paper could be useful not only for studying Rab GTPases but also for Gal4-UAS mediated stage- or tissue-specific expression of other genes or reagents.

Jin EJ, Chan CC, Agi E, Cherry S, Hanacik E, Buszczak M, Hiesinger PR. Similarities of Drosophila rab GTPases Based on Expression Profiling: Completion and Analysis of the rab-Gal4 Kit. PLoS One. 2012;7(7):e40912. Epub 2012 Jul 23. PubMed PMID: 22844416.

According to the introduction of the paper, Rab GTPases or related factors have been implicated in at least the following: Griscelli Syndrome and Hermansky-Pudlak Syndrome, both of which are associated with albinism, as well as Charcot-Marie-Tooth Type 2B Disease, Warburg Micro Syndrome (also known by the abbreviation WARBM and as Warburg Sjo Fledelius Syndrome or simply Micro Syndrome), and X-linked mental retardation.

Related resource: UAS-Rab fly stocks at the BDSC. As described in Zhang J, Schulze KL, Hiesinger PR, Suyama K, Wang S, Fish M, Acar M, Hoskins RA, Bellen HJ, Scott MP. Thirty-one flavors of Drosophila rab proteins. Genetics. 2007 Jun;176(2):1307-22. Epub 2007 Apr 3. PubMed PMID: 17409086; PubMed Central PMCID: PMC1894592.

Friday, July 27, 2012

Galactosemia stocks at the BDSC

The Bloomington Drosophila Stock Center has added a Galactosemia page to their Drosophila and Human Disease website.  The list of available stocks includes these recently acquired lines from Judy Fridovich-Keil [generated in Sanders et al., 2010, UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster. Dis Model Mech. 3:628 PubMed ID 20519568].

37738    w[*]; wg[Sp-1]/CyO; Gale[Deltay]/TM6B, Tb[1]
strong loss of function allele

37739    Gale[h]/TM6B, Tb[1]
hypomorphic allele (weaker than Gale[Deltay]

37740    w[*]; P{UAS-hGALE.S}32A/CyO; TM2/TM6B, Tb[1]
expresses human UDP-galactose 4' epimerase under UAS control

Go to the BDSC's Galactosemia Page.

Wednesday, July 18, 2012

miRNAs & Cancer. Breaking Report.

Herranz H, Hong X, Hung NT, Voorhoeve PM, Cohen SM. Oncogenic cooperation between SOCS family proteins and EGFR identified using a Drosophila epithelial transformation model. Genes Dev. 2012 Jul 15;26(14):1602-11. PubMed PMID: 22802531

Tuesday, July 17, 2012

Huntington's Disease proteomics study. Breaking Report.

A Drosophila Huntington's disease model was used for follow-up studies as described in this report on a proteomics study related to Huntington's disease.

Shirasaki DI, Greiner ER, Al-Ramahi I, Gray M, Boontheung P, Geschwind DH, Botas J, Coppola G, Horvath S, Loo JA, Yang XW. Network organization of the huntingtin proteomic interactome in Mammalian brain. Neuron. 2012 Jul 12;75(1):41-57. PubMed PMID: 22794259.

Related resources:  Check out BDSC's page on Huntington disease-related fly stocks.

Monday, July 16, 2012

Microphthalmia. Fly gene knowledge informs disease understanding. Breaking report.

Aldahmesh MA, Mohammed JY, Al-Hazzaa S, Alkuraya FS. Homozygous null mutation in ODZ3 causes microphthalmia in humans. Genet Med. 2012 Jul 5. doi:10.1038/gim.2012.71. PubMed PMID: 22766609.

Relevant genes include:  Ten-m (a.k.a. odz) FBgn0004449

Effect of L-ascorbic acid on Parkinson's model flies. Breaking report.

Khan S, Jyoti S, Naz F, Shakya B, Xx R, Afzal M, Siddique YH. Effect of L-ascorbic acid on the climbing ability and protein levels in the brain of Drosophila model of Parkinson's disease. Int J Neurosci. 2012 Jul 10. [Epub ahead of print] PubMed PMID: 22776006.

Related Resource:  Fly stocks at the BDSC related to Parkinsons Disease.

Saturday, July 14, 2012

Amyotrophic lateral sclerosis (ALS). Relevant fly stocks at BDSC.

The Bloomington Drosophila Stock Center is cataloging mutant alleles and in vivo RNAi fly stocks useful for studying human disease-related genes. Here's their page on resources for amyotrophic lateral sclerosis or ALS (also known as Lou Gherig's disease).

Juvenile Myoclonic Epilepsy. Freely available book chapter.

Grisar T, Lakaye B, de Nijs L, LoTurco J, Daga A, Delgado-Escueta AV. Myoclonin1/EFHC1 in cell division, neuroblast migration, synapse/dendrite formation in juvenile myoclonic epilepsy. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012. PubMed PMID: 22787620.

Genetic analysis in the fly contributed to an understanding of the mechanisms of action of the disease-associated gene. The gene product is noted as unique among a set of genes related to epilepsy, as it appears to be a microtubule-associated protein (MAP) rather than an ion channel.

Direct link to the freely available book chapter here.

Relevant fly genes include: CG8959 a.k.a. Efhc1.1 (FBgn0030691)
Relevant medical terms from the paper include:  "microtubulopathies," juvenile myoclonic epilepsy, and idiopathic/genetic generalized epilepsy.

Friday, July 13, 2012

Mucopolysaccharidosis. Fly orthologs list.

The following list of genes can be considered high-confidence orthologs (DIOPT scores of 8 or 9) of human genes related to various types of mucopolysaccharidoses, which are categorized as lysosomal storage diseases.

Start learning about mycopolysaccharidoses on Wikipedia.
Get inspired by the U.S. MPS Society.

Disease name, Human Gene ID, Human Gene Symbol, Inheritance pattern of the human genetic disease, FlyBase ID, Fly Gene Symbol, OMIM ID

With the exception of CG6201, there is evidence for expression of each of these in cultured S2R+ Drosophila cells.

OMIM refers to the Online Mendelian Inheritance in Man website at NCBI.

Wikipedia lists additional synonyms for sub-types of mucopolysaccharidosis, including Hurler syndrome, Hunter syndrome, Murquio syndrome, Maroteaux-Lamy syndrome, Sly syndrome and Natowicz syndrome.

Based on no other evidence than the fact that these fly genes have only systematic "CG#" names, not 'real' fly gene names, I'm guessing this is an under-studied group of genes in the fly.

Thursday, July 12, 2012

Bluetongue Virus. Breaking Report.

Bluetongue virus (BTV) has an impact on human health as a disease of livestock. It most commonly affects sheep, an important source of food and wool. BTV is normally transmitted by biting midges, cousins of the fruit fly in the order Diptera.

Shaw AE, Veronesi E, Maurin G, Ftaich N, Guiguen F, Rixon F, Ratinier M, Mertens P, Carpenter S, Palmarini M, Terzian C, Arnaud F. Drosophila melanogaster as a model organism for bluetongue virus replication and tropism. J Virol. 2012 Jun 6. PubMed PMID: 22674991

Want to get started learning more about BTV? Here is an example of a review on BTV that has been cited by more than ten papers and is freely available online: Schwartz-Cornil I, Mertens PP, Contreras V, Hemati B, Pascale F, Bréard E, Mellor PS, MacLachlan NJ, Zientara S. Bluetongue virus: virology, pathogenesis and immunity. Vet Res. 2008 Sep-Oct;39(5):46. Epub 2008 May 22. PubMed PMID: 18495078

Galactosemia. Breaking Report.

Jumbo-Lucioni PP, Hopson ML, Hang D, Liang Y, Jones DP, Fridovich-Keil JL. Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia. Dis Model Mech. 2012 Jul 5. PubMed PMID: 22773758

Relevant genes include:  Galt 

Wednesday, July 11, 2012

Drosophila as a model of Tauopathies. Reviews.

Below is a partial list of review articles on modeling tauopathies in Drosophila.
Wondering what's a tauopathy? Try starting at Wikipedia.

Gistelinck M, Lambert JC, Callaerts P, Dermaut B, Dourlen P. Drosophila models of tauopathies: what have we learned? Int J Alzheimers Dis. 2012;2012:970980. Epub 2012 Jun 4. PubMed PMID: 22701808; PubMed Central PMCID: PMC3373119.

Cowan CM, Sealey MA, Quraishe S, Targett MT, Marcellus K, Allan D, Mudher A. Modelling tauopathies in Drosophila: insights from the fruit fly. Int J Alzheimers Dis. 2011;2011:598157. Epub 2011 Dec 29. PubMed PMID: 22254145; PubMed Central PMCID: PMC3255107.

Papanikolopoulou K, Skoulakis EM. The power and richness of modelling tauopathies in Drosophila. Mol Neurobiol. 2011 Aug;44(1):122-33. Epub 2011 Jun 17. Review. PubMed PMID: 21681411.

Wentzell J, Kretzschmar D. Alzheimer's disease and tauopathy studies in flies and worms. Neurobiol Dis. 2010 Oct;40(1):21-8. Epub 2010 Mar 17. Review. PubMed PMID: 20302939; PubMed Central PMCID: PMC2894260.

Iijima-Ando K, Iijima K. Transgenic Drosophila models of Alzheimer's disease and tauopathies. Brain Struct Funct. 2010 Mar;214(2-3):245-62. Epub 2009 Dec 5. Review. PubMed PMID: 19967412; PubMed Central PMCID: PMC2849836.

Khurana V. Modeling Tauopathy in the fruit fly Drosophila melanogaster. J Alzheimers Dis. 2008 Dec;15(4):541-53. Review. Erratum in: J Alzheimers Dis. 2009 Mar;16(3):667-8. PubMed PMID: 19096155.

Mudher A, Newman TA, Chee F, Shepherd D. Using Drosophila models to unravel pathogenic mechanisms that underlie neurodegeneration in tauopathies. SEB Exp Biol Ser. 2008;60:25-38. Review. PubMed PMID: 18309785.

Rockenstein E, Crews L, Masliah E. Transgenic animal models of neurodegenerative diseases and their application to treatment development. Adv Drug Deliv Rev. 2007 Sep 30;59(11):1093-102. Epub 2007 Aug 17. Review. PubMed PMID: 17869376.

Götz J, Deters N, Doldissen A, Bokhari L, Ke Y, Wiesner A, Schonrock N, Ittner LM. A decade of tau transgenic animal models and beyond. Brain Pathol. 2007 Jan;17(1):91-103. Review. PubMed PMID: 17493043.