This paper describes a molecular characterization of the Drosophila ortholog of human TP53 (p53), a gene commonly associated with cancer. The authors report that fly and human p53 proteins "generally showed a similar energetic and functional response to cancer associated mutations."
Herzog G, Joerger AC, Shmueli MD, Fersht AR, Gazit E, Segal D. Evaluating Drosophila p53 as a model system for studying cancer mutations. J Biol Chem. 2012 Nov 7. PubMed PMID: 23135266.
Friday, November 9, 2012
Thursday, November 8, 2012
Fly used to test disease-associated alleles. IMAGe syndrome. Recent report.
In this study, the authors expressed disease-associated mutations in
CDKN1C in the fly eye. They report that expression of disease-associated
forms but not wild-type caused eye growth defects.
Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788-92. doi:10.1038/ng.2275. PubMed PMID: 22634751; PubMed Central PMCID: PMC3386373.
Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788-92. doi:10.1038/ng.2275. PubMed PMID: 22634751; PubMed Central PMCID: PMC3386373.
Myotonic Dystrophy Type I. Recent report.
Llamusi B, Bargiela A, Fernandez-Costa JM, Garcia-Lopez A, Klima R, Feiguin F, Artero R. Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model. Dis Model Mech. 2012 Nov 1. PubMed PMID: 23118342.
Friday, November 2, 2012
Flies & Depression.
I did a search today at DIOPT-DIST with "major depressive disorder" (exact match). A long list of human genes identified through genome-wide association study (GWAS) or listed at Online Mendelian Inheritance in Man (OMIM) pop up in the search results.
Below are genes with high-confidence DIOPT scores as of Nov. 2, 2012 (I'm noting the date because after future updates, the numbers and scores might change). I've opted to show here only the genes with DIOPT scores of seven or better--repeat the search with similar or looser criteria to find many additional putative orthologs of genes linked by GWAS or OMIM to depression.
Of course it would be next to impossible to identify a "depressed" fly--a term that may not even be relevant to flies. But flies are not just useful to study diseases that can be recapitulated in comparable tissues, organs etc. and displaying phenotypes comparable to the human disease. Flies also useful to dissect interconnected genetic networks and signaling systems, which can be conserved in structure even when they're not regulating the same end outcomes.
Below are genes with high-confidence DIOPT scores as of Nov. 2, 2012 (I'm noting the date because after future updates, the numbers and scores might change). I've opted to show here only the genes with DIOPT scores of seven or better--repeat the search with similar or looser criteria to find many additional putative orthologs of genes linked by GWAS or OMIM to depression.
Of course it would be next to impossible to identify a "depressed" fly--a term that may not even be relevant to flies. But flies are not just useful to study diseases that can be recapitulated in comparable tissues, organs etc. and displaying phenotypes comparable to the human disease. Flies also useful to dissect interconnected genetic networks and signaling systems, which can be conserved in structure even when they're not regulating the same end outcomes.
FlyBaseID
|
Fly Symbol
|
Human GeneID
|
Human Symbol
|
FBgn0037094
|
CG7611
|
80232
|
WDR26
|
FBgn0037382
|
Hpr1
|
9984
|
THOC1
|
FBgn0033757
|
muskelin
|
4289
|
MKLN1
|
FBgn0000163
|
baz
|
56288
|
PARD3
|
FBgn0040777
|
CG14767
|
9741
|
LAPTM4A
|
FBgn0039169
|
CG5669
|
6671
|
SP4
|
FBgn0243513
|
cnir
|
29097
|
CNIH4
|
FBgn0001075
|
ft
|
79633
|
FAT4
|
FBgn0005671
|
Vha55
|
526
|
ATP6V1B2
|
FBgn0001991
|
Ca-alpha1D
|
775
|
CACNA1C
|
FBgn0030778
|
CG4678
|
1368
|
CPM
|
FBgn0010315
|
CycD
|
894
|
CCND2
|
FBgn0001104
|
G-ialpha65A
|
2773
|
GNAI3
|
FBgn0016983
|
smid
|
4931
|
NVL
|
FBgn0260964
|
Vmat
|
6570
|
SLC18A1
|
Larval stage fly model of Alzheimer's Disease. Recent report.
Sinadinos C, Quraishe S, Sealey M, Samson PB, Mudher A, Wyttenbach A. Low Endogenous and Chemical Induced Heat Shock Protein Induction in a 0N3Rtau-Expressing Drosophila Larval Model of Alzheimer's Disease. J Alzheimers Dis. 2012 Oct 31. PubMed PMID: 23114515.
Knockdown of SMN in fly neurons and muscles. Recent report.
Loss of SMN1 activity leads to Spinal Muscular Atrophy (SMA). In this study, the fly ortholog of SMN1 was knocked down by RNAi in neurons and muscles.
Timmerman C, Sanyal S. Behavioral and electrophysiological outcomes of tissue-specific Smn knockdown in Drosophila melanogaster. Brain Res. 2012 Oct 25. doi:pii: S0006-8993(12)01692-7. 10.1016/j.brainres.2012.10.035. PubMed PMID: 23103409.
Timmerman C, Sanyal S. Behavioral and electrophysiological outcomes of tissue-specific Smn knockdown in Drosophila melanogaster. Brain Res. 2012 Oct 25. doi:pii: S0006-8993(12)01692-7. 10.1016/j.brainres.2012.10.035. PubMed PMID: 23103409.
AMP Kinase & Parkinsons. Fly model in action. Recent report.
Ng CH, Guan MS, Koh C, Ouyang X, Yu F, Tan EK, O'Neill SP, Zhang X, Chung J, Lim KL. AMP Kinase Activation Mitigates Dopaminergic Dysfunction and Mitochondrial Abnormalities in Drosophila Models of Parkinson's Disease. J Neurosci. 2012 Oct 10;32(41):14311-14317. PubMed PMID: 23055502.
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