Friday, January 30, 2015

Sneak peak--'facelift' to DRSC website including our disease gene ortholog tool

We are undertaking a modest 'face lift' and update to our DRSC website.

Of interest to blog readers--one of the tools we're updating in look is our DIOPT-DIST resource.

DIOPT-DIST associates a fly gene (or other model species gene) with putative human orthologs, and also associates human orthologs with disease information (from OMIM or public GWAS data).

Here's a sneak peak of our new look. As of this post, the links will take you to our original pages, but be on the lookout for the updated look soon! Feedback welcome, now as always.

Here's the original publication describing DIOPT and DIOPT-DIST -- since updated to include an additional ortholog search algorithm and two more model species.

Hu Y, Flockhart I, Vinayagam A, Bergwitz C, Berger B, Perrimon N, Mohr SE. An integrative approach to ortholog prediction for disease-focused and other functional studies. BMC Bioinformatics. 2011 Aug 31;12:357. PMID: 21880147

It's a BioMed Central 'Highly Accessed' publication and is freely available at PMC.

Thursday, January 29, 2015

A call for "a better collaboration between Drosophila geneticists/biologists and human geneticists/ bioinformaticians/clinicians"

Wangler MF, Yamamoto S, Bellen HJ. Fruit Flies in Biomedical Research. Genetics. 2015 Jan 26. pii: genetics.114.171785. PMID: 25624315.

From the abstract: "... numerous very interesting biological processes and avenues remain to be investigated in Drosophila, and probing questions can be answered fast and efficiently in flies ... We would like to promote a better collaboration between Drosophila geneticists/biologists and human geneticists/bioinformaticians/clinicians, as it would benefit both fields and significantly impact the research on human diseases."

Friday, January 23, 2015

Drosophila genetic analysis contributes to study on Gordon Holmes syndrome (GDHS)

Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR. Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. J Clin Endocrinol Metab. 2014 Oct;99(10):E2067-75. PMID: 25033069.

From the abstract:  "... We identified 6 patients from 3 independent families carrying loss-of-function mutations in PNPLA6, which encodes neuropathy target esterase (NTE) ... Wild-type PNPLA6, but not PNPLA6 bearing these mutations, rescued a well-established Drosophila neurodegenerative phenotype caused by the absence of sws, the fly ortholog of mammalian PNPLA6. ..."