HGNC Newsletter Spring/Summer 2016
There are currently 39819 approved symbols
In this newsletter
We would like to introduce a new member of our team: Dr Bryony Braschi, who joined the project in March 2016 as maternity cover for Dr Ruth Seal. Bryony completed a BSc in Biochemistry in 2001 and a PhD in Molecular Evolution in 2005 at the University of York.
As many of you already know, the remit of the HGNC has expanded to naming the orthologs of human genes across vertebrates. We are currently transferring human gene names to their chimp orthologs. Initially, data from our HCOP tool is used to find the consensus from resources providing ortholog predictions. Then we also look at mapping tracks for both species from Ensembl and NCBI and check for overlap in their gene model predictions for the chimp genes; in addition it is helpful to look for conserved flanking genes to help ensure we transfer names to the true orthologs.
We are also keen to avoid the use of human phenotypes in gene nomenclature wherever possible as they may not be relevant across non-human species. In many cases, the symbol associated with a gene has become so well established in the literature it would not be helpful to change it. So in these situations we retain the symbol, but add a more descriptive, functional name where possible. For example, we have updated the name of RB1 from "retinoblastoma 1" to "RB transcriptional corepressor 1".
We would like to remind our users that we have a twitter account. Please follow @genenames for all our latest news, including important new gene family releases.
We are continually adding more manually curated gene families to our site and currently have over 950 gene family pages. Recently added families include the arrestins, sialyltransferases, scavenger receptors, FOS and JUN transcription factor families, the BCL2 homology region 3 (BH3) only family, the exon junction complex and the LIM domain containing family. Thanks to Dr Anne Harduin-Lepers for agreeing to act as our specialist advisor for the sialyltransferases and helping us with their nomenclature.
If you are working on a gene family that you would like to see in our resource please let us know.
There has been some promising research into gene therapy for Duchenne Muscular Dystrophy, caused by mutation of DMD, coding for the protein dystrophin. This is a particularly large gene (2.5mb, containing 79 exons) which causes a problem in its delivery using a gene therapy vector.
Researchers at the University of Missouri have developed a "microgene" version of the DMD gene and used an adeno-associated virus to deliver it into the muscles of their dog model. The dogs began to show disease symptoms at 2-3 months old, when they were injected and they then showed normal development at 6-7 months old when the study ended.
Susan attended the 2016 International Plant & Animal Genome (PAG) XXIV conference on January 9-13, 2016 in San Diego, USA. She gave a talk as part of the 'Genome annotation resources at the EBI' Workshop and presented a poster about our work on naming genes across vertebrate species.
Loughner CL, Bruford EA, McAndrews MS, Delp EE, Swamynathan S, Swamynathan SK. Organization, evolution and functions of the human and mouse Ly6/uPAR family genes.Hum Genomics 2016 Apr 21; 10(1):10. PMID:27098205 PMCID:PMC4839075
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