HGNC Newsletter Summer 2012
There are currently 33417 approved symbols
In this newsletter
We would like to introduce a new member of our team: Kristian Gray, who joined the project in May. Kris studied a B.Sc. in Microbiology at Imperial College London and a M.Sc. in Bioinformatics at the University of Manchester. In 2001 he joined the Wellcome Trust Sanger Institute as a laboratory scientist for the Cancer Genome Project before becoming a senior web developer/bioinformatician within the Core Software Services team at the same institute. Now within the HGNC Kris is the team's scientific programmer providing bioinformatical and IT support.
Is this a dagger which I see before me? quite possibly
The i's have it
We have two new gene family pages:
2. Microsomal glutathione S-transferases
3. Mitochondrial (kappa) glutathione S-transferase
One gene family has been renamed:
The adrenergic receptors have been renamed to adrenoceptors. This is reflected in the updated names of the associated members and represents common usage in the literature. The root symbol ADR# remains the same.
We are happy to report that HGNC symbols continue to appear in the international media. Many of these news articles report the connection between specific genes and disease: a mutation in the APP gene has been found in 1% of the Icelandic population that offers its carriers protection from Alzheimer disease; increased expression of the FOXO1 gene has been found in the brains of patients with Parkinson disease; a polymorphism in the GNL3 gene has been linked to osteoarthritis; mutations in the X-linked AFF2 gene have been associated with autism in boys; researchers have linked a mutation in the PHF21A gene with Potocki-Shaffer syndrome; and women with high methylation levels of the ATM gene in white blood cells have been shown to be at higher risk of developing breast cancer.
In drug function-related news, researchers have recently discovered why anti-TNF drugs, which have been successful in providing treatment for other immune-related disorders, have actually exacerbated multiple sclerosis: a variant of the TNFRSF1A gene that has been previously linked to the disease encodes a short form of the TNFRSF1A protein. This shortened protein blocks TNF signalling, thereby having the same effect as the anti-TNF drugs. Finally, a recent study has provided hope for the development of future reversible male contraceptives following the discovery in mice that the KATNAL1 ortholog is needed for the final stages of sperm development.
The HGNC will be presenting its future plans for naming genes across vertebrate species at two conferences in Cambridge in this September: Elspeth and Ruth are attending Genome Informatics 2012 at Robinson College from the 6-9th of the month; and Elspeth and Matt are attending the Livestock Genomics meeting from September 9th-11th.
Louise C Daugherty, Ruth L Seal, Mathew W Wright and Elspeth A Bruford. Gene family matters: expanding the HGNC resource. Human Genomics 2012, 6:4 (5 July 2012) doi:10.1186/1479-7364-6-4
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