#426 Create SO term for 'dominant negative'

[Deanna Church]

Can you create an SO term for 'dominant negative'. I think this is a child of http://www.sequenceontology.org/browser/current_svn/term/SO:0001554 but could be convinced otherwise.

[Karen Eilbeck]

Hmmm.
If this could be applied to other gene products( kinds of ncRNA) then we should chose a less specific parent. Does that ever happened? I'm thinking maybe with a miRNA?

Definition from genetics home reference
dominant negative mutation A mutation whose gene product adversely affects the normal, wild-type gene product within the same cell, usually by dimerizing (combining) with it. In cases of polymeric molecules, such as collagen, dominant negative mutations are often more deleterious than mutations causing the production of no gene product (null mutations or null alleles).

Also I notice that lethal variant is probably in the wrong place and should be moved to this part of the ontology.

Let me know your thoughts
--K

[Deanna Church]

Hi-
So, I don't know if this has been described for other types of gene products, but I think it could be. I agree a less specific parent would be useful. In general, I think terms describing mutation consequence (LOF, GOF, dominant negative, etc) should be generic and able to be applied to a gene of any type.

thanks!

[Karen Eilbeck]

SO:0002052 dominant_negative_variant.
I added it as a child of functional variant, moved lethal mutation to be a sibling and aded loF Gof, and null_mutation as siblings. At this level they can be applied to RNA and protein gene products.