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annotating to pseudogenes

Pascale Gaudet pgaudet at northwestern.edu
Tue Mar 14 07:52:11 PST 2006


This from the GO guidelines: "There is an important distinction between a 
gene/gene product annotated to "unknown" function, process, and/or 
component, and one that has not been annotated. "Unknown" means that 
someone has tried annotating the gene, but didn't find any information. 
Absence of annotation implies that no one has looked. "

Also, "unknown" is different from "no function". From the limited 
information there is on pseudogenes, it seems safer to say that we don't 
know what they do rather than we know that they don't have a function.

Pascale


At 10:38 AM 3/14/2006 -0500, Alexander Diehl wrote:
>As David and others alluded to earlier, not all pseudogenes are created 
>equal.  Some may function as the source of anti-sense RNA to regulate gene 
>function.  Some may serve as the source of material for gene-conversion 
>processes.  And some may simply be evolutionary relics not subject to 
>positive selection whatsoever.
>
>The first role may be appropriate for GO, as there is a gene-product 
>involved.  In the other two cases, I think no annotation at all is 
>appropriate, until and unless an identifiable gene product is found.
>
>-- Alex
>
>
>Christiane Hertz-Fowler wrote:
>>Hi,
>>
>>we have also been struggeling with this for a while during the
>>annotation of pathogen genomes. Particularly in the case of the
>>Trypanosoma brucei genome which encodes in excess of 1,000 pseudogenes
>>(out of approx. 9,000 genes). There is experimental evidence that
>>fragments/parts of pseudogenes can recombine to produce functional genes
>>which are expressed. We have assigned GO terms to these pseudogenes,
>>though this is was more for internal purposes at this stage and these
>>associations don't make it either into GeneDB or (obviously) the gene
>>association files. The definition of a pseudogene as listed below is
>>probably in line with this but could possibly be extended to capture
>>this oddity. However, I would disagree with not being able to assign GO
>>terms to pseudogenes  ...
>>contrary to the last couple of e-mails.
>>
>>Regards,
>>
>>Christiane
>>
>>
>>-----Original Message-----
>>From: owner-annotation at genome.stanford.edu
>>[mailto:owner-annotation at genome.stanford.edu] On Behalf Of David Hill
>>Sent: 14 March 2006 13:51
>>To: Suzanna Lewis
>>Cc: Rama Balakrishnan; Sue Rhee; song-devel at lists.sourceforge.net;
>>Pascale Gaudet; Barry Smith; GO Annotation list
>>Subject: Re: annotating to pseudogenes
>>
>>
>>I agree with Suzi, 100%
>>
>>David
>>
>>Suzanna Lewis wrote:
>>
>>
>>>Hmm, this seems to me to raise some questions regarding dual uses for
>>>unknown. It the case of gene products where you simply do not *yet* 
>>>known the function they are annotated to 'unknown'. But conversely, if
>>>
>>
>>
>>>we look at the definition from the SO, a pseudogene is clearly something 
>>>that has *no* function:
>>>
>>>"Pseudogene: A sequence that closely resembles a known functional
>>>gene, at another locus within a genome, that is *non-functional* as a 
>>>consequence of (usually several) mutations that prevent either its 
>>>transcription or translation (or both). In general, pseudogenes result
>>>
>>
>>
>>>from either reverse transcription of a transcript of their "normal" 
>>>paralog (SO:0000043) (in which case the pseudogene typically lacks 
>>>introns and includes a poly(A) tail) or from recombination (SO:0000044) 
>>>(in which case the pseudogene is typically a tandem duplication of its 
>>>"normal" paralog)."
>>>
>>>http://song.sourceforge.net/SO_view/index.html
>>>(caution, may take some time to load)
>>>
>>>Annotating pseudogenes to "unknown" implies that they have a function
>>>(but it is not yet known), but pseudogenes have no function by 
>>>definition, so there is a contradiction.
>>>
>>>-S
>>>
>>>On Mar 13, 2006, at 12:02 PM, Rama Balakrishnan wrote:
>>>
>>>
>>>>Hi Sue,
>>>>
>>>>At SGD, we also annotate pseudogenes to unknown.
>>>>
>>>>rama
>>>>
>>>>On Mar 13, 2006, at 11:49 AM, Pascale Gaudet wrote:
>>>>
>>>>
>>>>>Hi Sue,
>>>>>
>>>>>At dictyBase we annotate pseudogenes to unknown.
>>>>>
>>>>>Pascale
>>>>>
>>>>>
>>>>>At 11:45 AM 3/13/2006 -0800, Sue Rhee wrote:
>>>>>
>>>>>
>>>>>>Hi all:
>>>>>>
>>>>>>We are discussing whether/how to annotate to pseudogenes at TAIR.
>>>>>>We are debating whether to annotate them to 'unknown' terms or not 
>>>>>>annotate them at all. I'd like to know how the other MODs are handling them.
>>>>>>
>>>>>>Thanks for your input,
>>>>>>Sue
>>>>>>
>>>>>
>>
>>
>>
>
>--
>Alexander Diehl, Ph.D.
>Scientific Curator
>Mouse Genome Informatics
>The Jackson Laboratory
>600 Main Street
>Bar Harbor, ME  04609
>
>email:  adiehl at informatics.jax.org
>work:  +1 (207) 288-6427
>fax:  +1 (207) 288-6131





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