|WikiProject Genetics||(Rated B-class, High-importance)|
|WikiProject Molecular and Cell Biology||(Rated B-class, Low-importance)|
|WikiProject Medicine / Medical genetics||(Rated B-class, Low-importance)|
An example out of place?
Like other types of genetic variation, some CNVs have been associated with susceptibility or resistance to disease. Gene copy number can be elevated in cancer cells. For instance, the EGFR copy number can be higher than normal in non-small cell lung cancer. [7
- Why the clause about cancer comes after the phrase about susceptibility? As I understand, the tumour is usually the place where mutations are rife, so CNVs in the tumour cells are likely not the CNVs that the organism inherited or has been having since conception. If I'm right, the two sentences about cancer should be separated into another paragraph. --CopperKettle (talk) 20:42, 19 November 2008 (UTC)
I think the intro paragraph could be more helpful. It currently defines "copy-number variation" in terms of "copy-number differences", which is essentially the same thing. I would also question whether it's correct to say CNVs are "segments of DNA." It seems to me that CNVs affect segments of DNA. --Krokicki (talk) 21:34, 17 December 2008 (UTC)
Q: Just curiosity on my part, but you seem to use terminology other than CNV in the paper: things like unbalanced micro-rearrangements. Is that just a preference of nomenclature or is there some theoretical thing embedded in that?
EE: Actually, that stems from complaints from the cytogenetics community. There are well-established professors in cytogenetics that have criticized the use of CNV to refer to something that is pathogenic. And that’s because implied in copy number variant, at least until probably last year, was the idea that variant equals benign. Microdeletion and microduplication to cytogeneticists typically means that you have something pathogenic, but there was actually a move among a few cytogeneticists to write a white paper or a piece that would help clarify this. But I would have to say that in the last year there’s been so much interchange between the use of CNV and microdeletion and microduplication, I think it’s a foregone conclusion now that it's almost impossible to stem that tide and change the usage back to the way that cytogeneticists viewed it originally.
What is a Copy Number?
This article talks about "copy number" as if it were a specifically genetic phenomenon, which leads me to believe that it isn't simply the "number of copies" of a gene, but is rather some other thing -- an internal count of the number of times a gene has been copied, perhaps? That seems strange to me, but it's the only obvious way to make sense of this article. I think there needs to be a definition of "copy number" before it's clear what a "copy number variation" is. 184.108.40.206 (talk) 15:34, 15 October 2009 (UTC)
You don't really explain why that's the only obvious way to make sense of the article. Your first belief is correct, simply the number of copies of a genetic region (not gene per say). —Preceding unsigned comment added by 220.127.116.11 (talk) 16:58, 9 March 2010 (UTC)
Proposal to change the name of this article
I propose changing the name of this article from "Gene copy number" to "Copy number variation". Comments? --Fat Cigar 14:33, 16 August 2008 (UTC)
- I'm in favour. There is already a redirect from 'Copy number variant' to 'Gene copy number'. T0mpr1c3 (talk) 15:08, 27 August 2008 (UTC)
Currently the second sentence of the article says
CNVs correspond to relatively large regions of the genome that have been deleted (fewer than the normal number) or duplicated (more than the normal number) on certain chromosomes
The sentence doesn't make clear what is being deleted or duplicated. Is it the nucleotide sequence itself, including enhancers and other factors? Also is this on an population level or organism level? I don't know anything about CNVs so I cannot disambiguate, but I hope someone with expertise can. Paulish (talk) 19:43, 10 September 2012 (UTC)