Why Do Certain Genes Vary in Number?

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In summary, the article discusses how humans and some other animals secrete amylyse in their saliva, and how this enzyme breaks down starch into sugars. The article also discusses how different populations have more or fewer copies of a gene that codes for this enzyme, and how this gene may be beneficial.
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Drakkith
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So I was reading wikipedia, browsing through various genetics-related articles, when I stumbled across the article for Amylyse, an enzym that breaks down starch into sugars. Apparently humans (and a few other animals) secrete amylyse in their saliva as a result of the expression of a certain gene that was originally expressed only in the pancreas.

My question has to do with the number of copies of this gene. According to the article, populations that have historically consumed higher proportions of carbohydrates in their diet have more copies of this gene (upwards of six) than populations which have a smaller proportion of their diet as carbs (who have 2-3 copies).

How is having more copies of a certain gene beneficial? Does having more copies lead to better expression?

(As as a side note, I just learned about endogenous retroviruses and endogenous viral elements. It's amazing to think that we've evolved to use some of these viral genes)
 
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  • #2
That sounds reasonable.

I found this discussion on researchgate

http://www.researchgate.net/post/Why_do_some_genes_have_multiple_copies_in_a_bacteria_genome_while_some_genes_have_only_one

There they talk about the concentration levels.
 
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  • #3
Okay. So what I'm getting is that genes which encode for proteins that are needed in large amounts have multiple copies, enabling the cell to do a sort of 'parallel process' for transcribing the DNA, enabling faster production of these proteins.
 
  • #4
Drakkith said:
Okay. So what I'm getting is that genes which encode for proteins that are needed in large amounts have multiple copies, enabling the cell to do a sort of 'parallel process' for transcribing the DNA, enabling faster production of these proteins.

That would seem like it. But the second article you [oops, saw the wrong poster, edited after Drakkith's post below] article that jedishrfu linked to is about bacteria, whereas the Wikipedia article is about people. Wikipedia itself gives as a reference:


https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2377015/
Perry et al, Diet and the evolution of human amylase gene copy number variation


The way the multiple genes are arranged on chromosomes is given in some detail in:

Groot et al, The human alpha-amylase multigene family consists of haplotypes with variable numbers of genes.
https://www.ncbi.nlm.nih.gov/pubmed/2788608
 
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  • #5
Thanks atyy. From the referenced article:

We found that salivary amylase gene (AMY1) copy number is correlated positively with salivary amylase protein levels, and that individuals from populations with high-starch diets have on average more AMY1 copies than those with traditionally low-starch diets.

So it looks like the explanation in Jedi's link is at least plausible.
 
  • #6
Hmm. Let's look at plants. Duplicate alleles can be "arrived at" with polyploidy as well as multiple loci.
Wheat genus Triticum at a glance:

Bread wheat (T. aestivum) – hexaploid (6n) species
Spelt (T. spelta) – 6n sometimes clsssified as a subspecies of
T. aestivum.
Durum (T. durum) – (4n) Pasta wheat. With bread wheat
makes up almost all of the modern cultivation of wheat.
Emmer (T. dicoccon) – (4n)
Khorasan (T. turgidum ssp. turanicum) (4n)
Einkorn (T. monococcum) – 2n thought to be a common ancestor of more
modern wheat species.

Yields, number and size of kernels vary with ploidy from 2n (lesser) -> 6n (greater)

Doubling chromosome number has apparently been a useful adaptive trick for grass species -
Panicum virgatum switchgrass has several different choromosome numbers usually localized
to a habitat. Switchgrass grows in all kinds of habitats.
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0038702
https://en.wikipedia.org/wiki/Panicum_virgatum

So what might you expect with cultivated strawberries? The common cultivars are
higher ploidy and so it is. The most commonly grown one is 8n.

And you would expect the wild lesser- ploid species to have smaller fruit - they do.
Mostly. Fragaria virginiana has small fruit but is 8n. Welcome to the wonderful world
of biology where many observations are mostly correct most of the time.

A horticultralists view of polyploidy in strawberries:
http://strawberryplants.org/2011/02/genetics-of-strawberry-plants/
 
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jim mcnamara said:
Welcome to the wonderful world
of biology where many observations are mostly correct most of the time.

Indeed!
 

1. Why do certain genes have different numbers of copies?

Genes can have different numbers of copies due to a process called gene duplication. This occurs when a section of DNA is replicated, resulting in multiple copies of the same gene. These duplicated genes can then undergo mutations, leading to slight variations in their function or expression.

2. How does gene duplication contribute to genetic diversity?

Gene duplication allows for the creation of new and potentially beneficial gene variants. These duplicated genes can accumulate mutations over time, leading to the formation of new genes with unique functions. This genetic diversity can contribute to the adaptation and survival of a species in changing environments.

3. Are all genes susceptible to duplication?

No, not all genes are equally prone to duplication. Some genes, such as those involved in essential cellular functions, are less likely to be duplicated due to the potential risks of disrupting their function. On the other hand, genes that are involved in response to environmental stressors or play a role in evolution are more likely to undergo duplication.

4. Can gene duplication be harmful?

In some cases, gene duplication can be harmful. If a duplicated gene accumulates mutations that lead to a loss of function, it can result in genetic disorders or diseases. Additionally, if too many copies of a gene are present, it can lead to an imbalance in gene expression and disrupt normal cellular processes.

5. How is the variation in gene number related to evolution?

The variation in gene number is closely tied to the process of evolution. As mentioned, gene duplication can lead to the creation of new genes with unique functions, which can contribute to the adaptation and survival of a species. Over time, these duplicated genes can accumulate further mutations and diverge, leading to the development of new species.

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