Why Do Certain Genes Vary in Number?

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Discussion Overview

The discussion revolves around the variation in gene copy numbers, specifically focusing on the amylase gene in humans and its correlation with dietary habits. Participants explore the implications of gene duplication in both humans and plants, examining how these variations may confer advantages in protein expression and adaptation.

Discussion Character

  • Exploratory
  • Technical explanation
  • Conceptual clarification
  • Debate/contested

Main Points Raised

  • One participant notes that populations with higher carbohydrate diets tend to have more copies of the amylase gene, questioning how this might be beneficial and whether more copies lead to better expression.
  • Another participant references a discussion on ResearchGate that suggests gene copy number may relate to the concentration levels of proteins needed in large amounts.
  • Some participants propose that multiple gene copies allow for a 'parallel process' in transcription, potentially leading to faster protein production.
  • A later reply highlights that the articles referenced discuss different organisms (humans vs. bacteria), indicating a need to differentiate the contexts of gene copy number variation.
  • One participant cites research indicating a positive correlation between salivary amylase gene copy number and protein levels, supporting the idea that dietary habits influence gene variation.
  • Another participant introduces the concept of polyploidy in plants, discussing how it can lead to duplicate alleles and varying traits, such as yield and kernel size in wheat.
  • There is mention of the complexities in biology, where many observations may not hold universally, as seen in the case of cultivated versus wild strawberries.

Areas of Agreement / Disagreement

Participants express various viewpoints on the benefits of gene copy number variation, with some supporting the idea that it enhances protein expression while others introduce examples from plant genetics. The discussion remains unresolved regarding the broader implications and mechanisms behind these variations.

Contextual Notes

The discussion includes references to specific studies and articles, but there are limitations in the assumptions made about the applicability of findings across different species and contexts. The relationship between gene copy number and protein expression is not fully established and remains a topic of exploration.

Who May Find This Useful

This discussion may be of interest to those studying genetics, evolutionary biology, and plant biology, as well as individuals curious about the relationship between diet and genetic variation.

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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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.
 
Last edited by a moderator:
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.
 
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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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.
 
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!
 

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