I am aware of the basics of evolutionary theory, however I don't understand how mutations can add genes over time.

Am I correct in thinking that creatures within the same species who mutate to have an additional gene in their genome would normally be infertile? Or am I misunderstanding that?

Can someone explain the process of the creation of genetic material through evolution? Citation to a decent academic paper or book on the matter would be appreciated too.


1 Answer 1


Mutations can have all sorts of impacts on genetic architecture. A mutation can have a small impact on a genetic architecture such as

  • Substitution
  • Insertion
  • Deletion

or can have a much bigger impact on a genetic architecture such as

  • Amplification (incl. gene duplication)
  • Deletions
  • Chromosomal translocations
  • Interstitial deletions
  • Chromosomal inversions
  • Chromosome duplication
  • Change in ploidy number

Some of these mutations (gene duplication, Chromosome duplication, change in ploidy number) typically allows duplicating DNA segments. After duplication, the two copies of a gene can diverge through neofunctionalization or subfunctionalization. Have a look at wikipedia > gene duplication to understand what biochemical processes can cause such mutations (e.g. ectopic recombination, retrotransposition event, replication slippage).

Am I correct in thinking that creatures within the same species who mutate to have an additional gene in their genome would normally be infertile?

You are being mistaken. I understand the naive intuition that a change in copy number of a given gene would be extremely deleterious but in reality, living organisms seem much more resilient to such Copy-Number Variation (CNV) than you would think. Of course, some CNV are associated with diseases but it is not the case of all (McCarroll and Altshuler 2007).

Gene duplications are actually quite common whether in C. elegans (Lipinski et al. 2011) or in humans (Cotton and Page 2005). Chromosomal duplications are also common (Bowers et al. 2002). Even whole-genome duplications (see a classical example in Wolfe 2015) have played major roles in the evolution of many lineages (Whitton and Otto 2010) including vertebrates (Dehal and Boore 2005).

Below is a phylogenetic tree of sequenced green plant genomes highlighting some of the main events of whole-genome duplication.

enter image description here

For the record, some species of strawberries are decaploid (10 copies) (Hummer 2012). Then there are the extremes. In Entamoeba populations, there can be variation in ploidy level among individuals ranging from diploid (2 copies) to tetracontaploid (40 copies) (Mukherjee et al. 2008)!

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    $\begingroup$ In flower breeding (and perhaps elsewhere) it's quite common to use chemicals to cause chromosome doubling. As far as I can see (but maybe I only see the successes :-)), the usual result is a stronger plant with larger flowers. $\endgroup$
    – jamesqf
    Feb 20, 2017 at 19:51
  • $\begingroup$ Thank you, this is a comprehensive answer! Just will take a little while to process. Any delusions I had of being an educated person are shattered upon getting ten words into a Wikipedia article and not knowing what's going on. $\endgroup$
    – user24803
    Feb 21, 2017 at 7:58

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