2
$\begingroup$

I am told de novo genetic mutations (germ mutations in either parent's sperm or egg cell, or the newly fertilised egg) are not usually inherited, and do not contribute to heritability.

It would seem to me that, intuitively, a de novo mutation would be passed from the affected individual (assuming they survive and are fertile) onto offspring, just like any other inherited mutation. But apparently not.

Why is this?

$\endgroup$
3
  • 2
    $\begingroup$ A germ line mutation will be passed to the offspring only if (1) the individual reproduce (2) the individual reproduce after the mutation has occurred in the germline, (3) the spermatozoid that is transmitted is descendent from the individual cell who had the mutation, (4) the right of the two chromosome is being transmitted (last point applies only if the mutation occurred before the meiosis). $\endgroup$
    – Remi.b
    Nov 6, 2016 at 7:18
  • 1
    $\begingroup$ @Remi.b That sounds like a pretty good argument, can you write up an answer based on it? $\endgroup$
    – Roland
    Nov 6, 2016 at 15:38
  • $\begingroup$ The statements at the beginning of your question seem to be separate issues; I think @Remi.b answered the first part but didn't address the second: "do not contribute to heritability" - this statement might refer to the fitness of the parent to reproduce, which is determined by that parent's phenotype, and not the genotype of the gametes, which is the only thing affected by a germ-line mutation (unless there is a corresponding phenotype effect in the gamete such as reduced sperm motility, or the mutation is lethal, which would clearly affect heritability). $\endgroup$
    – Bryan Krause
    Nov 8, 2016 at 23:27

1 Answer 1

1
$\begingroup$

A germ line mutation will be passed to the offspring only if

  1. the individual reproduces
  2. the individual reproduces after the mutation has occurred in the germline. Indeed if the mutation appears in the testes 5 years after the individual has reproduced then the offspring will never carry this mutation. Note that female mammals make a big storage of ovules early in life while mammal males do not. As a consequence the number of new mutations transmitted to offspring is age-dependent in males but age-independent in females. See this post for more info
  3. the gamete that is transmitted is descendent from the individual cell who had the mutation. There is of course many lineages of gametes and their pattern ancestry will affect what fraction of gametes carry a given mutation.
  4. the right of the two chromosome is being transmitted (last point applies only if the mutation occurred before the meiosis). Of course, there is always segregation who decreases the probability of a new mutation to be transmitted by half.

Of course, there are also all the mutations occurring outside the germ lineages (somatic lineages) which won't be transmitted but you specifically asked for germ line mutations.

$\endgroup$

You must log in to answer this question.

Not the answer you're looking for? Browse other questions tagged .