Thanks for asking! One thing I forgot to say in my previous post was that I was also monumentally tired and a little tipsy and may just fuck off to bed and forget that I'd been bored and wanted to chat about it
This is something that has come to much greater understanding to geneticists and cat-fanatics since the feline genome project, and may conflict with what folks were taught at school/college genetics classes that pre-date that.
Like in humans, red hair is caused by an MCR1 gene - this doesn't *make* hair/fur red, it supresses the production of eumelanin (brown pigment) without suppressing phyomelanin (red pigment) production. So most cats that are not red, produce both red pigment and brown pigment - in varying quantities and densities controlled by other genes. Those with red hair have production of brown pigment suppressed, so only red hair grows. The same goes for redhaired humans.
What differs in cats, is that the MCR1 gene is on the X chromosone, meaning that whether a cat produces its "base" colour or not depends on whether it has the MCR1 gene on its X chromosomes - like in humans, females have 2 X chromosomes, and males have 1.
So for a female cat to be red, it needs to have 2 copies of the MCR1 gene, one on each X chromosome. A male only has 1 X chromosome and so can more readily be red - around 3/4 of red cats are male. It is not rare for a female to be red though, 1/4 of all red cats is still a lot of female red cats!
So how do female cats end up tortoishell? Because the MCR1 gene is on the X chromosome and females have 2 X chromosomes, they can either be non-red (2 X chromosomes without the MCR1 gene) or red (2 X chromosomes with the MCR1 gene). Tortoishell happens when a female cat has an MCR1 gene on one X chromosome but not the other. In a human (where the gene is not on a sex-linked chromosome), this would result in the individual just carrying the red haired trait, maybe passing it on to future generations.
When a gene is on the X chromosome what happens is this - after a few cell divisions when the ovum is first fertilised, there is a random process that switches off one of the X chromosomes in each cell. This probably happens at around the 8 cell stage in cat embryos. That means that in female cat embryos that carry the gene, there will be a mix of cells - some with the MCR1 gene switched on and some with it switched off - and that is carried forward in every further cell division - so you can get tortie cats with a brindle effect, or with patches of colours, depending upon where those cells migrated to during embryonic development - it would be impossible to clone a tortie cat for identical looks btw, because although you could give it the exact same DNA, you could not control which chromosomes switched off, and where the cells that divided from them ended up in the skin - that's very random.
So how do a few male cats end up with tortie markings? There are 3 potential causes:
1 - XXY Klinefelter syndrome - yes this is a thing in cats, and rarely a cat appears to be physically male but with an extra X chromosome - the X chromosone switchoff mechanic works the same in these cats in the early embryonic stage, so they can display tortie markings. They are usually infertile, but otherwise nothing wrong.
2 - Chimerism - this occurs when 2 different embryos (we're talking small cell clusters, not formed recognisable kittens) fuse together in the womb - if 1 embryo has the MCR1 gene and the other does not and the resulting kitten is male, it will be a male with tortie markings. They may or may not be fertile, it varies. If fertile and bred from, they can potentially produce kittens that would be expected from both MCR1 and non MCR1 pairings, it depends upon the individual.
3 - Birthmarks - yes it can be that simple
- just like humans can have birthmarks so can cats - this seems to affect certain breeds more than others, Cornish Rex seem to be quite prone to them, and there have been several cases of male Cornish Rex that appear tortie from birth (obviously any change in skin that occurs after that should be investigated in case of melanoma). They are fertile, and when bred display that their genetics are either red or black, not both - so they are either genetically red-haired or genetically not red-haired and will pass on whichever of those applies, not both - the patches on their skin/fur are just markings similar to port wine stains or other birthmarks in humans.