Also another misconception: There aren’t like a small number of genes and it’s not like each gene has a specific function. There are soooooo many genes and they all interact in unique and interesting ways. We’ve been trying to figure out what genes do what and how they interact for decades and have had only limited success.
Think of it like a lot of source code, but the source code is millions of years old and written by junior devs on their first week whilst high. There is a lot of stuff in there that does nothing, or seems to do a lot of things only to be completely voided by some other piece of code. Or it actually does something, but on the macro scale it’s pretty useless and doesn’t matter at all. All the code is spaghetti code, it all interacts and somehow a human being is formed by the result. To put this into context: mice have about 80% of the same sourcecode as us.
Ranvier@sopuli.xyz 4 weeks ago
Thank you for clarifying those misconceptions about what recessive and dominant are getting at. A gene isn’t really dominant or recessive. A phenotype (some trait in the organism like blue eyes or a certain disease) can be dominant or recessive though and results from changes in a gene. The same gene could have many different possible mutations, some with dominant effects, some with recessive effects, or some with no effects, depending on the change in the gene and the phenotype.
To go further on that, many recessive diseases are because just one functional copy of many genes are fine from your body’s perspective. Many recessive diseases are due to loss of function of a gene or its protein product, a gene that for a variety of potential reasons no longer leads to a functional protein. Often your body can get by with just one working gene making protein, though both genes are generally always being transcribed and trying to be turned into functional protein.
One big exception to this is the x chromosome. Males only have one x and have a y instead of a second x. The y is very tiny and has very few genes compared to the x, quite different from other chromosome pairs which generally just have copies of all the same genes on each other. Early in embryo development for xx individuals, one of the x chromosomes is generally inactivated, otherwise xx individuals would have double the gene products of all those different genes compared to males, which the body is not expecting for x genes like it does for all the other genes that have a second copy.
en.m.wikipedia.org/wiki/X-inactivation
If you go even further you also get into the idea of penetrance. A gene codes for a protein, but that protein doesn’t exist in isolation, it interacts with lots of other proteins coded by other genes in the body, plus the environment. So for some genetic changes it might be a 100% chance at leading to a certain phenotype (like a disease or a specific trait), or it could be less, like only 70% or 30% chance or something.
AmidFuror@fedia.io 4 weeks ago
Best explanation so far. Nice work.
A couple of side points. OP's X chromosome is definitely expressed. It has many genes that are essential to both men and women. It's genes are not exclusively relating to sex differences. In fact, far from it.
Sex determination in humans is due (mostly) to a few genes on the Y chromosome. These both determine which sex organs will develop and also are critical for male fertility.
One of the major consequences of having a Y chromosome that doesn't recombine with it's partner X chromosome is that the Y chromosome has a tendency to lose genes and shrink over evolutionary times. This is prevented on chrX because it can recombine in females. It happens on chrY because there is little mechanistically to prevent it, and mutations resulting in loss are more common than those resulting in gain.
Ranvier@sopuli.xyz 4 weeks ago
Oh yes absolutely op’s x chromosome is expressed. I just meant unlike all the other chromosomes where in general both gene copies on both chromosomes are expressed, in xx individuals usually one of the x chromomes is inactivated and only one of them is being expressed at a time. The x chromosome has many essential genes. This is why we have x linked genetic diseases as well. Often xx individuals are just carriers or more mildly affected since they have two x chromosomes, and xy individuals are more severely affected since they have no backup copies of that gene.