Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
This can happen as a result of nondisjunction of sex chromosomes during meiosis, and it happens more frequently in sperm cells - but egg cells can also be affected.
Every once in a while, when we do that test and we sequence that DNA, there's an extra chromosome 21,13, or 18, or a change in the sex chromosome material.
One of these pairs, the sex chromosomes, determines person's biological sex and it can be composed of either two X chromosomes for females or an X and a Y chromosome for males.
Instead, when you look across the animal kingdom, the animals that die earlier, regardless of their sex, have something else in common: they have a small sex chromosome.
Like, it can mean having different combinations of sex chromosomes – as in Klinefelter Syndrome, which creates chromosomes XX and Y, or in Triple-X Syndrome, which results in XXX.
Variants in many other genes may also prevent production of either eggs or sperm. Some people even have different combinations of sex chromosomes in different cells of their bodies.
And so what we think happened in this rat is they actually shed that extra xy chromosome or those sex chromosomes and they're able to reproduce as a tetraploid animal.
And eventually, someone was like, " Well, if that one thing's called X, should we call this other thing Y? " And like that, (Snaps fingers) the sex chromosomes had been discovered.
最后,有人说,“好吧,如果那个东西叫 X,我们应该把另一个东西叫 Y 吗? ” 就这样,(打响指)染被发现了。
There are two possible explanations for why this trend exists: one is that having more big sex chromosomes is better, and the other is that having a small sex chromosome is worse.