X Inactivation

Fun stuff eh!

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Everybody knows about genetics. Everybody knows males have XY sex chromosomes, and everybody knows females have XX sex chromosomes. Well everybody who studied basic biology in high school knows this anyway.

Did you know that “X inactivation has been studied for over half a century?” You should know that if you bothered to read this link, I so generously provided, in my last post. I see Australians are taking a keen interest in my blog at the moment! Geez I wonder why?

My interest in genetics goes way beyond basic high school biology, probably because of this:

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However I’ve been interested in genetics since I was 14, but I wasn’t diagnosed until I was 16, and officially treated since I was 17. I suppose investigations into my suitability to be treated counts as ‘treatment’ in some peoples eyes, but not mine.

All the people I’ve ever seen who claim intersex on the basis of an inactivated X chromosome, that they had no idea was inactivated, because of their limited knowledge, raises a whole heap of questions. Imagine, if you will, that some people literally change their sex on the basis of incomplete information! How they feel about their sex after they know they’re XXY appears to change. Then they have to make up stories as to why they didn’t express such feelings BEFORE they knew. Absolutely ALL of them do it. This is the power of the human mind at work, not the power of genetics. Because of their limited knowledge they become intersex, from male, then convince themselves sometimes that their gross misunderstanding literally changes their sex. Absolutely amazing stuff!

Did you know if there wasn’t X inactivation the entire human species wouldn’t be here? It’s all about gene expressions. There is a such a thing as a ‘lethal dose.’ So if we all had all that additional X genetic material floating around inside our cells, just buggering up the system, all X chromatin positive females, and all XXY males would be severely mentally retarded at the very least. Most likely the overdose of X genes would be lethal!

Curiously I read one time that 50% of XXY pregnancies end in spontaneous abortion. I wonder if there’s a link? I wonder if it is possible for the X inactivation process to not work at all, and the bundle of cells that was a the zygote, the developed into an embryo, just couldn’t handle all that additional X genetic material and self destructed? For those XXY men out there who still think they have an entire additional X functioning in all their cells, this can be the only possible result if it were true.

Many of these men write their karyotype as XXy. They imply they do have 2 complete X’s functioning by that method. They also imply all X chromatin positive females also have 2 complete X’s functioning. If they were going to be true to gene expression they ought to type xXY as their little spoken of Y chromosome has a great deal more genetic material fully functioning, than the few genes that are known to function, and are theorised to function on the inactivated X. So really we shouldn’t say we XXY males have an ‘additional X’ we should say we have an ‘inactivated X.’ From my way of thinking that would be true to genetic reality, and from their way of thinking that would make them more like females! 🙂

The advancement in genetics, and published results from longitudinal studies, puts to rest the theories of earlier researchers into Klinefelter’s syndrome regarding what sex we are. In Mr Noble’s ‘unpublished’ (and really should remain so) document he explores comments by early researchers that XXY males are more like females with an additional Y. This theory is based on the physical characteristics of the symptoms of disease. Symptoms of disease most XXY males do not develop, and certainly do not have prior to puberty. XXY boys prior to puberty do not look like girls. If they did they’d be dead easy to find at puberty as all those originally thought of as girl children would suddenly grow male genitalia and have balls to palpate!

Mr Noble also explores an idea that Klinefelter’s syndrome does exist prior to puberty by quoting some unknown to myself researcher who postulates that “if hypogonadism were present in prepubertal XXY boys….” but set it to rest now, there is no hypogonadism. XXY boys produce testosterone from their testes, like XY boys do.

The extra height sometimes associated with men with Klinefelter’s syndrome, due to late epiphyseal closure, is also noted in XXY boys, and XXX girls, and XYY boys. By some means or other, not fully understood, additional X genetic material, and additional Y genetic material, causes extra leg growth in both males and females. BUT males and females who have Kallmann syndrome do not have additional X or Y genetic material, and do not have a feature of their disease increased linear growth in childhood, and they are hypogonadal in childhood, even in the womb!

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XXY Conclusions

47XXX Growth

47XYY Growth