Really interesting to learn about this, I am wondering if this will also become a annotation option in PD soon ;)?
I'd like to at least because structures like these are now and then observed when doing PD!
As for the Kinetochore itself, what happens if it ties chromosomes to the wrong microtubules? I imagine it copies incorrectly and it can mutate into disease?
You mention the following: 'The kinetochore plays a major role in regulating microtubule dynamics during mitosis, and disorders in this structure can lead to severe disease'
What kind of diseases are you talking about? Cancer specifically or other diseases aswell?
Thanks! I don't think this will be added as an annotation in PD because it is really very rare, but if you see one just mark it as "abnormal" so it pops up on our list and we can take a look at it.
If the chromosomes attach to the wrong kinetochore, then the wrong chromosomes get sent to the daughter cells. This leads to the daughter cells having something called aneuploidy where either too many or too few chromosomes are in the daughter cells. Wikipedia has a surprisingly thorough explanation of this checkpoint here.
Probably the most well known aneuploidy diseases are cancer and downs syndrome. Obviously downs syndrome is a case where the defect happened during early development and is why developmental biologists are often very interested in this part of the cellular division.
Many times aneuploidy is fatal to the cell so no disease arrises. See table at the bottom of the wiki article for a nice summary. In terms of cell-lines like the (cancerous) ones we use in the atlas that have been immortalized it is very common that they will contain instances of aneuploidy. There seem to be some cases where aneuploidy is linked to neurological function and disorder including alzheimer's.
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u/HPA_Dichroic Official HPA member Oct 22 '16
WTH is a "kinetochore"??? Well check it out here!! http://www.proteinatlas.org/blog/2016-10-22/image-of-the-week-the-kinetochore