Clarification that you HAVE TO KNOW In Prader-Willis, Know that the maternal copy of this gene in chromosome 15 involved here is what is NORMALLY imprinted (Inactive) by methylation. ONLY the paternal copy of the this gene is active/utilized NORMALLY. Thus, there can be 3 different causes of Prader-Willis: 1) Loss of the paternal copy of the gene 2) Uniparental maternal disomy (Either Hetero or Iso) because now both of the genes will be imprinted/inactive 3) Translocation that replaces the needed segment of the paternal gene in ch 15 with a different gene. In Angelman, Same mechanism as Prader-Willis. Just opposite. Paternal copy is NORMALLY imprinted. Loss of maternal copy of the gene will lead to this disease.
A super quick recap for the exam: Prader-Willis: 1. Mum side inactive. 2. Father side is missing/defective. Angelman: 1. Mum's side is missing/defective. 2. Dad's side is inactive. mnemonic: PIMAMI or PIDADI P = Prader I = Inactive M = missing/defective A = Angelman M = Missing/defective I = Inactive Prader-Willis Special Case: 1. Uniparental maternal disomy = causing both genes to be imprinted/inactive. 2. Translocation = replaces segment of the paternal gene in ch 15 with a different gene.
Awesome video you can also remember chromosome no from their name As both names have a and e in them and a is the 1st letter so 1 and e is the 5 th letter so 5 combine them together and u get chromosome 15
Thanks for this. Btw, have some of your videos been deleted? I feel like you had way more videos a month ago. For example, my favorite video on enzyme kinetics (with Km for cock and Vmax for vagina) is missing.
How do they determine which chromosome came from which parent? Doesn't both autosomal chromatids look exactly the same? So when they were determining the causes of Angelman's and Prader-Villi how did they know that it was the maternal or paternal chromosome that had the deletion?
@@AiLuvROCK hey thanks for answering. when you say "they don't look the same" are you referring to the autosomal chromotids? because that's what I mean. Do chromotids from a specific parent look a particular way or have hallmark genes? How in a laboratory setting did they realise that it was the mutation on the maternal strand that caused Angelman's when the chromotids essentially look the same?
@@smol_chilli_pepper Np. So yes, the chromosome from the mother looks different than from the father because they are imprinted in a different way. This means that some parts are inactivated by DNA methylation. So in the case of Angelman syndrome, a part of maternal chromosome 15 is lost, either by deletion or by inheritance of 2 paternal chromosomes. On the paternal chromosome this part is imprinted (=methylated). So you have no expression of this part of the gene. Does this help?
Imprinting by definition is methylation. Of course there are exceptions, but it is true in these two diseases. He did not clarify the imprinting & mechanism of these two diseases very well, but nothing he said was inaccurate. In PW, Maternal copy of the gene is imprinted NORMALLY, and that is why loss of paternal gene causes this disease. In Angelman, Paternal copy of the gene is imprinted NORMALLY, and the loss of maternal gene causes the disease. For example, these are the 3 different mechanisms that can cause loss of paternal gene and cause PW. 1) Loss of function mutation of the paternal copy (~70%) 2) Uniparental maternal disomy (~25%) 3) Translocation of the needed segment of the paternal gene with a different gene. So in a strict sense, Imprinting is the more important factor in these diseases. Disomy is just one of the various mechanisms that can cause these diseases.
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Clarification that you HAVE TO KNOW
In Prader-Willis,
Know that the maternal copy of this gene in chromosome 15 involved here is what is NORMALLY imprinted (Inactive) by methylation.
ONLY the paternal copy of the this gene is active/utilized NORMALLY.
Thus, there can be 3 different causes of Prader-Willis:
1) Loss of the paternal copy of the gene
2) Uniparental maternal disomy (Either Hetero or Iso) because now both of the genes will be imprinted/inactive
3) Translocation that replaces the needed segment of the paternal gene in ch 15 with a different gene.
In Angelman,
Same mechanism as Prader-Willis. Just opposite.
Paternal copy is NORMALLY imprinted.
Loss of maternal copy of the gene will lead to this disease.
Thank you!!
I'm agree
Everytime i learn about imprinting i completely forget it two weeks later
lmao so true omg
Easy topic ,
That is incredibly accurate
Watching this an hour before exam. You never know how you're changing the world 🥰
In Chandler Bing’s voice “could it beeee any simpler?” Great video
A super quick recap for the exam:
Prader-Willis:
1. Mum side inactive.
2. Father side is missing/defective.
Angelman:
1. Mum's side is missing/defective.
2. Dad's side is inactive.
mnemonic:
PIMAMI or PIDADI
P = Prader
I = Inactive
M = missing/defective
A = Angelman
M = Missing/defective
I = Inactive
Prader-Willis Special Case:
1. Uniparental maternal disomy = causing both genes to be imprinted/inactive.
2. Translocation = replaces segment of the paternal gene in ch 15 with a different gene.
Very helpful, thanks
Awesome video you can also remember chromosome no from their name
As both names have a and e in them and a is the 1st letter so 1 and e is the 5 th letter so 5 combine them together and u get chromosome 15
angel-man (a is the 1st letter but e is the 4th letter bro)
@@samik3184 ABCDE, check your alphabet bro
prader vader made me crack up pretty good lol
Darth Vader Willi looks like Peter Griffin wearing a Darth Vader costume for Halloween! 😳
Thank you for this :) Getting ready for my pediatrics exam next week
Just made the clinicals easier, thanks!
Absent mommy's llttle angel; Darth Prader seeks his missing father (i know it isn't canon, but it works)
Dirty we need more videos on genetics please upload as soon as possible.!!!
Very easy to way deliver nice concepts ❤
LOVED IT! thnx... greetings from MEXICO
Thank You for Your great work
Can you please make a vid on ABO blood typing and rhesus system? confusing af
Apparently Beckwith-Wiedemann Syndrome can also be an imprinting disorder, in case this comes up.
superb very short and productive
Thanks for this. Btw, have some of your videos been deleted? I feel like you had way more videos a month ago. For example, my favorite video on enzyme kinetics (with Km for cock and Vmax for vagina) is missing.
Dirty little mind lol
great work, keep it up!! I love this
Could you explain why the deletion in the father's chromosome causes another syndrome than the deletion in the mother's chromosome?
you are too good, thank you
Thank you
Well this is a cool video. My son FMFX and I assume he has a subtype of PWS.
Im literally having the HARDEST time trying to determine a paternally imprinted pedigree from a maternally imprinted pedigree
Thanks!
perfect thank you
How do they determine which chromosome came from which parent? Doesn't both autosomal chromatids look exactly the same? So when they were determining the causes of Angelman's and Prader-Villi how did they know that it was the maternal or paternal chromosome that had the deletion?
They don't look exactly the same because of the parent-of-origin-specific imprinting. I think that's how they found out.
@@AiLuvROCK hey thanks for answering. when you say "they don't look the same" are you referring to the autosomal chromotids? because that's what I mean. Do chromotids from a specific parent look a particular way or have hallmark genes? How in a laboratory setting did they realise that it was the mutation on the maternal strand that caused Angelman's when the chromotids essentially look the same?
@@smol_chilli_pepper Np. So yes, the chromosome from the mother looks different than from the father because they are imprinted in a different way. This means that some parts are inactivated by DNA methylation. So in the case of Angelman syndrome, a part of maternal chromosome 15 is lost, either by deletion or by inheritance of 2 paternal chromosomes. On the paternal chromosome this part is imprinted (=methylated). So you have no expression of this part of the gene. Does this help?
X is paternal and y is maternal
@@AiLuvROCK in angelmann is paternal or maternal is imprinted
more vids bro!! youre a big help
and he has a small willi hypogonaldism
So how many total of chromosomes and autosomes does angelMan and Prader-Willi have??
Thank u.
cant see his willi
🤣😂
MAterNal forms the word MAN, in AngelMAN 😊
God bless you, Dirty
Thanks sir! ❤️
GOD BLESS YOU!!!!!!!!
Which is imprinted vs. Methylated
❤❤❤
nice explanation
thank you soooo muc forthis
Thanks a lot this is really helpful ^_^
WHERE THE HECK IS ALL YOUR VIDEOS AND YOUR FACEBOOK PAGE???????????????????????????????????
and nothing can be done, right? Sad. Poor kids.
Genomic imprinting an Gene changing through psychedelics
can u please video on milestones in pediatrics
we already have one
Vader wili omg 🤣
Alguien que hable español castellano
Prader willi causes because of maternal copy is turned off.
Sorry dirty this one wasnt good. Everything imprinted is not methylated. There is disomy too.
Imprinting by definition is methylation.
Of course there are exceptions, but it is true in these two diseases.
He did not clarify the imprinting & mechanism of these two diseases very well, but nothing he said was inaccurate.
In PW, Maternal copy of the gene is imprinted NORMALLY, and that is why loss of paternal gene causes this disease.
In Angelman, Paternal copy of the gene is imprinted NORMALLY, and the loss of maternal gene causes the disease.
For example, these are the 3 different mechanisms that can cause loss of paternal gene and cause PW.
1) Loss of function mutation of the paternal copy (~70%)
2) Uniparental maternal disomy (~25%)
3) Translocation of the needed segment of the paternal gene with a different gene.
So in a strict sense, Imprinting is the more important factor in these diseases.
Disomy is just one of the various mechanisms that can cause these diseases.
Thank you