are genotypes and phenotypes always related together?

[Cymel]

I was viewing some maps about geographical distributions of haplogroups and genetic distances, and I' ve noticed that often populations who live in distant countries have the same haplogroup though their look is completly different. Why?

[Ibericus]

Because haplogroups are not related with phenotype. It's in your autosomal dna.

[Agrippa]

Because haplogroups are not related with phenotype. It's in your autosomal dna.

That's not entirely correct, as USUALLY haplogroup FREQUENCIES have a correlation with phenotypes - but the really determining factor is obvioiusly mostly autosomal.

Also, the haplogroups are often quite old, while some phenotypical and racial changes are pretty young in comparison and there are different factors in population genetics which can either change haplogroup frequencies as well as phenotypical variants distribution.

[Ibericus]

That's not entirely correct, as USUALLY haplogroup FREQUENCIES have a correlation with phenotypes - but the really determining factor is obvioiusly mostly autosomal.

Also, the haplogroups are often quite old, while some phenotypical and racial changes are pretty young in comparison and there are different factors in population genetics which can either change haplogroup frequencies as well as phenotypical variants distribution.
The genes responsible for phenotype are not your Y-chromosome. On an individual level, haplogroup doesn't tell you anything, you can be J2 and be blonde and blue-eyed in Europe.

[Agrippa]

The genes responsible for phenotype are not your Y-chromosome. On an individual level, haplogroup doesn't tell you anything, you can be J2 and be blonde and blue-eyed in Europe.

Sure, but that doesn't mean your mitochondrial or yDNA doesn't influence your phenotype at all.

It is just quite unlikely to impossible that they influence THAT phenotypical traits, but probably others.

[Scrapple]

Sure, but that doesn't mean your mitochondrial or yDNA doesn't influence your phenotype at all.

It is just quite unlikely to impossible that they influence THAT phenotypical traits, but probably others.

mtDNA doesn't have any influence on ones phenotype, it is only the DNA coding for the mitochondria. Mitochondria's main purpose is to power cells and regulate cell growth. It is not even located with the other chromosomes in the cell's nucleus. Yes it can be used to show likely geographical origins and ethnic ancestry from which you can deduce phenotype but mtDNA in itself has no effect upon one's phenotype.

[Agrippa]

mtDNA doesn't have any influence on ones phenotype, it is only the DNA coding for the mitochondria. Mitochondria's main purpose is to power cells and regulate cell growth. It is not even located with the other chromosomes in the cell's nucleus. Yes it can be used to show likely geographical origins and ethnic ancestry from which you can deduce phenotype but mtDNA in itself has no effect upon one's phenotype.

That is not true, because different variants of the mtDNA can result in specific phenotypical qualities and defects.

The pathological consequences of degenerated mitochondria make that clear:


Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that are the "powerhouses".


In addition to the mitochondrial myopathies, other examples include:

Diabetes mellitus and deafness (DAD)
this combination at an early age can be due to mitochondrial disease
Diabetes mellitus and deafness can also be found together for other reasons
Leber's hereditary optic neuropathy (LHON)
visual loss beginning in young adulthood
eye disorder characterized by progressive loss of central vision due to degeneration of the optic nerves and retina
Wolff-Parkinson-White syndrome
multiple sclerosis-type disease
affects 1 in 50,000 people in Finland
Leigh syndrome, subacute sclerosing encephalopathy
after normal development the disease usually begins late in the first year of life, although onset may occur in adulthood
a rapid decline in function occurs and is marked by seizures, altered states of consciousness, dementia, ventilatory failure
Neuropathy, ataxia, retinitis pigmentosa, and ptosis (NARP)
progressive symptoms as described in the acronym
dementia
Myoneurogenic gastrointestinal encephalopathy (MNGIE)
gastrointestinal pseudo-obstruction
neuropathy
Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
progressive myoclonic epilepsy
"Ragged Red Fibers" – clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "Ragged Red Fibers" when muscle is stained with modified Gömöri trichrome stain
short stature
hearing loss
lactic acidosis
exercise intolerance
Mitochondrial myopathy, encephalomyopathy, lactic acidosis, stroke-like symptoms (MELAS)
mtDNA depletion
mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Nota bene: Conditions such as Friedreich's ataxia can affect the mitochondria, but are not associated with mitochondrial proteins.



http://en.wikipedia.org/wiki/Mitochondrial_disease

Also compare:
http://www.eupedia.com/forum/showthread.php?24801-Medical-conditions-and-risk-factors-associated-with-mtDNA-haplogroups

So there is also a phenotypical variation based on more or less normal mtDNA variants, with real and partly quite serious consquences for the carriers in specific situations.

[Scrapple]

That is not true, because different variants of the mtDNA can result in specific phenotypical qualities and defects.

The pathological consequences of degenerated mitochondria make that clear:

http://en.wikipedia.org/wiki/Mitochondrial_disease

Also compare:
http://www.eupedia.com/forum/showthread.php?24801-Medical-conditions-and-risk-factors-associated-with-mtDNA-haplogroups

So there is also a phenotypical variation based on more or less normal mtDNA variants, with real and partly quite serious consquences for the carriers in specific situations.

I guess I have a narrower conception of phenotype, that doesn't make you wrong of course nor my conception correct. But I understand where you are coming from and your explanation makes sense.

[Frederick]

I guess I have a narrower conception of phenotype, that doesn't make you wrong of course nor my conception correct. But I understand where you are coming from and your explanation makes sense.

I too have a narrower conception of "Phenotype".

And its not that R1b makes you "Atlantid" and I1 makes you "Nordid" while I2b makes you "Faelid" or "Borreby" and R1a makes you "Baltid" or I2a making you Dinarid. J isnt turning you "arabid" or whatever.

[Sicilianu101]

That is not true, because different variants of the mtDNA can result in specific phenotypical qualities and defects.

The pathological consequences of degenerated mitochondria make that clear:





http://en.wikipedia.org/wiki/Mitochondrial_disease

Also compare:
http://www.eupedia.com/forum/showthread.php?24801-Medical-conditions-and-risk-factors-associated-with-mtDNA-haplogroups

So there is also a phenotypical variation based on more or less normal mtDNA variants, with real and partly quite serious consquences for the carriers in specific situations.

This is very true. I don't think some people really understand what Phenotype means. Your external racial characteristics and characteristics affecting your appearance are just one small fraction of your Phenotype.. Phenotype is any quality that an individual experiences as a result of the particular variant (allele) of a gene that they possess. For instance, phenotype can include having a smaller or larger liver, more or less red blood cells, etc. Phenotype is not simply blue eyes vs. brown eyes, etc.

[Frederick]

This is very true. I don't think some people really understand what Phenotype means. Your external racial characteristics and characteristics affecting your appearance are just one small fraction of your Phenotype.. Phenotype is any quality that an individual experiences as a result of the particular variant (allele) of a gene that they possess. For instance, phenotype can include having a smaller or larger liver, more or less red blood cells, etc. Phenotype is not simply blue eyes vs. brown eyes, etc.

yes.
Then again the Y-DNA and mtDNA is a super tiny fraction of the whole DNA.

So, even IF it contributes to ones Phenotype, it contributes about 1% to ones Phenotype while aDNA contributes 99% to ones phenotype.

So maybe your phenotype bases... *guess*
1% Y-DNA and mtDNA
80% aDNA
19% envoirement

[Frederick]

of course we could only be sure if we make some experiements with humans.

Clone humans and exchange their Y-DNA and mtDNA but leave them all with identical aDNA.

And then check how different they will become.

[Sicilianu101]

yes.
Then again the Y-DNA and mtDNA is a super tiny fraction of the whole DNA.

So, even IF it contributes to ones Phenotype, it contributes about 1% to ones Phenotype while aDNA contributes 99% to ones phenotype.

I agree, but Y-DNA and mtDNA do not affect traits which effect our external appearances.. However, like some have said earlier, there can be a correlation between them and phenotype. Human history, migration, and mixing is much more complex than this but let me give you a simple explanation to prove my point..

There is a population A, population B, and population C. They are all "pure" in both their genetic variations and phenotypes and are completely different from each other (this is very mythical..) This means that if you sequence a piece of DNA from one of these populations or from any populations derived from these, you can track which population it came from.

Some Males of population 1 somehow infiltrate into an isolated group of population 2 individuals (bring new technology, war, etc.). They contribute their yDNA to their male offspring but also autosomal genes which effect external phenotypes. Over time this new population has inbred within itself and has 30% yDNA markers coming from population 2, 70% yDNA coming from population 1 and 100% mtDNA markers coming from population 1.

If you looked simply at the yDNA frequency you would think that they are 30% population b.. No! 1st of all frequencies of yDNA can change depending on population shifts. For instance, population B males might have contributed 10% or 50% to the 1st generation of males from this pairing, but then overtime, if the population gets smaller because of famine or disease the numbers can fluctuate up or down randomly (like throwing a coin). On the other hand, if external phenotypes are not being selected for or against in the environment, they might stay relatively consistent.

In this case (let's say that the population 2 male's impact was actually 30% to the population from the male side), this would be a total of 15% ancestry in autosomal DNA from pop.2. Now, if the yDNA frequency stays at around 30% you can make a correlation between let's say the difference in phenotype between a still pure population of population 1 and this admixed version of population 1 because the 30% yDNA correlates directly to a 15% autosomal contributions from population 2 in this population.

As mentioned before, because of population shifts, there is usually a shift upwards or downwards of a haplogroup. So if the the contribution from the male side is still 30% but the yDNA marker has shifted upwards randomly to 50% in the population, you might conclude that the males contributed 25% autosomal DNA when they only contributed 15%. In a similar way, you can underestimate the autosomal contribution of these males if you deduce from a 10% frequency of yDNA markers that their contribution was 5%..

Just to demonstrate another element of complexity assume there is this new admixed population described previously (composed of 30%yDNA pop2, 70% yDNA pop1, and 100% mtDNA pop1, with an autosomal contribution of 15% from pop. 2 and 85% pop 1). A group of males from a population 3 wipes out all the males (except for a few) and has children with the females of this admixed population. The few males left from before all happen to have yDNA markers from population 1.

What does this mean? Even though there is no longer a yDNA contribution (and there never was a mtDNA contribution) from population 2 in this new population, there is still an autosomal contribution. If the males from pop. 3 to make it simple were the only males to breed with the females and the population stayed pretty constant, there would be 100% yDNA from pop3 and 100% mtDNA from pop1. However, at the autosomal level there would still be (1/2) x (15%)= 7.5% contribution from pop2, even though nothing is detected at the yDNA and mtDNA levels. So the new population would be autosomally 7.5% pop 2, 42.5% pop1, and 50% pop3.

Sorry for making this such a long lecture, but I hope I got across that yDNA and mtDNA can correlate with autosomal DNA (including genes which effect phenotype) but this is extremely complicated and depends on the specific demographic changes within and between populations. & it is a 1000000 times more complex process then how I described with pop 1, 2, and 3.

[Frederick]

I know how these things work Sici ;)

But the topic here is not:
Does I1 bring Nordid aDNA into the genpool of a population but rather, do you need to carry I1 to show Nordid phenotypes. And is an I1 Y-Chromosome needed to show Nordid phenotype in it full completeness (cancer rates and all) or can an R1b be equally "Nordid" because he inheritated the aDNA that the original I1 men brought to a genpool?

And aggrippa suggests that things like "having the risk of cancer increased by 3%" that may be caused by a defect on the Y-DNA belongs to a phenotype aswell.

(just picked Nordid and I1, because "Nordid" is a quiet famous phenotype and its distribution ressembles roughly the distribution of I1.

[Agrippa]

If you have a lower sperm motility, probably even a slightly different sexual type because of yDNA and mtDNA, to give an example, sure that is part of your phenotype and not that unimportant at all.

Yet for racial typology in the narrower sense, haplogroups are largely unimportant other than for comparing genetic influences and population make up - like some sort of background information, signature.

But then we should speak of the racial phenotype (type), not phenotype in general. (And if really the sexual type being also influenced by yDNA and mtDNA, what some might suggest, it would actually influence your racial phenotype in a way too - so the last word isn't spoken so far, not even about that)

[Libertas]

If you have a lower sperm motility, probably even a slightly different sexual type because of yDNA and mtDNA, to give an example, sure that is part of your phenotype and not that unimportant at all.

Yet for racial typology in the narrower sense, haplogroups are largely unimportant other than for comparing genetic influences and population make up - like some sort of background information, signature.

But then we should speak of the racial phenotype (type), not phenotype in general. (And if really the sexual type being also influenced by yDNA and mtDNA, what some might suggest, it would actually influence your racial phenotype in a way too - so the last word isn't spoken so far, not even about that)

I agree.

Too many are obsessed with amateur geneticists behind Eurogenes and Dodecad.

[El Palleter]

So maybe your phenotype bases... *guess*
1% Y-DNA and mtDNA
80% aDNA
19% envoirementOnly 1% for allosomal dna?

That's a funny thing to say, when sex differences are the most noticeable traits of phenotype.

Also, environment (mostly, but also other external agents) is what affects autosomal dna for mutations. It's not an item more.

Unless you mean, for an extreme example, two twin brothers one raised in open spaces in a sunny area, and living on fruits, vegetables and fresh meat and fish, and the other raised and living in a cave rarely seeing the sun light, and living on roots and canned processed food.

[Frederick]

Only 1% for allosomal dna?

Yeah.

What do Atlantides and Alpines have in common? They share the same Y-DNA. (R1b)

I think you all are inferior to me.