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Krefter
12-28-2015, 12:13 AM
About 20 years ago it was discovered that a handful of mutations in the MC1R can explain most Red hair. These mutations were called RHCs. However, no one discovered a single mutation which most Redheads share, if RHCs belong to haplotypes, and what the origins of those haplotypes are. This week I discovered a single mutation most Redheads share, discovered the primary RHCs belong to haplotypes, and the origin of those haplotypes.

Single Red Hair Mutation


Chromsome: 16
Gene: AFG3L1P
SNP: rs9939542
Position: 90053048
Alleles(Ancestral/Derived): C/A
Red hair Allele: C

The vast majority of Redheads have a C allele in this SNP and the majority have CC. Very very very few non-Red haired Europeans have CC. rs9939542 itself does not cause Red hair. The reason rs9939542 is linked with Red hair is because it is apart of a haplotype with Red hair variant(RHC) R151C(rs1805007 T) and Red hair variant(RHC) R160W(rs1805008 T). Many Non-Europeans have a C allele and many have CC. This is mostly because many belong to haplotypes related to the haplotypes R160W(rs1805008 T) and R151C(rs1805007 T) belong to. I explain this more in the next section.

Red Hair is the Result of the Combination of Many Haplotypes
7079

By looking at SNPs in the 16 Chromsome which are near SNPs rs1805007 and rs1805008, I discovered R151C(rs1805007 T) and R160W(rs1805008 T) are apart of large haplotypes which include many SNPs. By looking at the calls non-Europeans get in those SNPs, I discovered that the haplotypes R151C(rs1805007 T) and R160W(rs1805008 T) belong to are a combination of haplotypes common all over the world. I call these haplotypes "Pre-Red hair Haplotypes"I illustrate it in this spreadsheet: Evolution of Red hair (https://docs.google.com/spreadsheets/d/1yFEFM10voF1NTIHfkcR4h_8lKp8LJCmcP8sQxc2T-SQ/edit#gid=2009213555).

I investigated the frequencies of pre-Red hair haplotypes in HGDP populations of R160W. Here's a brief description.

[B]Africa: Essentially all Africans have H1 or H3. It is practically impossible to find one who has H2, H5, H6, or the Red hair version. I did find one African(Kenya) who had H5.
East Asia: Many have H1 and few have H3. It is practically impossible to find one who has H2, H5, H6, or the Red hair version. I did find one East Asian(China) who had H5.
South Asia: Many have H1 and H3. And unlike Africans and East Asians, a significant amount have H3. It is not rare for South Asians to have a combination of H1, H3, H2. The reason some have a combination of H1, H3, and H2 is probably because very close relatives of H5 and the Red hair version exist in South Asia. And also some but very few(~0.5-1%) have the Red hair version.
Europe: Many have H1, H3, H2, and the Red hair version. It is not uncommon for a combination of H1, H2, H3 to exist, but it is uncommon to find H5.

Outside of Europe the only place there's close relatives of the R160W haplotype and the actual R160W haplotype is in South Asia. I haven't investigated R151C haplotype frequencies, although outside of Europe the only place the R151C haplotype exists is South Asia. The pattern makes sense when you consider genetics. Essentially all of European's and East Asian's ancestors separated 45,000+ years ago, and for Africans even longer ago. On the other hand South Asians and Europeans have lots of common ancestry in the last 30,000 and even 15,000 years(CHG).

I haven't discovered the origins of Red hair but I've discovered how Red hair(or at least the two many variants) came about. It's a combination of multiple haplotypes in Chromsome 16. Mutations pilled up and as the number of mutations became bigger and bigger, the end result was Red hair.

Tolan
12-28-2015, 01:47 AM
I'm not sure if I understood everything!
Here my variants (reds dots),
Some variants are not tested on 23andme or FTDNA..
I have brown hair

http://gen3553.pagesperso-orange.fr/images/redhair.png

Krefter
12-28-2015, 01:54 AM
I'm not sure if I understood everything!
Here my variants (reds dots),
Some variants are not tested on 23andme or FTDNA..
I have brown hair

http://gen3553.pagesperso-orange.fr/images/redhair.png

You have R151C(You're derived in every SNP tested) and you don't have R160W. It looks like you belong to H1(One of the haplotypes that makeup the haplotype R160W is in) or at least something related. Having one copy of R160W or R151C makes you a carrier and having two copies means there's a 90%+ chance you have Red hair. You have one copy so you're a carrier.

Tolan
12-28-2015, 02:23 AM
You have R151C(You're derived in every SNP tested) and you don't have R160W. It looks like you belong to H1(One of the haplotypes that makeup the haplotype R160W is in) or at least something related. Having one copy of R160W or R151C makes you a carrier and having two copies means there's a 90%+ chance you have Red hair. You have one copy so you're a carrier.

Many thanks!
Do R151C is more common than R160W ?

Another question:
in R151C, i am AG CA GC TC CC.
Does it mean that I inherited from one of my parents a segment completely " red hair "?
ie A C G T C
And from of my other parent, a segment (almost) completely not red hair?:
ie: G A C C C

Krefter
12-28-2015, 02:34 AM
Many thanks!
Do R151C is more common than R160W ?

Another question:
in R151C, i am AG CA GC TC CC.
Does it mean that I inherited from one of my parents a segment completely " red hair "?
ie A C G T C
And from of my other parent, a segment (almost) completely not red hair?:
ie: G A C C C

R151C and R160W are about equal in frequency. 15-20% on average in France have on or the other. I'm pretty sure haplotypes are passed down from one parent: Haplotypes (https://en.wikipedia.org/wiki/Haplotype).

surbakhunWeesste
12-28-2015, 04:02 AM
No SNPs matching 'rs9939542' found in the data from your chip.

Cool stuff, I am going to check for more SNPs.

surbakhunWeesste
12-28-2015, 04:30 AM
Oh well, bummer.

http://i.imgur.com/h7tvqHc.png

Krefter
12-28-2015, 05:39 AM
Oh well, bummer.

http://i.imgur.com/h7tvqHc.png

Most people belong to one of these haplotypes. Looks like you belong to a haplotype in both. Your minor alleles in rs3212361(A)+rs9936896(C)+rs4238833(G) are on the same side. There's a good chance you have H3(one of the haplotypes that makeup R160W). The vast majority of South Asians with a derived allele in rs4238833 have H3 or H1. Your minor alleles in rs12931267(G)+rs8049897(A) are on the same side which probably isn't a coincidence. You definitely belong to a pre-R151C haplotype. Are you th Pashuten with Red hair?

psaglav
12-28-2015, 07:48 AM
Krefter, which ones should I be looking for? I'd posted in another thread of yours. I *think* I'm a carrier but am not sure.

surbakhunWeesste
12-28-2015, 09:43 AM
Are you th Pashtun with Red hair?

Yeah.

psaglav
12-28-2015, 10:10 AM
Yeah.

Something like this? 7085

Krefter
12-28-2015, 10:44 AM
Yeah.

I think that could be why you have rs12931267(G). All South Asians with it on HGDP also have s1805007(T). Very few, less than 1% overall have rs12931267(G). It can't be a coincidence you have it. Usually Red hair is the result of two mutations inherited from each parent. I have one from my Dad and one from my Mom. So, chances are you have another mutation. What is your call in these SNPs(I think I recall you have one of them).

rs1805006
i3002507
rs11547464
rs1110400
rs3212379
rs3212358

surbakhunWeesste
12-28-2015, 03:01 PM
Something like this? 7085

Mine is copper red, but I have had few people tell me that it looked blond(strawberry red, prolly the lighting, heat damaged hair.

http://i.imgur.com/pz7navA.jpg


I think that could be why you have rs12931267(G). All South Asians with it on HGDP also have s1805007(T). Very few, less than 1% overall have rs12931267(G). It can't be a coincidence you have it. (What is your call in these SNPs(I think I recall you have one of them)

rs1805006
i3002507
rs11547464
rs1110400
rs3212379
rs3212358


rs1805006 CC
i3002507 GG
rs11547464GG
rs1110400 CT
rs3212379CC
rs3212358 AG


Usually Red hair is the result of two mutations inherited from each parent. I have one from my Dad and one from my Mom. So, chances are you have another mutation.

Family:
Dad: Light Brown
Mum: Jet Black
Paternal Grandpa: Auburn
Paternal Grandma: Auburn
Maternal Grandpa: Light Brown
Maternal Grandma: Red

I have quite a few head heads in my family, esp. my maternal side.

ADW_1981
12-30-2015, 04:50 PM
Mine is copper red, but I have had few people tell me that it looked blond(strawberry red, prolly the lighting, heat damaged hair.

http://i.imgur.com/pz7navA.jpg




rs1805006 CC
i3002507 GG
rs11547464GG
rs1110400 CT
rs3212379CC
rs3212358 AG



Family:
Dad: Light Brown
Mum: Jet Black
Paternal Grandpa: Auburn
Paternal Grandma: Auburn
Maternal Grandpa: Light Brown
Maternal Grandma: Red

I have quite a few head heads in my family, esp. my maternal side.

You have my sister's hair colour. Mine has gone a little more brown (than yours) as I've aged.

Amerijoe
03-05-2016, 05:20 PM
I still hear echoes of 'Red on the Head', you know the rest. New to the site, trying to grasp the multitude of diverse information. I'm still unsure how my snps fit into this hypothesis since there were a few ng and no snp.

rs1805006CC rs321361GG
rs1805007TT. rs996896TT
rs1805008CC. rs4238833GG
rs11547464GG. rs12931267GG
rs1110400TT rs8049897AA
rs3212379CC. rs1805007TT
rs3212358AA

Also R163Q rs885479GG

rms2
03-07-2016, 06:59 PM
I still hear echoes of 'Red on the Head', you know the rest
. . .
rs1805007TT . . .

Well, you carry two copies of the red hair variant Arg151Cys (rs1805007TT), since T is the risk allele there.

That might explain those echoes, since you should have some shade of red hair.