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DMXX
01-30-2015, 11:00 PM
Following on from J Man's blonde hair (http://www.anthrogenica.com/showthread.php?3767-Your-23andme-Blonde-Hair-Results-HERC2-KITLG-and-SLC24A4) and rms2's Britain's DNA Red Head Test Results (http://www.anthrogenica.com/showthread.php?3631-Britain-s-DNA-Red-Head-Test-Results-Post-Them-Here-Please) threads, it seemed intuitive to extend the discussion into 23andMe's recent report on red hair (https://www.23andme.com/you/journal/red_hair/overview/).

It is commonly accepted that red hair is largely the result of a mutation on the MC1R gene (please see 23andMe's report for more info). A number of SNPs are encoded within MC1R. I recently revisited S Walsh's DNA Phenotyping: The prediction of human pigmentation traits from genetic data (2013), which presents a compendium of current work on genotype variation with respect to human pigmentation. Within it, 11 SNPs within MC1R are plotted with respect to ancestral (non-red) and derived (red) allele variants across the HGDP reference populations(Figures 3 and 4, attached below). A rough description of these findings for those not logged in can also be found below.

23andMe's report only lists three SNPs (rs1805007, rs1805008, i3002507), clearly giving it diminished predictive power. Based on the data presented in Walsh's DNA Phenotyping, I've collated those MC1R loci. I don't know which of these SNPs are found in different FTDNA/23andMe chips, so all are listed irrespective.

Feel free to include yourself in the table by simply quoting the latest post with it and entering the data as appropriate. Have fun folks, hope this makes up for 23andMe's report's inadequacies! (I'm missing 4 SNPs on v2, so I'm non-red for all the others).



MC1R loci Anc/Der DMXX
rs1805007 C/T CC
Y152OCH C/A --
rs111400 T/C --
rs1805009 G/C --
rs2228479 G/A GG
N29insA C/A --
rs885479 C/T GG
rs1805005 G/T GG
rs11547464 G/A GG
rs1805008 C/T CC
rs1805006 C/A CC
Phenotype b,
. No red beard hair
b Some red beard hair
B Predominantly red beard hair
x n/a - for females!
, No red head hair
h Some red head hair
H Predominantly red head hair





rs1805007(T) - Europe > South-Central Asia; absent elsewhere
Y152OCH(A) - Absent everywhere
rs111400(C) - Europe; absent elsewhere
rs1805009(C) - Europe > East-Central Asia (Uyghurs); absent elsewhere
rs2228479(A) - SE Asia > E Asia > Europe & South-Central Asia, absent elsewhere
N29insA(A) - Europe (Orcadian only); absent elsewhere
rs885479(T) - Americas + E Asia > South-Central Asia > Europe; absent elsewhere
rs1805005(T) - Europe > Near-East > South-Central Asia > East-Central Asia + South Africa
rs11547464(A) - Europe (Italy and North Russian only); absent elsewhere
rs1805008(T) - Europe > East-Central Asia (Uyghur) > Near-East > South-Central Asia; absent elsewhere
rs1805006(A) - Absent everywhere


3661366236633664

Krefter
01-31-2015, 12:56 AM
My phenotype. All my hair is red as far as I know. My father has the same red hair variants as me, but has dark brown hair.

This is the only variant I have.

rs1805008 C/T CT


No call in N29insA and Y152OCH.

AJL
01-31-2015, 02:14 AM
Two variants:

rs1805007:CC
rs2228479: GG
rs885479: GG
rs1805005: GT
rs11547464: GG
rs1805008:CT
rs1805006: CC

Predominantly red facial hair, slight red tinge to my hair when I was younger but it was more light brown than anything.

Krefter
01-31-2015, 02:36 AM
Two variants:

rs1805007:CC
rs2228479: GG
rs885479: GG
rs1805005: GT
rs11547464: GG
rs1805008:CT
rs1805006: CC

Predominantly red facial hair, slight red tinge to my hair when I was younger but it was more light brown than anything.

Do you get it from your Jewish side?

bored
01-31-2015, 03:55 AM
Results identical to yours. I don't have any red hair.



MC1R loci Anc/Der bored
rs1805007 C/T CC
Y152OCH C/A --
rs111400 T/C --
rs1805009 G/C --
rs2228479 G/A GG
N29insA C/A --
rs885479 C/T GG
rs1805005 G/T GG
rs11547464 G/A GG
rs1805008 C/T CC
rs1805006 C/A CC

parasar
01-31-2015, 04:22 AM
All ancestral homozygous:
rs1805007:CC
rs2228479: GG
rs885479: GG
rs1805005: GG
rs11547464: GG
rs1805008: CC
rs1805006: CC

kenji.aryan
01-31-2015, 04:32 AM
Mine

Positive at one variant




rs2228479 G/A AG











Neanderthal Origin of the Haplotypes Carrying the Functional Variant Val92Met(rs2228479) in the MC1R in Modern Humans

Abstract


Skin color is one of the most visible and important phenotypes of modern humans. Melanocyte-stimulating hormone and its receptor played an important role in regulating skin color. In this paper, we present evidence of Neanderthal introgression encompassing the melanocyte-stimulating hormone receptor gene MC1R. The haplotypes from Neanderthal introgression diverged with the Altai Neanderthal 103.3 KYA, which postdates the anatomically modern human – Neanderthal divergence. We further discovered that all of the putative Neanderthal introgressive haplotypes carry the Val92Met variant, a loss-of-function variant in MC1R that is associated with multiple dermatological traits including skin color and photoaging. Frequency of this Neanderthal introgression is low in Europeans (~5%), moderate in continental East Asians (~30%), and high in Taiwanese aborigines (60-70%). Since the putative Neanderthal introgressive haplotypes carry a loss-of-function variant that could alter the function of MC1R and is associated with multiple traits related to skin color, we speculate that the Neanderthal introgression may have played an important role in the local adaptation of Eurasians to sunlight intensity.
http://mbe.oxfordjournals.org/content/early/2014/06/02/molbev.msu180.abstract


SNpedia:


"rs2228479, known as Val92Met or V92M, is one of several SNPs in the MC1R gene commonly associated with red (or blond) hair and poor tanning, but note its high presence in one Asian population [PMID 7581459, PMID 16463023]
The risk allele is rs2228479(A), compared with the wild-type rs2228479(G) allele."
http://www.snpedia.com/index.php/Rs2228479
3672

AJL
01-31-2015, 06:23 PM
Do you get it from your Jewish side?

No. This is one of the few genes I've been able to trace to a long-ago ancestor. It comes from a McLean, from the Scottish Highlands.

slievenamon
01-31-2015, 06:52 PM
Some red head hair now

rs1110400 TT
rs2228479 AG
rs885479 GG
rs1805005 GG
rs1805008 CC
rs1805006 CC

Maternal Grandmother Auburn Austrian
Maternal Grandfather Redhead Magyar
Paternal Grandmother Auburn County Tipperary

rms2
01-31-2015, 10:12 PM
I don't have results from 23andMe, but I have the following from FTDNA's Family Finder:

rs1805008 C/T (also known as Arg160Trp and R160W)

I got the same result from BritainsDNA's Red Head Test, as well, so it's confirmed by two independent sources.

3680 3681

My dad also has CT at rs1805008 via Family Finder, and one of his older sisters, my Aunt Lois, had red hair. I'm currently waiting for my mom's Family Finder results.

VinceT
02-01-2015, 05:02 AM
Neither I, my paternal uncle, nor my maternal uncle apparently do not have any of the "red hair alleles" from MC1R, but here's a pic of my father when he was in high-school (and still had hair):

3688

rms2
02-01-2015, 11:29 AM
Neither I, my paternal uncle, nor my maternal uncle apparently do not have any of the "red hair alleles" from MC1R, but here's a pic of my father when he was in high-school (and still had hair):

3688

Nice photo. Your dad kind of looks like a redheaded Clark Kent.

"And who, disguised as Clark Kent, mild-mannered reporter for a great metropolitan newspaper, fights a never-ending battle for TRUTH,
JUSTICE and the AMERICAN WAY!"

Or the Canadian Way, in this case. :)

VinceT
02-01-2015, 10:11 PM
Nice photo. Your dad kind of looks like a redheaded Clark Kent.

"And who, disguised as Clark Kent, mild-mannered reporter for a great metropolitan newspaper, fights a never-ending battle for TRUTH,
JUSTICE and the AMERICAN WAY!"

Or the Canadian Way, in this case. :)
Well, in fact, he had arived on Canadian soil from the Netherlands only a couple years prior to that photo, but a certain 2nd generation Canadian girl took to him well enough... they'll be celebrating their 50th anniversary this year. :)

Stellaritic
05-01-2015, 12:54 PM
Mine are identical to DMXX's results, but 23andme says that I am a carrier of the red-hair gene variant :

Has one variant in the MC1R gene associated with red hair. People with this result are known as carriers and do not typically have red hair, but may have children with red hair if their partner is also a carrier. Only 5% of 23andMe customers with this result report having red hair.
Variants detected: D294H

I have a predominantly black beard with reddish/brownish highlights.

ADW_1981
05-01-2015, 02:35 PM
"And who, disguised as Clark Kent, mild-mannered reporter for a great metropolitan newspaper, fights a never-ending battle for TRUTH,
JUSTICE and the AMERICAN WAY!"

Or the Canadian Way, in this case. :)

As an aside, Kent was co-created by a Canadian artist. (for anyone who didn't know)

tamilgangster
05-02-2015, 11:51 AM
I wonder if hunza and kalash with red hair also carry this gene, or a similar variation of it

pegasus
05-02-2015, 01:47 PM
^ I would think so, rufosity is sporadic among them, blondism is more common though.

I had Ginger red hair as a kid but it became Auburn by the time was I was an adult.

khanabadoshi
08-03-2015, 09:31 PM
I wonder if hunza and kalash with red hair also carry this gene, or a similar variation of it


^ I would think so, rufosity is sporadic among them, blondism is more common though.

I had Ginger red hair as a kid but it became Auburn by the time was I was an adult.

2 of my aunts are redheads; as was their mother (my grandmother's sister) and my great-grandmother. No one is fully blonde that I can think of, some are dirty blonde, but it looks more brown.

All the Hunza/Gilgit people I've met had red beard hairs, and their hair color often was brown with a very strong red tinge. I've only met 3-4 blondes, they were from Gilgit.

DMXX
08-03-2015, 09:40 PM
Mine are identical to DMXX's results, but 23andme says that I am a carrier of the red-hair gene variant :


I have a predominantly black beard with reddish/brownish highlights.

Which variant does the report say you have? That's very strange, as my report stated I had none of their variants.

Stellaritic
08-03-2015, 10:48 PM
Which variant does the report say you have? That's very strange, as my report stated I had none of their variants.

D294H, I read there are so many variants , but unfortunately 23andme only tests three of them.

Krefter
08-03-2015, 10:53 PM
Which variant does the report say you have? That's very strange, as my report stated I had none of their variants.

You should look at all your MC1R SNP calls at 23andme. I have only 1/6 major variants, and found via looking at all my MC1R SNP calls that I have another much more rare one.

tamilgangster
08-04-2015, 02:29 AM
Its important to note that Yamnya component peaks among udmurts, who also are known to have the highest frequency of red hair. Red hair is also a common occurence among kalash, hunza and even can be found among pashtun. It is possible that the source for the red hair gene is ANE/EHG . Though this could just be a coincidence. (omg im starting to sound like butlerking)

Krefter
08-04-2015, 07:26 PM
2 of my aunts are redheads; as was their mother (my grandmother's sister) and my great-grandmother. No one is fully blonde that I can think of, some are dirty blonde, but it looks more brown.

All the Hunza/Gilgit people I've met had red beard hairs, and their hair color often was brown with a very strong red tinge. I've only met 3-4 blondes, they were from Gilgit.

Since it's your aunts there's a pretty good chance you do and don't have any variants. Just check your whole MC1R gene at 23andme and you'll see if you carry any variants. Here they are again (https://docs.google.com/spreadsheets/d/1Dd8i-KNraJsYxgsZlXhX8MR48a4BdZ1tLx1i2mjH_wI/edit?usp=drive_web).

DMXX
09-11-2015, 01:08 PM
You should look at all your MC1R SNP calls at 23andme. I have only 1/6 major variants, and found via looking at all my MC1R SNP calls that I have another much more rare one.

Finally got round to doing this. My MC1R results below, plus the ancestral alleles for each.



Gene Position SNP Versions DMXX's Genotype Ancestral Allele Inference
MC1R 89984739 rs3212358 A or G GG G Nope!
MC1R 89985222 rs3212361 A or G AG G Misleading; A's in all sorts of pops
MC1R 89985844 rs1805005 G or T GG G Nope!
MC1R 89985913 rs34474212 C or T TT T Nope!
MC1R 89985918 rs1805006 A or C CC C Nope!
MC1R 89985940 rs2228479 A or G GG G Nope!
MC1R 89985950 rs34158934 C or T CC C Nope!
MC1R 89986091 rs11547464 A or G GG G Nope!
MC1R 89986117 rs1805007 C or G or T CC C Nope!
MC1R 89986130 rs1110400 C or T TT T Nope!
MC1R 89986144 rs1805008 C or T CC C Nope!
MC1R 89986154 rs885479 A or G GG G Nope!
MC1R 89986546 i3002507 C or G GG N/A
MC1R 89986608 rs2228478 A or G AA G Misleading; A's in all sorts of pops
MC1R 89986634 rs34020587 A or G GG N/A


Conclusion - No MC1R mutations are responsible for the minority auburn/reddish hairs. I anticipated this.

Checked the 23andMe available hair colour SNPs out from this study (http://www.biomedcentral.com/1471-2156/10/88).



SNP Red(*)/Light Allele DMXX's Genotype
rs7636389 A* GG
rs17346161 T* CC
rs11631195 A AG
rs3947367 C CT
rs1724593 C AC
rs1724625 T CT
rs1724630 G CG
rs1632403 T CC
rs919197 T CT
rs9613187 T CC


Conclusion - Heterozygous for most (explains the brownish-blondish beard hairs), just not those for red hair.

I suspect at this point whatever mutation's responsible for the red-tinged beard hairs aren't in MC1R.

Stephen1986
09-11-2015, 02:15 PM
Here are the results from 23andMe for my brother and myself. We had a couple of redheaded relatives a few generations back and my brother has a reddish-black beard (my facial hair has less red), whilst our hair is dark brown.

rs1805007 - I have CC, my brother has CT
rs1805008 - We both have CC
i3002507 - We both have GG

rms2
09-12-2015, 12:09 AM
I did not test with 23andMe, but my red hair variant (Arg160Trp) has been confirmed by both FTDNA and BritainsDNA, and here's a photo of three of my descendants (my grandkids). :)

5866

Ravai
06-30-2018, 08:45 AM
MC1R loci Anc/Der Me
--------- ------- ---------
rs1805009 G/C Not found
rs2228479 G/A AG
rs1805006 C/A CC
rs1805007 C/T Not found
rs1805008 C/T CC
rs1805005 G/T GT