SUMMARY OF SNP (April, 2013)

Classification of SNP: Very large branch.

Estimated Breadth of SNP (over 70 % match): Around 1,800 67 marker submissions.

Scope of Testing within Fingerprint: Extensive - Around 550 have tested positive out of over 1,900 possible candidates (over 50 % matches - 67 markers only).

Dominant Surnames: Daugherty (81), Alexander (27), Patterson (26), Ewing (22), Burns/Byrnes (21), Donahue (21), Kelly (21), Duncan (18), Cowan (17), Campbell (16), Caine (15), Larkin (15), McLaughlin (14), McDonald (13) and Milligan (13) and probably even higher counts due other spelling variants.

Year that SNPs were discovered: 2005 (estimate).

Source of SNP: Discovered via academic research - even before L21 was discovered.

Number of Positive Tests: Over 550 submissions.

Number of Negative Broad Tests: Over 2,600 submissions.

Number of Negative Tests within Fingerprint (over 70 % match): Only two found.

Possible Untested Candidates (over 70 % match): Over 1,300 submissions.

Pending Tests (within Fingerprint): Probably several Nat Geo tests and several special order YSNP tests pending due to such a large scope SNP.

TRENDS OF TESTING CANDIDATES

M222 Fingerprint

The curve associated with the testing candidates appears to be typical for L21 SNPs where the number of testing candidates declines down to 70 % matches, remains low between 50 and 70 % and then sees a sharp rise as non-M222 submissions dominate the under 50 % matches. However, the slope of the declining part of the curve is not as dramatic as most L21 SNPs and M222 continues to test positive down to even 55 % matches. This suggests some minor overlap of testing results in at fairly high fingerprint matches as well as many positive submissions (although very few) at very low fingerprint matches. For low M222 fingerprint matches, 481 >= 25 appears to be required to test positive for M222 for 90 % of the submissions.

ISOGG Status - Prove relationship of M222 to other L21 SNPs

Requirements of proving M222 position on the ISOGG haplotree were met prior to the formation of the ISOGG organization. Additionally, M222 was discovered prior to R-L21 and when only P66 was the only other known R-L21 SNP. Qualification requirements will be added in a future iteration of this analysis.

DNA FINGERPRINTS

L21 Off Modal Mutations:

Markers 1 to 37: 390 >= 25, 385b <= 13, 392 >= 14, 448 <= 18, 464b >= 16, 464c <= 16, 456 >= 17 and 607 >= 16 (8 mutations).

Markers 38 to 67: 413a <= 21, 534 >= 16 and 481 >= 25 (3 mutations).

DNA Signature (L21 Plus project spreadsheet): 49-23222-NN (includes 31 subgroups).
Most signatures include the following four mutations:

Markers 1 to 37: 392 >= 14 (1 mutation).

Markers 38 to 67: 413a <=22, 534 >=16 and 481 >= 24 (3 mutations).

Almost all M222 signatures do not contain enough markers. Every signature should contain the eleven markers in the M222 fingerprint (except for those few that backwards mutation back to the L21 modal values). Also, I have recently modified the marker values for 413a and 481 to be multiple step mutations from the L21 modal value. All fingerprint matches down to 6 of 11 matches have the following marker counts for the M222 fingerprint:

Marker Value / number of submissions

All submissions / 1,899
390 >= 25 / 1,694
385b <= 13 / 1,784
392 >= 14 / 1,836
448 <= 18 / 1,824
464b >= 16 / 1,651
464c <= 16 / 1,623
456 >= 17 / 1,372
607 >= 16 / 1,627
413a <= 21 / 1,747
534 >= 16 / 1,621
481 >= 25 / 1,640

The M222 spreadsheet includes 88 unique surname clusters with strong M222 off modal mutations and another 39 surname clusters with only one or two M222 off modal mutatations. There is another 69 surname clusters of surname submissions where no clear M222 off modal values were found. Also, there are 122 submissions with no surname and probably much more surname variation consolidation that could yield even more clusters.

Only one possible post M222 creation mutation was found. Marker value 456 has 527 submissions that do not match the M222 fingerprint but has 1,372 submissions that do match the M222 fingerprint. This could represent a major post-M222 creation mutation but is more likely one or more backwards mutations back to the M222 modal value. Lower matching submissions that have tested show a mixture of both positive and negative submissions for M222 fingerprint values which imply one or more backwards mutations (more likely these mutations are more likely to be independent parallel mutations back to original L21 modal value found in around 1,900 individual paths of where mutation can occur).

Only one key marker value was found (where the marker value appears to track whether M222 tests positive or negative). 481 >= 25 has no negative test results with lower fingerprint matches except for one submission that has a very high genetic distance from the M222 fingerprint. Also, the converse is also true, 481 <= 24 has no positive test results with lower fingerprint matches except for one submission. Therefore, there is a strong correlation that requires 481 >= 25 to test positive for M222 with only a few exceptions. See the bottom of the M222 Spreadsheet in the DNA Results pull-down menu (M222 link) for summaries of testing results at lower fingerprint matches.

All other M222 fingerprint marker values are very mixed for both positive and negative test results at lower fingerprint matches (including marker 456 which has many fewer overlapping values). It is believed that ten of the eleven M222 fingerprint marker values are pre-M222 creation. The scope of M222 is around 1,900 submissions which represents 1,900 different paths to the donors and creates numerous mutations due to the large scope of M222.

M222 Testing Candidates

Only 570 tests have been completed out of the 1,900 M222 testing candidates. However, for 7 of 11 matches and above, only three submissions have tested negative out 550 submissions tested. Therefore, testing higher matching fingerprints have extremely high odds of testing positive (over 99 %). However, any submission with 481 <= 24 should be tested regardless of the fingerprint match.

It recommended that all 6 of 11 matches be tested even though only 20 % of these submissions have tested positive to date. It is also recommended that 7 of 11 matches be tested since there on only 21 of these submissions and only around 10 % of these have tested negative to date. For all lower fingerprint matches, 481 >= 25 results in positive results around 90 % of the time.

The Nat Geo test has been extremely fruitful for Y-SNPs that descend from M222. With 42 Nat Geo tests for M222 submissions, all testing has only produced one positive test for each newly discovered Y-SNP except for PF1169 which has only two positive results to date. All of these new Y-SNPs appear to be private or near-private based on the significant testing of M222 submissions by Nat Geo testing. PF1217 has been determined to be located in an unstable region is not recommended for further testing. PF1169 and F3952 are not available for special order testing to date and can only be tested via Nat Geo testing. However, CT8002, PF3292 and F1265 are available for testing via special order testing and it is expected that PF1169 and F3952 will be orderable in the next few weeks.

If you are a close Y-STR match to any submission testing positive for these new M222 related Nat Geo Y-SNPs, you should definitely test for these Y-SNPs. Since there are five newly discovered Y-SNPs under M222, it is also recommended that additional Nat Geo testing continue. However, the fingerprints of these newly discovered SNPs will soon be known and individual testing would be more economical if you are the patient type. For determining which submissions might match, search the the M222 spreadsheet in the DNA Results pull-down menu. For all Nat Geo testing, the surname has the Nat Geo testing results for any submission that has tested positive for these new Y-SNPs.