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Subject: mtDNA A to Z - Importance of 16223
Date: Sun, 08 May 2005 19:55:19 +0000


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I am in the process of converting the 503 Shetland samples from the Goodacre et al. study to a series of HVR1 sequences (the data is only in nucleotide strings in GenBank). Thanks to my excellent consultant who designed a program to take this data and assign CRS mutation values (e.g., 16311), and to my colleague Jim Wilson who provided an algorithm that has converted about 80% of the sequences to haplogroups (e.g., U5a1), I am well under way to having data useful for my Shetland research.

What struck me in the investigation of haplogroup assignment from haplotype is how difficult it is unless you can find an exact sequence in the mtDNA Concordance for example. One of the huge problems in my quest to find a few Central Asian motifs in the lot is that 16233 is a defining ancestral sequence type for haplogroups A, B, C, D, E, F, G, I, L, M, N, W, and X. How can one possibly assign a haplogroup from a haplotype unless by chance there is a published sequence that exactly matches on in the database one is exploring? Sometimes there is an additional mutation used in the haplogroup definition but I don't ever recall anyone discussing how a single mutaion can be so key to widely separated (in some cases) haplogroups. It is so much easier with say haplogroup K where either 16224 16311 is there or it is not - this haplogroup poses limited difficulties in classification. Of course if the authors had included coding region data I would not have these problems.

Interestingly I have found only L motifs (3) with the 16223 motif and nothing from Central Asia. The L likely came from Africa at some unknown time - Jim thinks via Edinburgh 300 years ago and England before that and then Africa (based on other European datasets he has examined).

It would appear that if my Central Asian migration hypothesis in relation to Y-DNA holds true then the stories from the Eddas that the men (Hun and Alanic) married local women in Scandinavia are accurate - since for example the Island of Havar in the Adriatic where one finds Y haplogroup Q (Central Asian), mtDNA haplogroup F (Central Asian) is also present.

David F.

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