Saturday, February 20, 2016

The I-M253 Y-Chromosome Haplogroup

Some years ago, I supplied a tissue sample to the Timen Stiddem Society.  The sample was analyzed to ascertain the haplogroup for the Y-chromosome.  Y-chromosomes are inherited only by males from their fathers; it is the sex-determining factor, males having one X-chromosome from the mothers and one Y-chromosome from the father.  Females, in contrast, have two X-chromosomes, one from the mother and the other from the father.

The Y-chromosome has relatively few transcribed genes.  One estimate holds that the human Y-chromosome as lost 1,393 of its original 1,438 genes.  As such, it hosts the highest rates of mutation, because deleterious effects are rare.  In addition, most of the chromosome cannot recombine with the X-chromosome.  This non-recombining region of the chromosome ('NRY') is sequenced in terms of single nucleotide polymorphisms to trace direct paternal lines.  There are 37 regions that can be differentiated by pattern of SNPs falls into a limited number of groups.

My sample grouped with the I-M253 haplogroup.  This group is described in the Wikipedia link:

In human genetics, Haplogroup I-M253 is a Y chromosome haplogroup which occurs at greatest frequency in Fenno-Scandia. The mutations identified with Haplogroup I-M253 (Y-DNA) are M253, M307, P30, and P40. These are known as single nucleotide polymorphisms (SNPs). It is a subclade of Haplogroup I. Before a reclassification in 2008,[2] the group was known as Haplogroup I1a.
The group displays a very clear frequency gradient, with a peak of approximately 40 percent among the populations of western Finland and more than 50 percent in the province of Satakunta,[3] and around 38 percent in Sweden as a whole, with a peak of 52 percent in Västra Götaland County in central Sweden.[4]
In the Timen Stidham project, the I-M253 group is the most frequent among those who have participated.  However, my genealogy research does not yet support this connection.

The origin of the I-M253 pattern has been estimated to have occurred 3,470 - 5,070 years ago.  Using 4,000 years as a round number and an average generation time of 25 years, one can estimate that this is 160 generations since 2,000 BCE.

Famous people in the I-M253 haplogroup include Birger Jarl, one of Sweden's greatest medieval statesman, Alexander Hamilton, Andrew Jackson, Leo Tolstoy, Calvin Coolidge, Warren Buffett, and Jimmy Buffett.

These relationships should be considered in the context of the calculated 160 generations since the haplogroup emerged.  Think of eight generations back, 200 years, the time of Alexander Hamilton.  We would go this number of generations back times 20 to arrive at a the original I-M253.  Clearly, the haplogroup has little relevance in accounting for anything in my own life history.  

Another context would be the distance to the human 'Adam'.  He and 'Eve' are estimated to have lived 200,000 to 300,000 years ago.  Using the 25 year generation time, there have been 8,000 - 12,000 generations since our species separated into its current configuration.  I believe there is a timeline showing the estimates of the start of each haplogroup, but I don't know them off hand.  Using the letters in order, 'I' would be number 9, perhaps indicating a haplogroup emerging every 20,000 years. This estimation tracks well with literature numbers.  Put into another perspective, the origin of the I-M253 haplogroup occurred around the time of the separation of the Jewish and the Arab tribes.  Call me Ishmael!




Introduction

I do not feel as isolated and rejected as the biblical Ishmael.  Neither am I a nomadic outsider, yet protected by God.  So why use this famous line for my genealogy blog?

Genealogy allows me to explore certain details of my existence.  In this futile attempt in self-discovery, I can at least describe some of the people to whom I am related by blood and marriage.  I suppose my premise, that one cannot understand oneself simply by tracing family relationships, is the analogy of being separated from God.  I am free to interpret myself without regard to my discoveries.

So why bother?  Well, it is like so many aspects of life.  My genealogy can be described, and in some sense it must be relevant for my self discovery, limitations notwithstanding.  So, here we go.