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Y Chromosome

Molecular Anthropology Using The Y Chromosome

The field of molecular anthropology is predicated on the concept that the genes of modern populations encode aspects of human history. By studying the degree of genetic molecular variation in modern organisms, one can, in principle, understand past events. The Y chromosome is uniquely suited to such studies. Secondary applications of Y chromosome variation studies Schematic illustration of a gene tree created using Y chromosome polymorphisms. Each modern population (a-n) is descended from a single ancestral populate living 100,000 years ago. Each branching point represents a mutation event, which is then faithfully inherited. include forensics (criminological investigations, such as determining whether or not an individual has been involved in a crime) and genealogical reconstruction (verifying membership in a particular family's ancestry).

DNA polymers (such as chromosomes) are composed of a four-letter alphabet of chemicals called nucleotide bases. Random unique event mutations in DNA sequences can change the identity of a single base in the DNA molecule. These "spelling changes" are the essential currency of genetic anthropological research.

What is central is the assumption that a particular mutation arose just once in human history, and all men that display such a mutation on their Y chromosome descend from a common forefather on whom the mutation first appeared. The sequential buildup of such mutational events across the generations can be readily determined and displayed as a gene tree. Informally, the last known mutation to accumulate on a particular chromosome can be used to define a particular lineage or branch tip in the tree. As long as the mutational change does not affect the individual's ability to reproduce, it may be preserved and handed down to each succeeding generation, eventually becoming widespread in a population. Such mutations are called polymorphisms or genetic markers.

Since most of the Y chromosome has the special property of not recombining during meiosis, no shuffling of DNA from different ancestors occurs. As a consequence, any Y chromosome accumulates all the mutations that have occurred during its lineal life span and thus preserves the paternal genetic legacy that has been transmitted from father to son over the generations. The discovery of numerous Y chromosome polymorphisms has allowed us to deduce a reliable genealogy composed of numerous distinctive lineages. This concept is analogous to the genealogical relationships maintained by the traditional transmission of surnames in some cultures, although the gene tree approach provides access to a prehistorically deeper set of paternal relationships.

Molecular anthropologists have exploited this knowledge in an attempt to understand the history and evolutionary relationships of contemporary populations by performing a systematic survey of Y-chromosome DNA sequence variation. The unique nature of Y-chromosome diversification provides an elegant record of human population histories allowing researchers to reconstruct a global picture, emblematic of modern human origins, affinity, differentiation, and demographic history. The evidence shows that all modern extant human Y chromosomes trace their ancestry to Africa, and that descendants left Africa perhaps less than 100,000 years (or approximately 4,000 generations) ago.

While variation in any single DNA molecule can reflect only a small portion of human diversity, by merging other genetic information, such as data from the maternally transmitted mitochondrial DNA molecule, and nongenetic knowledge derived from archeological, linguistic, and other sources, we can improve our understanding of the affinities and histories of contemporary peoples.

Peter A. Underhill


Cavalli-Sforza, Luigi L. Genes, Peoples, and Languages, Mark Seielstad, trans. New York: North Point Press, 2000.

Jobling, Mark, and Christopher Tyler-Smith. "New Uses for New Haplotypes: The Human Y Chromosome, Disease, and Selection." Trends in Genetics 16 (2000): 356-362.

Strachan, Tom, and Andrew P. Read. Human Molecular Genetics. New York: Wiley-Liss, 1996.

Additional topics

Medicine EncyclopediaGenetics in Medicine - Part 4Y Chromosome - Paternal Inheritance, Sex Chromosome Evolution And Peculiarities, Molecular Anthropology Using The Y Chromosome - Sex Determination and Y Chromosome Genes