The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations

TLDR

Molecular genetic evidence supports a recent common African ancestry of modern humans, but its capacity to illuminate regional histories remains incomplete. The study uses unique Y‑chromosome event polymorphisms to trace successful migrations from Africa and subsequent colonizations, differentiations, and migrations overlaying earlier population ranges. A parsimonious genealogy was constructed from 205 DHPLC‑identified markers plus 13 literature markers, with ancestral states inferred from orthologous great ape sequences. The resulting 131 unique haplotypes reveal a detailed phylogeographic portrait of global modern human diversification, consistent with climatic, paleoanthropological, and other genetic evidence.

Abstract

Although molecular genetic evidence continues to accumulate that is consistent with a recent common African ancestry of modern humans, its ability to illuminate regional histories remains incomplete. A set of unique event polymorphisms associated with the non‐recombining portion of the Y‐chromosome (NRY) addresses this issue by providing evidence concerning successful migrations originating from Africa, which can be interpreted as subsequent colonizations, differentiations and migrations overlaid upon previous population ranges. A total of 205 markers identified by denaturing high performance liquid chromatography (DHPLC), together with 13 taken from the literature, were used to construct a parsimonious genealogy. Ancestral allelic states were deduced from orthologous great ape sequences. A total of 131 unique haplotypes were defined which trace the microevolutionary trajectory of global modern human genetic diversification. The genealogy provides a detailed phylogeographic portrait of contemporary global population structure that is emblematic of human origins, divergence and population history that is consistent with climatic, paleoanthropological and other genetic knowledge.