Eur J Hum Genet. 2013 Mar;21(3):324-31. doi: 10.1038/ejhg.2012.167. Epub 2012 Aug 15.
The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y
chromosome haplogroup R-V88.
González M1, Gomes V, López-Parra AM, Amorim A, Carracedo A, Sánchez-Diz P, Arroyo-Pardo E,
Gusmão L.
Abstract
Human Y chromosomes belonging to the haplogroup R1b1-P25, although very common in Europe,
are usually rare in Africa. However, recently published studies have reported high frequencies of this
haplogroup in the central-western region of the African continent and proposed that this represents a
'back-to-Africa' migration during prehistoric times. To obtain a deeper insight into the history of these
lineages, we characterised the paternal genetic background of a population in Equatorial Guinea, a
Central-West African country located near the region in which the highest frequencies of the R1b1
haplogroup in Africa have been found to date. In our sample, the large majority (78.6%) of the
sequences belong to subclades in haplogroup E, which are the most frequent in Bantu groups.
However, the frequency of the R1b1 haplogroup in our sample (17.0%) was higher than that
previously observed for the majority of the African continent. Of these R1b1 samples, nine are
defined by the V88 marker, which was recently discovered in Africa. As high microsatellite variance
was found inside this haplogroup in Central-West Africa and a decrease in this variance was
observed towards Northeast Africa, our findings do not support the previously hypothesised
movement of Chadic-speaking people from the North across the Sahara as the explanation for
these R1b1 lineages in Central-West Africa. The present findings are also compatible with an origin
of the V88-derived allele in the Central-West Africa, and its presence in North Africa may be better
explained as the result of a migration from the south during the mid-Holocene.

PMID: 22892526 PMCID: PMC3573200 DOI: 10.1038/ejhg.2012.167