The genetic variation of lactase persistence alleles in northeast Africa

  title={The genetic variation of lactase persistence alleles in northeast Africa},
  author={Nina Hollfelder and Hiba Babiker and Lena Graneh{\"a}ll and Carina M. Schlebusch and Mattias Jakobsson},
Lactase persistence (LP) is a well-studied example of a Mendelian trait under selection in some human groups due to gene-culture co-evolution. We investigated the frequencies of genetic variants linked to LP in Sudanese and South Sudanese populations. These populations have diverse subsistence patterns, and some are dependent on milk to various extents, not only from cows, but also from other livestock such as camels and goats. We sequenced a 316bp region involved in regulating the expression… 
2 Citations

Human adaptation, demography, and cattle domestication: an overview of the complexity of lactase persistence in Africa.

This review summarizes recent advances in the understanding of the genetic basis and evolutionary history of lactase persistence, as well as the factors that influenced the origin and spread of pastoralism in Africa.

Genetic diversity of the Sudanese: insights on origin and implications for health

The diverse Sudanese gene pool further has the potential to inform on genetic adaptations driven by culture and the environment resulting in unique and interesting traits, some of which are yet to be investigated.



Genetic diversity of lactase persistence in East African populations

It is shown that with the exception of Copts and Nilotic populations who are fully lactose non-persistent, the majority of populations of East Africa show at least partly lactose persistence, with both ethnic and socio-economic aspects playing an important role in the distribution of genetic variants.

Convergent adaptation of human lactase persistence in Africa and Europe

A genotype-phenotype association study in Tanzanians, Kenyans and Sudanese and identified three SNPs that are associated with lactase persistence and that have derived alleles that significantly enhance transcription from the LCT promoter in vitro, providing a marked example of convergent evolution due to strong selective pressure resulting from shared cultural traits.

Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep.

Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations

This study provided a first report of LP-associated alleles and haplotypes in the Tunisian population and highlighted a gradient followed by LP diffusion from Europe to North Africa.

A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?

A cohort study of lactose digester and non-digester Sudanese volunteers shows there is no association of -13910*T or the A haplotype with lactase persistence, and reveals the complexity of this phenotypic polymorphism and highlights the limitations of C-13910T as a diagnostic test for lact enzyme persistence status, at least for people with non-European ancestry.

Stronger signal of recent selection for lactase persistence in Maasai than in Europeans

The genome-wide signal of recent positive selection on haplotypic variation and population differentiation around the LCT gene is greater in the Maasai than in the CEU population (northwestern European descent), possibly due to stronger selection pressure, but it could also be an indication of more recent selection in MaAsai compared with the Central European group or more efficient selection in theMaasai due to less genetic drift for their larger effective population size.

Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.

The data about global allelic haplotypes of the lactose-tolerance variant imply that the T(-13910) allele has been independently introduced more than once and that there is a still-ongoing process of convergent evolution of the LP alleles in humans.