Lactose digestion and the evolutionary genetics of lactase persistence

@article{Ingram2008LactoseDA,
  title={Lactose digestion and the evolutionary genetics of lactase persistence},
  author={Catherine J. E. Ingram and Charlotte A. Mulcare and Yuval Itan and Mark George Thomas and Dallas M. Swallow},
  journal={Human Genetics},
  year={2008},
  volume={124},
  pages={579-591}
}
It has been known for some 40 years that lactase production persists into adult life in some people but not in others. However, the mechanism and evolutionary significance of this variation have proved more elusive, and continue to excite the interest of investigators from different disciplines. This genetically determined trait differs in frequency worldwide and is due to cis-acting polymorphism of regulation of lactase gene expression. A single nucleotide polymorphism located 13.9 kb upstream… Expand
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TLDR
The occurrence of only one -13910*T carrier out of 45 lactase persistent people from a cohort of phenotyped Sudanese individuals provided confirmation that the allele is not causal worldwide, and the cluster of lactase persistence associated alleles within a single regulatory element implies that they are causal. Expand
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TLDR
This work exploited known DNA 'marker' polymorphisms within the exons of the lactase gene to examine the expression of the individual lactase mRNA transcripts from persistent and non-persistent individuals in order to determine whether the regulation is in cis or trans. Expand
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TLDR
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TLDR
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TLDR
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TLDR
This study shows that a limited number of microsatellite loci may provide sufficient resolution to reconstruct key aspects of the evolutionary history of lactase persistence, providing an alternative to approaches based on large numbers of SNPs. Expand
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TLDR
Simple polymerase chain reaction-based procedures were used, combined with silver staining as a method of detection, and a region of linkage disequilibrium was observed which spans the whole coding region of the lactase gene (∼ 60–70 kb). Expand
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