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Genetic Structure of Human Populations
General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies.
Genetic variation in IL28B and spontaneous clearance of hepatitis C virus
It is shown that the C/C genotype strongly enhances resolution of HCV infection among individuals of both European and African ancestry, the strongest and most significant genetic effect associated with natural clearance ofHCV.
A Human Genome Diversity Cell Line Panel
A resource of 1064 cultured lymphoblastoid cell lines (LCLs) () from individuals in different world populations and corresponding milligram quantities of DNA is deposited at the Foundation Jean…
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
Crystal structures, biochemical and functional studies of RAC1P29S showed that the alteration releases the conformational restraint conferred by the conserved proline, causes an increased binding of the protein to downstream effectors, and promotes melanocyte proliferation and migration, raising the possibility that pharmacological inhibition of downstream effector of Rac1 signaling could be of therapeutic benefit.
Reconstructing Native American Population History
It is shown that the initial peopling followed a southward expansion facilitated by the coast, with sequential population splits and little gene flow after divergence, especially in South America.
Evidence of positive selection acting at the human dopamine receptor D4 gene locus
- Y. Ding, H. Chi, +9 authors R. Moyzis
- Biology, MedicineProceedings of the National Academy of Sciences…
- 26 December 2001
It is shown by DNA resequencing/haplotyping of 600 DRD4 alleles, representing a worldwide population sample, that the origin of 2R–6R alleles can be explained by simple one-step recombination/mutation events and the 7R allele originated as a rare mutational event that nevertheless increased to high frequency in human populations by positive selection.
Evolutionary Dynamics of Human Toll-Like Receptors and Their Different Contributions to Host Defense
It is found that the intracellular TLRs—activated by nucleic acids and particularly specialized in viral recognition—have evolved under strong purifying selection, indicating their essential non-redundant role in host survival.
Insertional polymorphisms of full-length endogenous retroviruses in humans
- G. Turner, Madalina Barbulescu, Mei Su, M. Jensen-Seaman, K. Kidd, J. Lenz
- Medicine, BiologyCurrent Biology
- 2 October 2001
This work describes the first endogenous retroviruses in humans for which both the full-length provirus and the preintegration site alleles are shown to be present in the human population today, and indicates that HERV-K remained capable of reinfecting humans through very recent evolutionary times.
Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles
A SNP in a let-7 microRNA complementary site in the KRAS 3' untranslated region increases non-small cell lung cancer risk.
The LCS6 variant allele in a KRAS miRANA complementary site is significantly associated with increased risk for NSCLC among moderate smokers and represents a new paradigm for let-7 miRNAs in lung cancer susceptibility.