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Article
Open AccessAncient genomes from the Himalayas illuminate the genetic history of Tibetans and their Tibeto-Burman speaking neighbors
Present-day Tibetans have adapted both genetically and culturally to the high altitude environment of the Tibetan Plateau, but fundamental questions about their origins remain unanswered. Recent archaeological...
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Article
Open AccessThe genomic landscape of Nepalese Tibeto-Burmans reveals new insights into the recent peopling of Southern Himalayas
While much research attention has focused on demographic processes that enabled human diffusion on the Tibetan plateau, little is known about more recent colonization of Southern Himalayas. In particular, the ...
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Article
Open AccessGenetic structure in the Sherpa and neighboring Nepalese populations
We set out to describe the fine-scale population structure across the Eastern region of Nepal. To date there is relatively little known about the genetic structure of the Sherpa residing in Nepal and their gen...
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Article
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present i...
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Article
Admixture facilitates genetic adaptations to high altitude in Tibet
Admixture is recognized as a widespread feature of human populations, renewing interest in the possibility that genetic exchange can facilitate adaptations to new environments. Studies of Tibetans revealed can...
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Protocol
Allelic Imbalance Assays to Quantify Allele-Specific Gene Expression and Transcription Factor Binding
A growing number of noncoding variants are found to influence the susceptibility to common diseases and interindividual variation in drug response. However, the mechanisms by which noncoding variation affects ...
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Article
Correction: Corrigendum: Reconstructing Native American population history
Nature 488, 370–374 (2012); doi:10.1038/nature11258 At the time of publication of this Letter, the authors were unaware of a manuscript arriving at broadly similar conclusions based on allotype analysis by Wil...
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Article
Reconstructing Native American population history
A survey of genetic variation in Native American and Siberian populations reveals that Native Americans are descended from at least three streams of gene flow from Asia: after the initial peopling of the conti...
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Article
A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk
UDP-glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4) is an important metabolizing enzyme involved in the clearance of many xenobiotics and endogenous substrates, especially steroid hormones and bile a...
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Article
Adaptation – not by sweeps alone
There has been recent progress in identifying selective sweeps underlying a range of adaptations. Jonathan Pritchard and Anna Di Rienzo argue that many adaptive events in natural populations may occur by polyg...
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Article
Spatial patterns of variation due to natural selection in humans
Marked geographic patterns for the distribution of some heritable traits are observed in humans, including traits related to disease risk, pathogen resistance ...
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Article
UGT2B7 is not expressed in normal breast
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Article
Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans
The UDP-glucuronosylatransferase 1A1 (UGT1A1) gene is involved in the metabolism of estrogen and detoxification of potential carcinogens. The number of TA repeats in the promoter region of UGT1A1 has been linked ...
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Article
Open AccessPrevalence of common disease-associated variants in Asian Indians
Asian Indians display a high prevalence of diseases linked to changes in diet and environment that have arisen as their lifestyle has become more westernized. Using 1200 genome-wide polymorphisms in 432 indivi...
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Article
Functional constraints on the constitutive androstane receptor inferred from human sequence variation and cross-species comparisons
Members of the NR1I subfamily of nuclear receptors play a role in the transcriptional activation of genes involved in drug metabolism and transport. NR1I3, the constitutive androstane receptor (CAR), mediates ...
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Article
Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene
It has been proposed that variation in calpain 10 (CAPN10) contributes to the risk of type 2 diabetes (T2D). A previous survey of CAPN10 in ethnically diverse populations revealed an intronic region with a signif...
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Protocol
Amplification with Arbitrary Primers
Several methods have been published that rely on the use of short oligonucleotide primers with arbitrary sequences to amplify discrete DNA fragments by the polymerase chain reaction (PCR) (1,2). Typically, a sing...
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Article
Toward a more accurate time scale for the human mitochondrial DNA tree
Several estimates of the time of occurrence of the most recent common mitochondrial DNA (mtDNA) ancestor of modern humans have been made. Estimates derived from noncoding regions based on a model that classifi...
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Article
Genome map** by arbitrary amplification of yeast artificial chromosomes
Several methods have been described for using the polymerase chain reaction (PCR) to isolate fragments of DNA for genome map**. We have developed an approach for isolating discrete fragments by amplifying DN...
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Article
Molecular characterization of HbH disease in the Cuban population
Molecular characterization of the α-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with α- and ζ-specific probes. The re...
