Mongolians in the Genetic Landscape of Central Asia: Exploring the Genetic Relations among Mongolians and Other World Populations

Genetic data on North Central Asian populations are underrepresented in the literature, especially autosomal markers. In the present study we use 812 single nucleotide polymorphisms that are distributed across all the human autosomes and that have been extensively studied at Yale to examine the affinities of two recently collected, samples of populations: rural and cosmopolitan Mongolians from Ulaanbaatar and nomadic, Turkic-speaking Tsaatan from Mongolia near the Siberian border. We compare these two populations to one another and to a global set of populations and discuss their relationships to New World populations. Specifically, we analyze data on 521 autosomal loci (single SNPs and multi-SNP haplotypes) studied on 57 populations representing all the major geographical regions of the world. We conclude that the North Central Asian populations we study are genetically distinct from all other populations in our study and may be close to the ancestral lineage leading to the New World populations

Converting cold into pain

Cold temperature can evoke a wide spectrum of perceptual sensations that range from freshness to unpleasant cold or overt pain. In mammals, the detection of cold temperature is accomplished by the activation of different subsets of sensory terminals innervating the skin and mucosae. Direct recordings of corneal nerve endings, combined with studies of thermoreceptive neurons in culture, have allowed the characterization of ionic mechanisms involved in cold temperature sensing. In recent years, major progress has also taken place in the identification and operation of thermally gated ion channels, especially of the transient receptor potential (TRP) family. However, it is still uncertain how individual sensory endings can be activated with different thermal thresholds. In this review, we have considered the known properties of cold-sensitive receptors and their transduction mechanisms and related them to the sensations they evoke. We analyzed the evidence linking specific ion channels to the activation of particular sets of afferent fibers. In our view, cold thermotransduction is complex and involves the concerted operation of several ion channels. Excitatory effects of cationic channels (e.g., TRPs) balance their activity with several excitability brakes (e.g., potassium channels), leading to tunable levels of sensory thresholds and activity. Alteration in this fine balance may result in altered cold sensitivity, a frequent symptom in patients with peripheral nerve injury. © 2009 Springer-Verlag.We would also like to acknowledge the funding from the Spanish MICINN (projects BFU2007-61855, BFU2008-04425 and CONSOLIDER-INGENIO 2010 CSD2007-0002) and from the Fundación Marcelino Botín.Peer Reviewe

North Asian population relationships in a global context

Population genetic studies of North Asian ethnic groups have focused on genetic variation of sex chromosomes and mitochondria. Studies of the extensive variation available from autosomal variation have appeared infrequently. We focus on relationships among population samples using new North Asia microhaplotype data. We combined genotypes from our laboratory on 58 microhaplotypes, distributed across 18 autosomes, on 3945 individuals from 75 populations with corresponding data extracted for 26 populations from the Thousand Genomes consortium and for 22 populations from the GenomeAsia 100 K project. A total of 7107 individuals in 122 total populations are analyzed using STRUCTURE, Principal Component Analysis, and phylogenetic tree analyses. North Asia populations sampled in Mongolia include: Buryats, Mongolians, Altai Kazakhs, and Tsaatans. Available Siberians include samples of Yakut, Khanty, and Komi Zyriane. Analyses of all 122 populations confirm many known relationships and show that most populations from North Asia form a cluster distinct from all other groups. Refinement of analyses on smaller subsets of populations reinforces the distinctiveness of North Asia and shows that the North Asia cluster identifies a region that is ancestral to Native Americans

Ancestry inference of 96 population samples using microhaplotypes

Microhaplotypes have become a new type of forensic marker with a great ability to identify and deconvolute mixtures because massively parallel sequencing (MPS) allows the alleles (haplotypes) of the multi-SNP loci to be determined directly for an individual. As originally defined, a microhaplotype locus is a short segment of DNA with two or more SNPs defining three or more haplotypes. The length is short enough, less than about 300 bp, that the read length of current MPS technology can produce a phase-known sequence of each chromosome of an individual. As part of the discovery phase of our studies, data on 130 microhaplotype loci with estimates of haplotype frequency data on 83 populations have been published. To provide a better picture of global allele frequency variation, we have now tested 13 more populations for 65 of the microhaplotype loci from among those with higher levels of inter-population gene frequency variation, including 8 loci not previously published. These loci provide clear distinctions among 6 biogeographic regions and provide some information distinguishing up to 10 clusters of populations

52 additional reference population samples for the 55 AISNP panel

Ancestry inference for a person using a panel of SNPs depends on the variation of frequencies of those SNPs around the world and the amount of reference data available for calculation/comparison. The Kidd Lab panel of 55 AISNPs has been incorporated in commercial kits by both Life Technologies and Illumina for massively parallel sequencing. Therefore, a larger set of reference populations will be useful for researchers using those kits. We have added reference population allele frequencies for 52 population samples to the 73 previously entered so that there are now allele frequencies publicly available in ALFRED and FROG-kb for a total of 125 population samples. (C) 2015 The Authors. Published by Elsevier Ireland Ltd. This is an open access article under the CC BY-NCND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)

52 additional reference population samples for the 55 AISNP panel

AbstractAncestry inference for a person using a panel of SNPs depends on the variation of frequencies of those SNPs around the world and the amount of reference data available for calculation/comparison. The Kidd Lab panel of 55 AISNPs has been incorporated in commercial kits by both Life Technologies and Illumina for massively parallel sequencing. Therefore, a larger set of reference populations will be useful for researchers using those kits. We have added reference population allele frequencies for 52 population samples to the 73 previously entered so that there are now allele frequencies publicly available in ALFRED and FROG-kb for a total of 125 population samples