1. Mayans: a Y chromosome perspective.

    European Journal of Human Genetics 24(9):1352 (2016) PMID 26956252

    In spite of the wealth of available cultural and archeological information as well as general interest in the Mayans, little is known about their genetics. In this study, for the first time, we attempt to alleviate this lacuna of knowledge by comprehensively investigating the Y chromosome compos...
  2. Development of a new highly efficient 17 X-STR multiplex for forensic purposes.

    Electrophoresis 37(12):1651 (2016) PMID 27060859

    Currently, two of the most widely used X-chromosome STR (X-STR) multiplexes are composed by ten (GHEP-ISFG decaplex) and 12 markers (Investigator Argus X-12 Kit). The number of markers included is a drawback for complex relative testing cases, likewise the large size of some amplicons difficult ...
  3. Y-STR markers from Ladakh in the Himalayas.

    Legal Medicine 21:29 (2016) PMID 27497330

    A total of 223 samples from the general population of Ladakh in Northwestern India were amplified at 17 Y-STR loci using the AmpFlSTR® Yfiler™ system. The DNA profiles generated were employed to generate allelic frequencies, gene diversity, haplotype diversity and discrimination capacity values ...
  4. Ladakh, India: the land of high passes and genetic heterogeneity reveals a confluence of migrations.

    European Journal of Human Genetics 24(3):442 (2016) PMID 25966630 PMCID PMC4755386

    Owing to its geographic location near the longitudinal center of Asia, Ladakh, the land of high passes, has witnessed numerous demographic movements during the past millenniums of occupation. In an effort to view Ladakh's multicultural history from a paternal genetic perspective, we performed a ...
  5. Ethnically distinct populations of historical Tibet exhibit distinct autosomal STR compositions.

    Gene 578(1):74 (2016) PMID 26688553

    At an average altitude of 4000m above sea level, the Tibetan plateau is one of the highest plains on the planet. It is surrounded on three sides by massive mountain ranges: the Kunlun, the Karakoram and the Himalayas. These natural barriers have kept Tibet relatively isolated. In the present stu...
  6. The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.

    Current Biology 25(19):2518 (2015) PMID 26387712 PMCID PMC4714572

    Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-...
  7. Sousse: extreme genetic heterogeneity in North Africa.

    Journal of Human Genetics 60(1):41 (2015) PMID 25471516

    The male genetic landscape of the territory currently known as Tunisia is hampered by the scarcity of data, especially from cosmopolitan areas such as the coastal city of Sousse. In order to alleviate this lacuna, 220 males from Sousse were examined, for the first time, for more than 50 Y-chromo...
  8. The phylogenetic and geographic structure of Y-chromosome haplogroup R1a.

    European Journal of Human Genetics 23(1):124 (2015) PMID 24667786 PMCID PMC4266736

    R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them t...
  9. At the southeast fringe of the Bantu expansion: genetic diversity and phylogenetic relationships to other sub-Saharan tribes.

    Meta gene 2:670 (2014) PMID 25606451 PMCID PMC4287857

    Here, we present 12 loci paternal haplotypes (Y-STR profiles) against the backdrop of the Y-SNP marker system of Bantu males from the Maputo Province of Southeast Africa, a region believed to represent the southeastern fringe of the Bantu expansion. Our Maputo Bantu group was analyzed within the...
  10. Extreme genetic heterogeneity among the nine major tribal Taiwanese island populations detected with a new generation Y23 STR system.

    Forensic Science International: Genetics 12:100 (2014) PMID 24911980

    The Taiwanese aborigines have been regarded as the source populations for the Austronesian expansion that populated Oceania to the east and Madagascar off Africa to the West. Although a number of genetic studies have been performed on some of these important tribes, the scope of the investigatio...
  11. Taiwanese aborigines: genetic heterogeneity and paternal contribution to Oceania.

    Gene 542(2):240 (2014) PMID 24613753

    In the present study, for the first time, 293 Taiwanese aboriginal males from all nine major tribes (Ami, Atayal, Bunun, Rukai, Paiwan, Saisat, Puyuma, Tsou, Yami) were genotyped with 17 YSTR loci in a attend to reveal migrational patterns connected with the Austronesian expansion. We investigat...
  12. U1 small nuclear RNA variants differentially form ribonucleoprotein particles in vitro.

    Gene 540(1):11 (2014) PMID 24583175 PMCID PMC3997572

    The U1 small nuclear (sn)RNA participates in splicing of pre-mRNAs by recognizing and binding to 5' splice sites at exon/intron boundaries. U1 snRNAs associate with 5' splice sites in the form of ribonucleoprotein particles (snRNPs) that are comprised of the U1 snRNA and 10 core components, incl...
  13. United Arab Emirates: phylogenetic relationships and ancestral populations.

    Gene 533(1):411 (2014) PMID 24120897

    In the current report, 109 unrelated individuals from the United Arab Emirates (UAE) were typed across 15 autosomal short tandem repeat (STR) loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D149S433, vWA, TPOX, D18S51, D5S818 and FGA) routinely employed in popula...
  14. I-DNASE21 system: development and SWGDAM validation of a new STR 21-plex reaction.

    Forensic Science International: Genetics 8(1):10 (2014) PMID 24315583

    I-DNASE21 is a new STR multiplex system that amplifies 21 STR autosomal loci, plus the amelogenin locus in one reaction. This system has been designed to analyze all the STR loci included in the Combined DNA Index System (CODIS), Interpol Standard Set of Loci (ISSL), Extended European Standard S...
  15. Phylogenetic and forensic studies of the Southeast Florida Hispanic population using the next-generation forensic PowerPlex® Y23 STR marker system.

    Legal Medicine 15(6):289 (2013) PMID 23988486

    The purpose of this study is to examine the robustness and sensitivity of the newly available Y-STR multiplex kit, the PowerPlex® Y23 System, by comparing our data at the 23-loci level to the routinely used 17 loci provided by the AmpFlSTR® Yfiler® PCR Amplification kit. For the first time, alle...
  16. Neanderthal and Denisova genetic affinities with contemporary humans: introgression versus common ancestral polymorphisms.

    Gene 530(1):83 (2013) PMID 23872234

    Analyses of the genetic relationships among modern humans, Neanderthals and Denisovans have suggested that 1-4% of the non-Sub-Saharan African gene pool may be Neanderthal derived, while 6-8% of the Melanesian gene pool may be the product of admixture between the Denisovans and the direct ancest...
  17. Indigenous and foreign Y-chromosomes characterize the Lingayat and Vokkaliga populations of Southwest India.

    Gene 526(2):96 (2013) PMID 23664983

    Previous studies have shown that India's vast coastal rim played an important role in the dispersal of modern humans out of Africa but the Karnataka state, which is located on the southwest coast of India, remains poorly characterized genetically. In the present study, two Dravidian populations,...
  18. Reconciling migration models to the Americas with the variation of North American native mitogenomes.

    PNAS 110(35):14308 (2013) PMID 23940335 PMCID PMC3761611

    In this study we evaluated migration models to the Americas by using the information contained in native mitochondrial genomes (mitogenomes) from North America. Molecular and phylogeographic analyses of B2a mitogenomes, which are absent in Eskimo-Aleut and northern Na-Dene speakers, revealed tha...
  19. The Himalayas: barrier and conduit for gene flow.

    American Journal of Physical Anthropology 151(2):169 (2013) PMID 23580401

    The Himalayan mountain range is strategically located at the crossroads of the major cultural centers in Asia, the Middle East and Europe. Although previous Y-chromosome studies indicate that the Himalayas served as a natural barrier for gene flow from the south to the Tibetan plateau, this regi...
  20. Ascertaining the role of Taiwan as a source for the Austronesian expansion.

    American Journal of Physical Anthropology 150(4):551 (2013) PMID 23440864

    Taiwanese aborigines have been deemed the ancestors of Austronesian speakers which are currently distributed throughout two-thirds of the globe. As such, understanding their genetic distribution and diversity as well as their relationship to mainland Asian groups is important to consolidating th...