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1.
BMC Genomics ; 15: 963, 2014 Nov 07.
Artículo en Inglés | MEDLINE | ID: mdl-25376095

RESUMEN

BACKGROUND: Turkey is a crossroads of major population movements throughout history and has been a hotspot of cultural interactions. Several studies have investigated the complex population history of Turkey through a limited set of genetic markers. However, to date, there have been no studies to assess the genetic variation at the whole genome level using whole genome sequencing. Here, we present whole genome sequences of 16 Turkish individuals resequenced at high coverage (32×-48×). RESULTS: We show that the genetic variation of the contemporary Turkish population clusters with South European populations, as expected, but also shows signatures of relatively recent contribution from ancestral East Asian populations. In addition, we document a significant enrichment of non-synonymous private alleles, consistent with recent observations in European populations. A number of variants associated with skin color and total cholesterol levels show frequency differentiation between the Turkish populations and European populations. Furthermore, we have analyzed the 17q21.31 inversion polymorphism region (MAPT locus) and found increased allele frequency of 31.25% for H1/H2 inversion polymorphism when compared to European populations that show about 25% of allele frequency. CONCLUSION: This study provides the first map of common genetic variation from 16 western Asian individuals and thus helps fill an important geographical gap in analyzing natural human variation and human migration. Our data will help develop population-specific experimental designs for studies investigating disease associations and demographic history in Turkey.


Asunto(s)
Alelos , Genética de Población , Genoma Humano/genética , Análisis de Secuencia de ADN/métodos , África , Asia , Europa (Continente) , Frecuencia de los Genes , Estudio de Asociación del Genoma Completo , Geografía , Humanos , Nucleótidos/genética , Polimorfismo de Nucleótido Simple/genética , Reproducibilidad de los Resultados , Turquía
2.
J Clin Invest ; 119(3): 445-8, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19306500

RESUMEN

The targeting of tumors is made possible through establishing protein signatures specific for each cancer type. The recent recognition of the higher expression levels of HSP90 and its accumulation in tumor cell mitochondria has made the HSP90 network a feasible target for neutralization. HSP90 antagonizes the mitochondrial permeability transition,blocking cytochrome c release and apoptosis. In this issue of the JCI, Kang et al. report the synthesis of Gamitrinibs, which target mitochondrially localized HSP90, specifically killing human cancer cell lines, and provide a fresh approach for cancer treatment.


Asunto(s)
Antineoplásicos/uso terapéutico , Proteínas HSP90 de Choque Térmico/antagonistas & inhibidores , Neoplasias/metabolismo , Animales , Transporte Biológico , Línea Celular Tumoral , Citocromos c/antagonistas & inhibidores , Citocromos c/metabolismo , Proteínas HSP90 de Choque Térmico/efectos de los fármacos , Humanos , Mitocondrias/efectos de los fármacos , Mitocondrias/fisiología , Proteínas de Neoplasias/metabolismo
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