RESUMEN
The medieval Norsemen or Vikings had an important biological and cultural impact on many parts of Europe through raids, colonization and trade, from about AD 793 to 1066. To help understand the genetic affinities of the ancient Norsemen, and their genetic contribution to the gene pool of other Europeans, we analysed DNA markers in Late Iron Age skeletal remains from Norway. DNA was extracted from 80 individuals, and mitochondrial DNA polymorphisms were detected by next-generation sequencing. The sequences of 45 ancient Norwegians were verified as genuine through the identification of damage patterns characteristic of ancient DNA. The ancient Norwegians were genetically similar to previously analysed ancient Icelanders, and to present-day Shetland and Orkney Islanders, Norwegians, Swedes, Scots, English, German and French. The Viking Age population had higher frequencies of K*, U*, V* and I* haplogroups than their modern counterparts, but a lower proportion of T* and H* haplogroups. Three individuals carried haplotypes that are rare in Norway today (U5b1b1, Hg A* and an uncommon variant of H*). Our combined analyses indicate that Norse women were important agents in the overseas expansion and settlement of the Vikings, and that women from the Orkneys and Western Isles contributed to the colonization of Iceland.
Asunto(s)
ADN Mitocondrial/genética , Fósiles , Marcadores Genéticos/genética , Variación Genética , Migración Humana/historia , Secuencia de Bases , Huesos/química , ADN Mitocondrial/historia , Femenino , Haplotipos/genética , Historia Medieval , Humanos , Datos de Secuencia Molecular , Noruega , Técnicas de Amplificación de Ácido Nucleico , Alineación de Secuencia , Análisis de Secuencia de ADN , Diente/químicaRESUMEN
Alternative premessenger RNA splicing enables genes to generate more than one gene product. Splicing events that occur within protein coding regions have the potential to alter the biological function of the expressed protein and even to create new protein functions. Alternative splicing has been suggested as one explanation for the discrepancy between the number of human genes and functional complexity. Here, we carry out a detailed study of the alternatively spliced gene products annotated in the ENCODE pilot project. We find that alternative splicing in human genes is more frequent than has commonly been suggested, and we demonstrate that many of the potential alternative gene products will have markedly different structure and function from their constitutively spliced counterparts. For the vast majority of these alternative isoforms, little evidence exists to suggest they have a role as functional proteins, and it seems unlikely that the spectrum of conventional enzymatic or structural functions can be substantially extended through alternative splicing.
Asunto(s)
Empalme Alternativo , Precursores del ARN , Bases de Datos Genéticas , Regulación de la Expresión Génica , Genoma Humano , Humanos , Internet , Modelos Moleculares , Conformación Proteica , Isoformas de Proteínas , Señales de Clasificación de Proteína , Estructura Terciaria de Proteína , Proteínas/química , Empalme del ARNRESUMEN
Using the Distributed Annotation System (DAS) we have created a protein annotation resource available at our web page: http://www.cbs.dtu.dk, as a part of the BioSapiens Network of Excellence EU FP6 project. The DAS protocol allows us to gather layers of annotation data for a given sequence and thereby gain an overview of the sequence's features. A user-friendly graphical client has also been developed (http://www.cbs.dtu.dk/cgi-bin/das), which demonstrates the possibility of integrating DAS annotation data from multiple sources into a simple graphical view. The client displays protein feature annotations from the Center for Biological Sequence Analysis as well as from the BioSapiens reference UniProt server (http://www.ebi.ac.uk/das-srv/uniprot/das) at the European Bioinformatics Institute. Other DAS data sources for protein annotation will be added as they become available.