Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. (Articolo in rivista)

Type
Label
  • Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. (Articolo in rivista) (literal)
Anno
  • 2009-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1371/journal.pone.0007927 (literal)
Alternative label
  • Amato R, Pinelli M, Monticelli A, Marino D, Miele G, Cocozza S. (2009)
    Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases.
    in PloS one
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Amato R, Pinelli M, Monticelli A, Marino D, Miele G, Cocozza S. (literal)
Pagina inizio
  • e7927 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 4 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 8 (literal)
Note
  • ISI Web of Science (WOS) (literal)
  • SCImago (literal)
  • Scopu (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Gruppo Interdipartimentale di Bioinformatica e Biologia Computazionale, Universita` di Napoli ''Federico II'' Universita` di Salerno, Naples, Italy Dipartimento di Scienze Fisiche, Universita` degli Studi di Napoli ''Federico II'', Naples, Italy Dipartimento di Biologia e Patologia Cellulare e Molecolare ''L. Califano'', Universita` degli Studi di Napoli ''Federico II'', Naples Italy Istituto di Endocrinologia ed Oncologia Sperimentale, CNR Napoli, Naples, Italy Istituto Nazionale di Fisica Nucleare - Sezione di Napoli, Naples, Italy (literal)
Titolo
  • Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. (literal)
Abstract
  • Genetic differences both between individuals and populations are studied for their evolutionary relevance and for their potential medical applications. Most of the genetic differentiation among populations are caused by random drift that should affect all loci across the genome in a similar manner. When a locus shows extraordinary high or low levels of population differentiation, this may be interpreted as evidence for natural selection. The most used measure of population differentiation was devised by Wright and is known as fixation index, or F(ST). We performed a genome-wide estimation of F(ST) on about 4 millions of SNPs from HapMap project data. We demonstrated a heterogeneous distribution of F(ST) values between autosomes and heterochromosomes. When we compared the F(ST) values obtained in this study with another evolutionary measure obtained by comparative interspecific approach, we found that genes under positive selection appeared to show low levels of population differentiation. We applied a gene set approach, widely used for microarray data analysis, to detect functional pathways under selection. We found that one pathway related to antigen processing and presentation showed low levels of F(ST), while several pathways related to cell signalling, growth and morphogenesis showed high F(ST) values. Finally, we detected a signature of selection within genes associated with human complex diseases. These results can help to identify which process occurred during human evolution and adaptation to different environments. They also support the hypothesis that common diseases could have a genetic background shaped by human evolution. (literal)
Prodotto di
Autore CNR

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
data.CNR.it