mtDNA hypervariable region II (HVII) sequences in human evolution studies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2000-12

AUTHORS

Antonio Salas, Victoria Lareu, Francesc Calafell, Jaume Bertranpetit, Ángel Carracedo

ABSTRACT

Variation in human mitochondrial DNA (mtDNA) has been used to infer the origin and migration patterns in human populations. mtDNA analysis has been focused mainly on the first hypervariable region (HVI). Nevertheless, although many studies of the second hypervariable region (HVII) have been carried out during recent years, the correlation between the first and the second hypervariable regions has not been well established. We have analysed 71 individuals from a relatively isolated region at the westernmost edge of continental Europe (Galicia, NW Iberian peninsula) and we have used available HVII sequence information from another 17 European and African populations. The results show high concordance between the two hypervariable regions, not only in variability levels but also in other phylogenetic aspects. The study of the population structure through an AMOVA analysis shows a low level of heterogeneity in the European populations. Nevertheless, we have found some inconsistency in the results, which are related to the mutation rate in these two hypervariable regions. These results are compatible with a high heterogeneity of mutation rates across the HVII region and stress the interest of HVII in population and forensic genetics. More... »

PAGES

5200563

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200563

DOI

http://dx.doi.org/10.1038/sj.ejhg.5200563

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037251559

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11175285


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