Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome
Ramos, Amanda (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Pereira dos Santos, Cristina Maria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Mateiu, Ligia (Laboratory of Reproductive Genomics)
Gonzalez, Maria del Mar (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Alvarez, Luis (University of Porto. Institute of Molecular Pathology and Immunology)
Azevedo, Luisa (University of Porto. Institute of Molecular Pathology and Immunology)
Amorim, Adelina (University of Porto. Institute of Molecular Pathology and Immunology)
Aluja París, Maria Pilar (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)

Data:	2013
Resum:	Determining the levels of human mitochondrial heteroplasmy is of utmost importance in several fields. In spite of this, there are currently few published works that have focused on this issue. In order to increase the knowledge of mitochondrial DNA (mtDNA) heteroplasmy, the main goal of this work is to investigate the frequency and the mutational spectrum of heteroplasmy in the human mtDNA genome. To address this, a set of nine primer pairs designed to avoid co-amplification of nuclear DNA (nDNA) sequences of mitochondrial origin (NUMTs) was used to amplify the mitochondrial genome in 101 individuals. The analysed individuals represent a collection with a balanced representation of genders and mtDNA haplogroup distribution, similar to that of a Western European population. The results show that the frequency of heteroplasmic individuals exceeds 61%. The frequency of point heteroplasmy is 28. 7%, with a widespread distribution across the entire mtDNA. In addition, an excess of transitions in heteroplasmy were detected, suggesting that genetic drift and/or selection may be acting to reduce its frequency at population level. In fact, heteroplasmy at highly stable positions might have a greater impact on the viability of mitochondria, suggesting that purifying selection must be operating to prevent their fixation within individuals. This study analyses the frequency of heteroplasmy in a healthy population, carrying out an evolutionary analysis of the detected changes and providing a new perspective with important consequences in medical, evolutionary and forensic fields.
Ajuts:	Ministerio de Ciencia e Innovación CGL2009-08205 Ministerio de Educación y Ciencia CGL2006-07374 Ministerio de Ciencia e Innovación CGL2008-03408-E Agència de Gestió d'Ajuts Universitaris i de Recerca 2009/SGR-566
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Publicat a:	PloS one, Vol. 8, Issue 10 (October 2013) , art. e74636, ISSN 1932-6203

DOI: 10.1371/journal.pone.0074636
PMID: 24098342

10 p, 1.1 MB

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