title: Polymorphic NumtS trace human population relationships.
abstract: The human genome is constantly subjected to evolutionary forces which shape its architecture. Insertions of mitochondrial DNA sequences into nuclear genome (NumtS) have been described in several eukaryotic species, including Homo sapiens and other primates. The ongoing process of the generation of NumtS has made them valuable markers in primate phylogenetic studies, as well as potentially informative loci for reconstructing the genetic history of modern humans. Here, we report the identification of 53 human-specific NumtS by inspection of the UCSC genome browser, showing that they may be direct insertions of mitochondrial DNA into the human nuclear DNA after the human-chimpanzee split. In silico analyses allowed us to identify 14 NumtS which are polymorphic in terms of their presence/absence within the human genome in individuals of different ancestry. The allele frequencies of these polymorphic NumtS were calculated for 1000 Genomes Project sequence data from 13 populations worldwide, and principal components analysis and hierarchical clustering methods allowed the detection of strong signals of geographical structure related to the genetic diversity of these loci. All identified polymorphic human-specific NumtS together with a tandemly duplicated NumtS have also been validated by PCR amplification on a panel of 60 samples belonging to five native populations worldwide, confirming the expected NumtS variability. On the basis of these findings, we have succeeded in depicting the landscape of variation of a series of NumtS in several ethnic groups, making an advance in their identification as useful markers in the study on human population genetics.
authors.affiliation: Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, UO Genetica Medica, Pad.11, Pol.S.Orsola-Malpighi, Università di Bologna, Via Massarenti 9, 40138 Bologna, Italy.
authors.forename: Martin
authors.initials: M
authors.lastname: Lang
authors.forename: Marco
authors.initials: M
authors.lastname: Sazzini
authors.forename: Francesco Maria
authors.initials: FM
authors.lastname: Calabrese
authors.forename: Domenico
authors.initials: D
authors.lastname: Simone
authors.forename: Alessio
authors.initials: A
authors.lastname: Boattini
authors.forename: Giovanni
authors.initials: G
authors.lastname: Romeo
authors.forename: Donata
authors.initials: D
authors.lastname: Luiselli
authors.forename: Marcella
authors.initials: M
authors.lastname: Attimonelli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Gasparre
mesh_terms: D002467:Cell Nucleus / Q000235:genetics*; D019992:Databases as Topic; D005006:Ethnicity / Q000235:genetics; D005819:Genetic Markers; D005828:Genetics, Population; D015894:Genome, Human; D006801:Humans; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D005819:Genetic Markers