12 documents found, page 1 of 2
Resolving the ancestry of Austronesian-speaking populations
Soares, P; Trejaut, JA; Rito, T; Cavadas, B; Hill, C; Eng, KK; Mormina, M; Brandão, A; Fraser, RM; Wang, T-Y; Loo, J-H; Snell, C; Ko, T-M; Amorim, AThere are two very different interpretations of the prehistory of Island Southeast Asia (ISEA), with genetic evidence invoked in support of both. The "out-of-Taiwan" model proposes a major Late Holocene expansion of Neolithic Austronesian speakers from Taiwan. An alternative, proposing that Late Glacial/postglacial sea-level rises triggered largely autochthonous dispersals, accounts for some otherwise enigmatic...
Evaluating purifying selection in the mitochondrial DNA of various mammalian sp...
Soares, P; Abrantes, D; Rito, T; Thomson, N; Radivojac, P; Li, B; Macaulay, V; Samuels, DC; Pereira, LMitochondrial DNA (mtDNA), the circular DNA molecule inside the mitochondria of all eukaryotic cells, has been shown to be under the effect of purifying selection in several species. Traditional testing of purifying selection has been based simply on ratios of nonsynonymous to synonymous mutations, without considering the relative age of each mutation, which can be determined by phylogenetic analysis of this no...
A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages
Costa, MD; Pereira, JB; Pala, M; Fernandes, V; Olivieri, A; Achilli, A; Perego, UA; Rychkov, S; Naumova, O; Hatina, J; Woodward, SR; Eng, KKThe origins of Ashkenazi Jews remain highly controversial. Like Judaism, mitochondrial DNA is passed along the maternal line. Its variation in the Ashkenazim is highly distinctive, with four major and numerous minor founders. However, due to their rarity in the general population, these founders have been difficult to trace to a source. Here we show that all four major founders, ~40% of Ashkenazi mtDNA variatio...
Mitochondrial DNA signals of Late Glacial recolonization of Europe from Near Ea...
Pala, M; Olivieri, A; Achilli, A; Accetturo, M; Metspalu, E; Reidla, M; Tamm, E; Karmin, M; Reisberg, T; Hooshiar Kashani, B; Perego, UA; Carossa, VHuman populations, along with those of many other species, are thought to have contracted into a number of refuge areas at the height of the last Ice Age. European populations are believed to be, to a large extent, the descendants of the inhabitants of these refugia, and some extant mtDNA lineages can be traced to refugia in Franco-Cantabria (haplogroups H1, H3, V, and U5b1), the Italian Peninsula (U5b3), and t...
The expansion of mtDNA haplogroup L3 within and out of Africa
Soares, P; Alshamali, F; Pereira, JB; Fernandes, V; Silva, NM; Afonso, C; Costa, MD; Musilová, E; Macaulay, V; Richards, MB; Cerny, V; Pereira, LAlthough fossil remains show that anatomically modern humans dispersed out of Africa into the Near East ∼100 to 130 ka, genetic evidence from extant populations has suggested that non-Africans descend primarily from a single successful later migration. Within the human mitochondrial DNA (mtDNA) tree, haplogroup L3 encompasses not only many sub-Saharan Africans but also all ancient non-African lineages, and its ...
Population expansion in the North Africa Late Pleistocene signalled by mitochon...
Pereira, L; Silva, NM; Franco-Duarte, R; Fernandes, V; Pereira, JB; Costa, MD; Martins, H; Soares, P; Behar, DM; Richards, MB; Macaulay, VBACKGROUND: The archaeology of North Africa remains enigmatic, with questions of population continuity versus discontinuity taking centre-stage. Debates have focused on population transitions between the bearers of the Middle Palaeolithic Aterian industry and the later Upper Palaeolithic populations of the Maghreb, as well as between the late Pleistocene and Holocene. RESULTS: Improved resolution of the mitocho...
The diversity present in 5140 human mitochondrial genomes
Pereira, L; Freitas, F; Fernandes, V; Pereira, JB; Costa, MD; Costa, S; Máximo, V; Macaulay, V; Rocha, R; Samuels, DCWe analyzed the current status (as of the end of August 2008) of human mitochondrial genomes deposited in GenBank, amounting to 5140 complete or coding-region sequences, in order to present an overall picture of the diversity present in the mitochondrial DNA of the global human population. To perform this task, we developed mtDNA-GeneSyn, a computer tool that identifies and exhaustedly classifies the diversity ...
MtDNA phylogeny and evolution of laboratory mouse strains
Goios, A; Pereira, L; Bogue, M; Macaulay, V; Amorim, AInbred mouse strains have been maintained for more than 100 years, and they are thought to be a mixture of four different mouse subspecies. Although genealogies have been established, female inbred mouse phylogenies remain unexplored. By a phylogenetic analysis of newly generated complete mitochondrial DNA sequence data in 16 strains, we show here that all common inbred strains descend from the same Mus musculu...
No evidence for an mtDNA role in sperm motility: data from complete sequencing ...
Pereira, L; Gonçalves, J; Franco-Duarte, R; Silva, J; Rocha, T; Arnold, C; Richards, M; Macaulay, VThe first complete mitochondrial DNA (mtDNA) sequences (approximately 16,569 bp) in 20 patients with asthenozoospermia and a comparison with 23 new complete mtDNA sequences in teratoasthenozoospermic individuals, confirmed no sharing of specific polymorphisms or specific mitochondrial lineages between these individuals. This is strong evidence against the accepted claim of a major role played by mtDNA in male f...
Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a E...
Pereira, L; Richards, M; Goios, A; Alonso, A; Albarrán, C; Garcia, O; Behar, DM; Gölge, M; Hatina, J; Al-Gazali, L; Bradley, DG; Macaulay, V; Amorim, AThe impact of phylogeographic information on mtDNA forensics has been limited to the quality control of published sequences and databases. In this work we use the information already available on Eurasian mtDNA phylogeography to guide the choice of coding-region SNPs for haplogroup H. This sub-typing is particularly important in forensics since, even when sequencing both HVRI and HVRII, the discriminating power...