Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

  title={Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA},
  author={Richard M. Andrews and Iwona Kubacka and Patrick F. Chinnery and Robert N. Lightowlers and Doug M. Turnbull and Neil Howell},
  journal={Nature Genetics},

Extensive analysis of mitochondrial DNA quantity and sequence variation in human cumulus cells and assisted reproduction outcomes.

It is suggested that the analysis of mtDNA in CCs is unlikely to provide an advantage in terms of improved embryo selection during assisted reproduction cycles, and the data raise interesting biological questions, particularly regarding the interplay of metabolism and BMI.

Investigating the genetics ofcord blood transplantation:from classical and non-classical HLAtowards non-HLA genetics and more

High definition of both class I and II HLA loci at time of listing is a way to improve the attractiveness of the Cord Blood Bank inventory in Pavia, reducing the time for donor search and procurement and simplifying donor choice, in particular for patients of non-European heritage.

Mitochondrial DNA diversity in a Transbaikalian Xiongnu population

Mitochondrial DNA variation in a Transbaikalian Xiongnu population based on ancient DNA obtained from skeletal remains at four burial grounds is analyzed to complement availableXiongnu genetic diversity data and observes high similarity between the Xionsgnu and contemporary indigenous populations of eastern Central Asia, particularly Mongolian-speaking groups.

Análisis del genoma mitocondrial de dos individuos inhumados en el sitio arqueológico CG14E01 “Isla Larga” (Rocha, Uruguay)

The goal of this paper is to analyze the complete mitochondrial genome of the female individuals, one of which shows perimortem trauma, and to belong to a previously unregistered haplotype of the founding American haplogroup C1b, sharing the mutations 185A, 3116T, 3203T, 14397G, and 14502C.

Fine Time Scaling of Purifying Selection on Human Nonsynonymous mtDNA Mutations Based on the Worldwide Population Tree and Mother–Child Pairs

At the most recent time scale in 124 mother–children transmissions, purifying selection was detectable through the loss of mtDNA variants with high predicted pathogenicity, agreeing with a significant propensity in 349 positions in the phylogenetic tree to revert back to the ancestral variant.

Simultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine

A new approach for whole mt genome MPS analysis from degraded and nondegraded materials relevant to resolve and infer maternal genetic ancestry at complete resolution in anthropological, evolutionary, medical, and forensic applications is introduced.

Mitochondrial DNA control region diversity in a population from Espirito Santo state, Brazil

It is concluded that this type of tool can be used both in forensic genetics to the study of different human populations, such as highly admixed populations, and in theStudy of migration’s history and colonization of different states and countries of the world.

The effectiveness of sequence variants of MTCOI and MTCYB besides entire D-Loop for haplotyping in eight population groups living in Taiwan

In addition to the polymorphisms of mtDNA hypervariable regions 1 and 2, the sequence variants of MTCOI and MTCYB are helpful for individual identification with varied ef fectiveness in different population groups.

Int. J. Biosci

It was observed that all the individuals of Kongu Vellalar caste population were falling in macrohaplogroup M and N, and there might be an admixture of this population with the surrounding Austro-Asiatic populations.

[Spectrum and frequency of mitochondrial 12S rRNA variants in the Chinese subjects with nonsynrdomic hearing loss in Zhejiang Province].

The data support the idea that mitochondrial 12S rRNA is one of major targets for aminoglycoside ototoxicity and helps to predict which individuals are at risk for otot toxicity, to improve the safety of aminglycoside antibiotic therapy, and eventually to decrease the incidence of deafness.



The sequence of human mtDNA: the question of errors versus polymorphisms.

Several nucleotide positions at which the mtDNA sequence obtained in the laboratory differs consistently from that of the standard Cambridge sequence are identified, which raises the question whether these discrepancies represent errors within thestandard Cambridge sequence or, alternatively, indicate polymorphic sites.

An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

It is shown here, however, that neither this biochemical lesion nor the optic neuropathy are due to the mutation at nucleotide position 11,778 of the mitochondrial ND4 gene first identified by Wallace et al. in several LHON pedigrees.

Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination.

The use of deoxyadenosine 5'-(alpha-[35S]thio)triphosphate as the label incorporated in dideoxynucleotide sequence reactions increases the sharpness of the bands on an autoradiograph and so increases the resolution achieved.

mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe.

This analysis revealed that a major Paleolithic population expansion from the "Atlantic zone" (southwestern Europe) occurred 10,000-15,000 years ago, after the Last Glacial Maximum, with haplogroup V, an autochthonous European haplogroups most likely originated in the northern Iberian peninsula or southwestern France at about the time of the Younger Dryas.

mtDNA Haplotype Analysis in Finnish Families with Leber Hereditary Optic Neuroretinopathy

Analysis of the mtDNAs revealed that the Finnish LHON families have two unique features: an absence of the ND6/14484 mutation and a high number of families (10/24) without the primary mutations ND1/3460 and ND4/11778.

Sequence and organization of the human mitochondrial genome

The complete sequence of the 16,569-base pair human mitochondrial genome is presented and shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs.

Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.

The phylogenetic analyses demonstrate that primary LHON mutations arose and were fixed multiple times within the population, even for the small set of LHON patients that was analyzed in these initial studies.

Classification of European mtDNAs from an analysis of three European populations.

The conclusion that most haplogroups observed in Europe are Caucasoid-specific, and that at least some of them occur at varying frequencies in different Caucasoid populations, is supported.

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

The involvement of both mitochondrial complex I (np 5244, 11778, 13708) and complex III (np 15257, 15812) mutations in LHON indicates that the clinical manifestations of this disease are the product of an overall decrease in mitochondrial energy production rather than a defect in a specific mitochondrial enzyme.