Differences in tissue distribution of HV2 length heteroplasmy in mitochondrial DNA between mothers and children

Asari, Masaru; Azumi, Jun-ichi; Shimizu, Keiko; Shiono, Hiroshi

doi:10.1016/j.forsciint.2007.06.015

Cited by 12 publications

(16 citation statements)

References 24 publications

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“…Between nucleotide positions 303 and 310 within the hypervariable region II (HVII) of the human mitochondrial control region, such a homopolymeric cytosine stretch exists, in which a length heteroplasmy is frequently observed [2,36]. Investigations in mother-child pairs [1,5,10,18,37], maternal relatives [26] and in different tissues of one individual [21,24,33,36] revealed a sporadic instability of the HVII length heteroplasmy. In some cases, a change of the predominant length variants between generations could be observed [5,10,18,26,37].…”

Section: Introductionmentioning

confidence: 99%

Analysis of mitochondrial length heteroplasmy in monozygous and non-monozygous siblings

et al. 2008

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The segregation of mitochondrial genomes and the inheritance of mitochondrial DNA are constant matters of debate. To obtain more information about this issue and to answer the question whether or not it is possible to distinguish mitochondrial DNA (mtDNA) samples from monozygous individuals by analysing heteroplasmic length variants, 290 monozygous and 121 dizygous twin pairs and 34 sets of multiples were studied by RFLP and partly by direct sequencing. A factor D describing the respective pattern of length variants in a given sample was also calculated. The results show that monozygous individuals exhibit a significantly lower median and closer distribution of D than non-monozygous siblings. Thus, a differentiation of mtDNA samples from monozygous twins by this trait is not possible. The high percentage of heteroplasmic individuals, the low median of the D values and the unexpectedly very similar distribution of length variants in monozygotic individuals support the existence of a relatively wide bottleneck or the assumption of a regeneration of length heteroplasmy following a tight bottleneck and agree with a random segregation of mtDNA genomes in dividing oocytes.

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Section: Introductionmentioning

confidence: 99%

Analysis of mitochondrial length heteroplasmy in monozygous and non-monozygous siblings

et al. 2008

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“…In LH studies, potential interference of polymerase errors introduced in the first PCR cycles is often analyzed by comparing the results of multiple cloning experiments performed on independent PCR products. If results are comparable, the effects of PCR errors are supposed to be minimal [7,11,12,29]. This was not performed in our study since, in our opinion, results would also be comparable if polymerase slippage occurred systematically during PCR amplification.…”

Section: Discussionmentioning

confidence: 82%

“…Studies of the human CR show that the abundance of length variants of heteroplasmic polynucleotide regions often varies within and among tissues in individuals [3,6,10,11]. In contrast to human mtDNA studies, an intra-individual comparison of DNA from five hair shafts and one buccal swab of 16 dogs displayed inter-and intra-tissue stability of the ma/mi pCpTpC combinations.…”

Section: Discussionmentioning

confidence: 84%

“…In human mtDNA studies, these differences range from apparent homoplasmy to various ratios of the heteroplasmic mtDNA sequences [2][3][4][5][6][7][8][9][10][11][12]. Several hypotheses have been proposed to explain these observations, such as (1) a genetic bottleneck, i.e., the proliferation of an isolated subset of mtDNA molecules, during oogenesis or early embryogenesis introducing variation between a mother and her offspring [13,14]; (2) somatic mutations leading to variation between and within tissues such as buccal cells, muscle tissue, and hairs [3,4,15]; and (3) a genetic bottleneck in each hair follicle causing variation between hairs and other tissues, among and within hairs [5,7,9,16].…”

Section: Introductionmentioning

confidence: 99%

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Length heteroplasmy of the polyC-polyT-polyC stretch in the dog mtDNA control region

2014

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Previously, the mitochondrial control region of 214 Belgian dogs was sequenced. Analysis of this data indicated length heteroplasmy of the polyT stretch in the polyC-polyT-polyC stretch from positions 16661 to 16674. Nine polyC-polyT-polyC haplotype combinations were observed, consisting of seven major haplotypes (highest signal intensity) combined with minor haplotypes (lower signal intensity) one T shorter than the major haplotype in all but three dogs. The longer the polyT stretch, the smaller was the difference in signal intensity between the major and minor haplotype peaks. Additional sequencing, cloning, and PCR trap experiments were performed to further study the intra-individual variation of this mitochondrial DNA (mtDNA) region. Cloning experiments demonstrated that the proportion of clones displaying the minor haplotypes also increased with the length of the polyT stretch. Clone amplification showed that in vitro polymerase errors might contribute to the length heteroplasmy of polyT stretches with at least 10 Ts. Although major and minor polyC-polyT-polyC haplotypes did not differ intra-individually within and between tissues in this study, interpretation of polyT stretch variation should be handled with care in forensic casework.

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“…In this case, if possible, different tissue types should be examined (Asari et al, 2008). Hypervariable areas in human mtDNA (HV1, HV2, and HV3) are hot spots in terms of both somatic and germline mutations.…”

Section: Discussionmentioning

confidence: 99%

Genetic identification with heteroplasmic variations in maternally relatedindividuals in forensic cases

Tezel¹,

Çetinkaya²,

Güzeltepe³

et al. 2016

Turk J Biol

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Mitochondrial DNA (mtDNA), inherited from the mother, is used in a large variety of areas. In order to evaluate the connection between an incident and the victim or suspect in the analysis of criminal cases, DNA was obtained from buccal swabs sampled from 21 volunteers related through the mother's generation. Using Seqscape (v2.5.5) in an ABI 3100x1 capillary electrophoresis system, mtDNA sequence analyses were performed and compared to the revised Cambridge Reference Sequence. Individual mtDNA variations were detected. In three individuals, point heteroplasmy was observed. The results were evaluated according to the mtDNA typing guidelines established by the International Society for Forensic Genetics DNA Commission. This study can play an important role as a guide in cases of genomic DNA degradation or DNA absence, such as in disaster victim identification, where the genetic identification of an individual is necessary.

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Differences in tissue distribution of HV2 length heteroplasmy in mitochondrial DNA between mothers and children

Cited by 12 publications

References 24 publications

Analysis of mitochondrial length heteroplasmy in monozygous and non-monozygous siblings

Analysis of mitochondrial length heteroplasmy in monozygous and non-monozygous siblings

Length heteroplasmy of the polyC-polyT-polyC stretch in the dog mtDNA control region

Genetic identification with heteroplasmic variations in maternally relatedindividuals in forensic cases

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