» Articles » PMID: 14593484

Mitochondrial DNA Control Region Diversity in Hairs and Body Fluids of Monozygotic Triplets

Overview
Journal Int J Legal Med
Specialty Forensic Sciences
Date 2003 Nov 1
PMID 14593484
Citations 12
Authors
Affiliations
Soon will be listed here.
Abstract

Length heteroplasmy of the homopolymeric cytosine stretch in the hypervariable region II of the mitochondrial D-loop was investigated in blood, buccal cells and hair shafts of monozygotic triplets. The proportions of length heteroplasmy were determined by cloning and sequencing of multiple independent clones. Blood and buccal cells showed an accumulation of molecules with one and two insertions of cytosine residues in relation to the Cambridge Reference Sequence (CRS). The results did not show statistically significant differences between blood and buccal cells of one and the same individual and also not between the three monozygotic brothers. In the hair samples a loss of cytosine residues was established in all three monozygotic individuals compared to blood and buccal cells, suggesting that this must be a regular process. Furthermore, the hair shaft samples showed significant differences between the frequencies of 7, 8 or 9 Cs in the poly C region comparing the three individuals (p<0.008) and in addition there were highly significant differences (p<0.0001) when comparing the results for six different hairs of each individual separately. From these results it can be assumed that besides a common genetic bottleneck during embryonic development, a post-embryonic bottleneck seems to exist in each hair follicle.

Citing Articles

Multiplexed Microsphere Suspension-Array Assay for Urine Mitochondrial DNA Typing by C-Stretch Length in Hypervariable Regions.

Aoki K, Tanaka H, Kawahara T J Clin Med Res. 2018; 10(7):552-561.

PMID: 29904439 PMC: 5997413. DOI: 10.14740/jocmr3302w.


MtDNA As a Cancer Marker: A Finally Closed Chapter?.

Kirches E Curr Genomics. 2017; 18(3):255-267.

PMID: 28659721 PMC: 5476953. DOI: 10.2174/1389202918666170105093635.


Length heterogeneity at conserved sequence block 2 in human mitochondrial DNA acts as a rheostat for RNA polymerase POLRMT activity.

Tan B, Wellesley F, Savery N, Szczelkun M Nucleic Acids Res. 2016; 44(16):7817-29.

PMID: 27436287 PMC: 5027508. DOI: 10.1093/nar/gkw648.


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

Verscheure S, Backeljau T, Desmyter S Int J Legal Med. 2014; 129(5):927-35.

PMID: 25394743 DOI: 10.1007/s00414-014-1106-x.


Inspecting close maternal relatedness: Towards better mtDNA population samples in forensic databases.

Bodner M, Irwin J, Coble M, Parson W Forensic Sci Int Genet. 2010; 5(2):138-41.

PMID: 21067986 PMC: 3135241. DOI: 10.1016/j.fsigen.2010.10.001.


References
1.
Anderson S, Bankier A, Barrell B, de Bruijn M, Coulson A, Drouin J . Sequence and organization of the human mitochondrial genome. Nature. 1981; 290(5806):457-65. DOI: 10.1038/290457a0. View

2.
Bendall K, Macaulay V, Baker J, Sykes B . Heteroplasmic point mutations in the human mtDNA control region. Am J Hum Genet. 1996; 59(6):1276-87. PMC: 1914856. View

3.
Pfeiffer H, Brinkmann B, Huhne J, Rolf B, MORRIS A, Steighner R . Expanding the forensic German mitochondrial DNA control region database: genetic diversity as a function of sample size and microgeography. Int J Legal Med. 1999; 112(5):291-8. DOI: 10.1007/s004140050252. View

4.
Hauswirth W, Van de Walle M, Laipis P, Olivo P . Heterogeneous mitochondrial DNA D-loop sequences in bovine tissue. Cell. 1984; 37(3):1001-7. DOI: 10.1016/0092-8674(84)90434-3. View

5.
Bendall K, Sykes B . Length heteroplasmy in the first hypervariable segment of the human mtDNA control region. Am J Hum Genet. 1995; 57(2):248-56. PMC: 1801530. View