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mtDNA tandem repeats in domestic dogs and wolves: Mutation mechanism studied by analysis of the sequence of imperfect repeats
KTH, Superseded Departments, Biotechnology.ORCID iD: 0000-0002-1495-8338
KTH, Superseded Departments, Numerical Analysis and Computer Science, NADA.
KTH, Superseded Departments, Biotechnology.
2000 (English)In: Molecular biology and evolution, ISSN 0737-4038, E-ISSN 1537-1719, Vol. 17, no 4, 474-488 p.Article in journal (Refereed) Published
Abstract [en]

The mitochondrial (mt) DNA control region (CR) of dogs and wolves contains an array of imperfect 10 bp tandem repeats. This region was studied for 14 domestic dogs representing the four major phylogenetic groups of nonrepetitive CR and for 5 wolves. Three repeat types were found among these individuals, distributed so that different sequences of the repeat types were formed in different molecules. This enabled a detailed study of the arrays and of the mutation events that they undergo. Extensive heteroplasmy was observed in all individuals; 85 different array types were found in one individual, and the total number of types was estimated at 384. Among unrelated individuals, no identical molecules were found, indicating a high rate of evolution of the region. By performing a pedigree analysis, array types which had been inherited from mother to offspring and array types which were the result of somatic mutations, respectively, could be identified, showing that about 20% of the molecules within an individual had somatic mutations. By direct pairwise comparison of the mutated and the original array types, the physiognomy of the inserted or deleted elements (indels) and the approximate positions of the mutations could be determined. All mutations could be explained by replication slippage or point mutations. The majority of the indels were 1-5 repeats long, but deletions of up to 17 repeats were found. Mutations were found in all parts of the arrays, but at a higher frequency in the 5' end. Furthermore, the inherited array types within the mother-offspring pair were aligned and compared so that germ line mutations could be studied. The pattern of the germ line mutations was approximately the same as that of the somatic mutations.

Place, publisher, year, edition, pages
2000. Vol. 17, no 4, 474-488 p.
Keyword [en]
National Category
Biochemistry and Molecular Biology Biochemistry and Molecular Biology Developmental Biology
URN: urn:nbn:se:kth:diva-13922ISI: 000086337700002OAI: diva2:328284
QC 20100702Available from: 2010-07-02 Created: 2010-07-02 Last updated: 2010-07-02Bibliographically approved
In thesis
1. Mitochondrial DNA: analysis of the control region in forensic and population genetic studies
Open this publication in new window or tab >>Mitochondrial DNA: analysis of the control region in forensic and population genetic studies
1999 (English)Doctoral thesis, comprehensive summary (Other scientific)
Place, publisher, year, edition, pages
Stockholm: KTH, 1999. 49 p.
mitochondrial DNA, control region, tandem repeats, D-loop, homoplasmy, hair, forensic, microsatellites, evolution, DNA sequencing, PCR, domestic dog, wolf
National Category
Industrial Biotechnology
urn:nbn:se:kth:diva-2824 (URN)91-7170-408-6 (ISBN)
Public defence
1999-06-11, 00:00
QC 20100702Available from: 2000-01-01 Created: 2000-01-01 Last updated: 2010-07-02Bibliographically approved

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Savolainen, PeterArvestad, LarsLundeberg, Joakim
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