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Related Concept Videos

Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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Published on: February 10, 2023

A highly unstable recent mutation in human mtDNA.

Ana T Duggan1, Mark Stoneking

  • 1Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.

American Journal of Human Genetics
|January 15, 2013
PubMed
Summary
This summary is machine-generated.

The "Polynesian motif" (a specific human mtDNA mutation) shows frequent back-mutations, challenging its use as a sole marker for Austronesian expansion genetics in Oceania. This suggests limitations in current haplogroup analysis methods.

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Area of Science:

  • Human population genetics
  • Mitochondrial DNA (mtDNA) evolution
  • Ancient DNA analysis

Background:

  • The A-to-G transition at position 16247 in human mtDNA defines haplogroup B4a1a1a, known as the "Polynesian motif."
  • This motif is a key genetic marker for Austronesian expansion in Oceania, nearly fixed in Remote Oceania.
  • The 16247G allele originated approximately 7,000 years ago.

Purpose of the Study:

  • To investigate the evolutionary stability of the 16247G allele (Polynesian motif) in the Solomon Islands.
  • To identify instances of back-mutation from 16247G to 16247A in human mtDNA.
  • To assess the accuracy of automated haplogroup-calling scripts in the presence of recurrent back-mutations.

Main Methods:

  • Analysis of 536 complete human mtDNA genome sequences from the Solomon Islands.
  • Examination of haplogroup B4a1a1 and its subhaplogroups.
  • Investigation of heteroplasmy levels at position 16247.

Main Results:

  • Discovery of multiple independent back-mutations from 16247G to 16247A.
  • Observation of elevated heteroplasmy at position 16247, indicating ongoing somatic mutations or heteroplasmy transmission.
  • Prediction that the 16247G allele may create an unstable stem-loop structure, promoting back-mutations.

Conclusions:

  • The Polynesian motif (16247G) is not as evolutionarily stable as previously assumed, with frequent back-mutations observed.
  • Automated haplogroup-calling scripts may produce inaccurate results for mtDNA lineages with recurrent back-mutations.
  • Further analyses beyond simple haplogroup calls are necessary for accurate population genetic studies, especially for mtDNA lineages with complex mutation patterns.