Q5(d) · UPSC Civil Services Mains 2025 · Anthropology GS 1 · 10 marks · 2 min read

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Mitochondrial DNA and human evolution.

Topic: The biological basis of Life. Syllabus: 1.7 The biological basis of Life: The Cell, DNA structure and replication, Protein Synthesis, Gene, Mutation, Chromosomes, and Cell Division. Same official PYQ from year-wise 2025 and The biological basis of Life.

Revision summary

mtDNA is inherited from the mother and does not recombine like nuclear DNA. Cann, Stoneking and Wilson used it to place the common maternal ancestor of living humans in Africa. Mitochondrial Eve is a node in a tree, not the only woman of her generation. Haplogroups map later dispersals. They are not races. Neanderthal mtDNA and nuclear admixture show that one locus is not the whole story. Join mtDNA to Y-chromosome and autosomal evidence.

Model answer

Introduction

Mitochondrial DNA is a small circular genome inside mitochondria. It is inherited almost only from the mother and does not recombine in the way nuclear chromosomes do. Those two facts made it an early clock and tree for human evolution.

Body

Why mtDNA is useful

Because it comes down the maternal line, a tree of mtDNA types is a tree of mothers. Mutation accumulates fast enough, relative to many nuclear regions, to separate human groups on a recent timescale. Allan Wilson’s laboratory used this logic. In 1987 Rebecca Cann, Mark Stoneking and Wilson published the famous mitochondrial work that placed the common maternal ancestor of living humans in Africa.

Popular writing called her “mitochondrial Eve”. That name misleads if it sounds like the only woman of her time. She is the most recent woman from whom all living mtDNA lines descend. Many other women lived then; their mtDNA lines later died out.

What it showed about evolution

  • Recent African origin: Living human mtDNA diversity is greatest in Africa, and non-African lineages sit inside African variation. This supported an Out-of-Africa model against a simple multiregional story of separate ancient origins.
  • Haplogroups: Later work labelled maternal haplogroups that map dispersal into Eurasia, Australia and the Americas. They are tools for migration history, not races.
  • Archaic cousins: Neanderthal and Denisovan mtDNA, when recovered, did not match living human mtDNA as a simple continuation. Nuclear DNA later showed some interbreeding. One locus is not the whole species tree.

Svante Pääbo’s ancient-DNA programme sits beside this note even though much of it is nuclear. It is the next chapter, not a substitute for the 1987 argument.

Limits

mtDNA is one locus. Selection, population size and drift can warp the tree. Time estimates depend on mutation-rate assumptions. Paternal leakage is rare. The bigger caution is that a maternal tree is not the full history of peoples. Y-chromosome and autosomal DNA must join it.

Commercial “maternal ancestry” tests report a haplogroup, not a caste or a civilisation.

Flow diagram

flowchart TD
  MT[mtDNA] --> M[Maternal / no recombination]
  MT --> A[African diversity deepest]
  A --> O[Out of Africa]
  MT --> L[One locus only]

Conclusion

Mitochondrial DNA gave anthropology a maternal clock and a strong African-origin argument. Cann, Stoneking and Wilson established the maternal African-origin case. Eve is a node in a tree, not a lone first woman, and mtDNA is one line beside nuclear genomes.

Quick related

Students also ask

  • Foetal origin of adult diseases and contribution of David Barker.

    Next question in the 2025 paper (Q5). View answer →

  • Did mtDNA prove that no mixing occurred outside Africa?

    No. It supported a recent African origin of living mtDNA lines. Nuclear ancient DNA later showed limited mixing with Neanderthals and Denisovans.

  • Is mtDNA enough for a full peopling history?

    No. It is one maternal locus. Autosomal and Y-chromosome data are needed for a fuller picture.

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