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Tracing genetic history of modern humans using X-chromosome lineages

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Abstract

Genetic variability of the compound interrupted microsatellite DXS1238, in intron 44 of the dystrophin gene, provides evidence for a complex structure of the ancestral population that led to the emergence of modern humans. We sequenced DXS1238 in 600 X-chromosomes from all over the world. Forty four percent of African-specific chromosomes belong to the ancestral lineage that did not participate in the out-of-Africa expansion and subsequent colonization of other continents. Based on the coalescence analysis these lineages separated from those that contributed to the out-of-Africa expansion 366 ± 136 thousands years ago (Kya). Independently, the analysis of the variance in the repeat length and of the decay of the ancestral alleles of the two DXS1238 repeats, GT and GA, dates this separation at more than 200 Kya. This suggests a complex demographic history and genetic structure of the African melting pot that led to the emergence of modern humans and their out-of-Africa migration. The subsequent subdivisions of human populations among different continents appear to be preceded by even more structured population history within Africa itself, which resulted from a restricted gene flow between lineages allowing for genetic differences to accumulate. If the transition to modern humans occurred during that time, it necessarily follows that genes associated with this transformation spread between subpopulations via gene flow. Otherwise, in spite of subsequent anatomical variation, Homo sapiens as a species could have emerged in Africa already between 300 and 200 Kya, i.e. before the mitochondrial DNA and well before the Y-chromosome most recent common ancestors.

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Acknowledgments

We are indebted to all individuals who provided samples for the analysis and to different colleagues who generously shared their DNA collections. Tina Wambach and Alan Lovell participated in the early stage of this project. This work was supported by grant from the Canadian Institutes of Health Research (MOP-67150 to DL).

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Authors and Affiliations

  1. Centre de Recherche, Hôpital Sainte-Justine, CHU Mère Enfant, 3175 Côte Sainte-Catherine, Montreal, QC, Canada, H3T 1C5

    Vania Yotova, Jean-François Lefebvre & Damian Labuda

  2. Genetic Information Research Institute, Mountain View, CA, USA

    Oleksiy Kohany & Jerzy Jurka

  3. Prince Albert Parkland Health Region, Victoria Hospital, Prince Albert, SK, Canada

    Roman Michalski

  4. Dipartimento di Scienze di Sanita’ Pubblica Universita’ “La Sapienza”, Rome, Italy

    David Modiano

  5. Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria

    Gerd Utermann

  6. Center for Human Genetics Research, Vanderbilt University, Nashville, TN, USA

    Scott M. Williams

  7. Département de Pédiatrie, Université de Montréal, Montreal, QC, Canada

    Damian Labuda

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  1. Vania Yotova
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Correspondence to Damian Labuda.

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Yotova, V., Lefebvre, JF., Kohany, O. et al. Tracing genetic history of modern humans using X-chromosome lineages. Hum Genet 122, 431–443 (2007). https://doi.org/10.1007/s00439-007-0413-4

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