Sex, genomes, history: molecular, evolutionary and cultural effects on human genetic diversity

This new Wellcome-funded Senior Fellowship project (2009-2014) will build upon progress made in the previous two Fellowship terms (including our previous project 'Pattern and process in human genetic diversity: from genomes to populations'). It will address two major questions:

  • How has residence on the sex chromosomes affected the long- and short-term evolution of genic and non-genic sequences?
  • How do the molecular evolutionary forces acting on these sequences interact with general and sex-specific population processes, and how can knowledge of molecular and population-level influences illuminate the histories of populations themselves?

    To do this, we will exploit the recent quantum leap in DNA sequencing and genotyping technology to provide a relatively unbiased and large-scale picture of diversity.

    Specifically, we will use new sequence-capture technology and next-generation sequencing methods to analyse targeted segments of the X and Y chromosomes, and also a set of autosomal sequences, totalling ~4Mb in each of eight male great apes and ~20 humans. Using these data we will infer signals of functional constraints and selection on gametologous (XY-homologous) and Y-specific genes, identify and understand the history of X-Y and Y-Y gene conversion events and conversion biases, and provide novel markers and variants to be analysed in population samples.

    In larger samples from specific human populations we will use custom SNP/PSV (paralogous sequence variant) and microsatellite typing to analyse the diversity of the sex chromosomes and autosomes. Using population data we will illuminate the effects of social organisation and kinship rules on genetic structure; the roles of males and females in major demographic events, in particular the effects of Neolithic demic diffusion in Europe; and the demographic and sex-specific influence of cultural transitions in the British Isles and the Iberian peninsula. We will further understand gene conversion processes and the selective forces that act upon specific variants within and around gametologous and Y-specific genes.

    This project starts on 1st August 2009, and will be fully underway once four positions (three post-docs and one technician) have been filled.


    This project is funded by the Wellcome Trust.
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    Last updated: 3rd August, 2009
    Mark Jobling
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