Completed Genetics & Molecular Biology Pregnancy, Children & Inherited Conditions

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

In plain English

AI plain-English summary

A single drop of blood from a man or a male great ape now contains enough DNA to trace how social rules, like who marries whom, have shaped human genetic diversity over thousands of years. This project addresses a fundamental gap: we know surprisingly little about how cultural behaviours—such as patrilocality (women moving to their husband’s village) or polygyny—leave measurable marks on the Y chromosome and X chromosome, compared with the rest of the genome. By sequencing roughly 4 million DNA bases from each of eight great apes and twenty humans, then analysing larger population samples from Europe and the British Isles, the researchers will directly compare male-inherited (Y), female-inherited (X), and autosomal DNA. This allows them to separate the effects of natural selection from the effects of marriage rules, migration, and major demographic events like the Neolithic spread of farming. The work is fundamental science. It will not produce a diagnostic test or a drug. But understanding how social organisation sculpts genetic variation is essential for interpreting human evolutionary history and for correctly modelling population genetics in medical studies. Similar curiosity-driven work on sex chromosomes has already revealed how gene conversion between X and Y can cause male infertility—a reminder that mapping these ancient processes can, over time, illuminate modern reproductive health.

View original technical description
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. Key goals: 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 n ovel 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. Key goals: 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 diff usion 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.

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Researchers

Mark Jobling (EPMC Awardee)

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Original classification

Senior Research Fellowship Basic Renewal

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